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
RANBP2	5903	broad.mit.edu	37	2	109380688	109380688	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:109380688C>T	ENST00000283195.6	+	20	3819	c.3693C>T	c.(3691-3693)cgC>cgT	p.R1231R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1231	RanBD1 1.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTAAAATTCGCCTTCTAATGA	0.378000													72	291					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210198	100210198	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:100210198C>T	ENST00000317233.4	-	14	2160	c.1925G>A	c.(1924-1926)cGc>cAc	p.R642H	AFF3_ENST00000409236.1_Missense_Mutation_p.R642H|AFF3_ENST00000409579.1_Missense_Mutation_p.R667H|AFF3_ENST00000356421.2_Missense_Mutation_p.R667H	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	642					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CACGGAGGAGCGCAGCTCCTT	0.657000													111	142					0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188473	70188473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:70188473C>T	ENST00000320256.4	-	1	924	c.348G>A	c.(346-348)tgG>tgA	p.W116*		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	116					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGCTGTGCAGCCAGAGGTTTG	0.582000													94	124					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42059147	42059147	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:42059147C>G	ENST00000219905.7	+	24	9048	c.8867C>G	c.(8866-8868)gCa>gGa	p.A2956G	MGA_ENST00000545763.1_Missense_Mutation_p.A2747G|MGA_ENST00000389936.4_Missense_Mutation_p.A2917G|MGA_ENST00000566586.1_Missense_Mutation_p.A2747G|MGA_ENST00000570161.1_Missense_Mutation_p.A2956G	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2917						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGCCTCCCTGCAGAGCCCGAA	0.483000													13	130					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78056626	78056626	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:78056626C>T	ENST00000299642.4	+	1	215	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Missense_Mutation_p.R35C	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	35					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GCACAGCAAACGTCGAGTGAG	0.473000													32	95					0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85109479	85109479	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:85109479C>T	ENST00000566428.1	+	5	1164	c.533C>T	c.(532-534)gCc>gTc	p.A178V	KIAA0513_ENST00000567328.1_Missense_Mutation_p.A178V|KIAA0513_ENST00000538274.1_Missense_Mutation_p.A178V|KIAA0513_ENST00000258180.3_Missense_Mutation_p.A178V			O60268	K0513_HUMAN	KIAA0513	178						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TTTGGGCCTGCCAAGAACCTC	0.517000													7	173					0	0	1	0	0
UGT1A6	0	broad.mit.edu	37	2	234681097	234681097	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:234681097C>T	ENST00000305139.6	+	5	1630	c.1491C>T	c.(1489-1491)gtC>gtT	p.V497V	UGT1A3_ENST00000482026.1_Silent_p.V499V|UGT1A4_ENST00000373409.3_Silent_p.V499V|UGT1A6_ENST00000373424.1_Silent_p.V230V|UGT1A7_ENST00000373426.3_Silent_p.V495V|UGT1A8_ENST00000373450.4_Silent_p.V495V|UGT1A9_ENST00000354728.4_Silent_p.V495V|UGT1A5_ENST00000373414.3_Silent_p.V499V|UGT1A10_ENST00000344644.5_Silent_p.V495V|UGT1A1_ENST00000305208.5_Silent_p.V498V	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TCTTGGCCGTCGTGCTGACAG	0.542000													203	244					0	0	1	0	0
FARS2	10667	broad.mit.edu	37	6	5771561	5771561	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:5771561C>A	ENST00000324331.6	+	7	1591	c.1255C>A	c.(1255-1257)Cgc>Agc	p.R419S	FARS2_ENST00000274680.4_Missense_Mutation_p.R419S			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	419	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CATCACGTACCGCCACATGGA	0.592000													108	113					1.01947e-62	1.1705e-62	1	1	0
NLRP13	126204	broad.mit.edu	37	19	56424179	56424179	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:56424179C>A	ENST00000588751.1	-	5	1028	c.1004G>T	c.(1003-1005)tGg>tTg	p.W335L	NLRP13_ENST00000342929.3_Missense_Mutation_p.W335L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	335	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTCCTGGTACCAGTCTGTACA	0.463000													170	319					2.92728e-61	3.34033e-61	1	1	0
TRDN	10345	broad.mit.edu	37	6	123824955	123824955	+	Silent	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:123824955A>G	ENST00000334268.4	-	8	1019	c.702T>C	c.(700-702)gcT>gcC	p.A234A	TRDN_ENST00000398178.3_Silent_p.A234A|TRDN_ENST00000546248.1_Silent_p.A234A			Q13061	TRDN_HUMAN	triadin	234					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTACTTTTGCAGCTGTTTGCT	0.368000													4	91					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44220861	44220861	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:44220861G>A	ENST00000371554.1	+	11	2025	c.1811G>A	c.(1810-1812)cGg>cAg	p.R604Q	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R604Q|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R604Q			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	604					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATATGGAGCGGATCATGAAA	0.527000													9	447					0	0	1	0	0
SNX7	51375	broad.mit.edu	37	1	99167440	99167440	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:99167440A>G	ENST00000370189.5	+	8	1278	c.914A>G	c.(913-915)aAa>aGa	p.K305R	SNX7_ENST00000306121.3_Missense_Mutation_p.K369R|SNX7_ENST00000529992.1_Missense_Mutation_p.K314R			Q9UNH6	SNX7_HUMAN	sorting nexin 7	305					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TTGACCTATAAAAAGGCAGAT	0.308000													110	487					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													8	283					2.23348e-06	2.32083e-06	1	1	0
RTN1	6252	broad.mit.edu	37	14	60212959	60212959	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:60212959A>T	ENST00000267484.5	-	2	817	c.482T>A	c.(481-483)tTa>tAa	p.L161*		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	161					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGAACTAAATAAGCCACGAGA	0.517000													37	439					0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127677374	127677374	+	Missense_Mutation	SNP	A	A	G	rs2280173	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:127677374A>G	ENST00000449042.2	+	4	601	c.428A>G	c.(427-429)aAt>aGt	p.N143S	FANK1_ENST00000368693.1_Intron|FANK1_ENST00000368689.1_Intron|FANK1_ENST00000368695.1_Intron			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	0						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AAACACTGCAATAATATTTGC	0.378000													4	88					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48452387	48452387	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:48452387A>C	ENST00000358536.4	-	29	5575	c.5306T>G	c.(5305-5307)gTg>gGg	p.V1769G	PLXNB1_ENST00000358459.4_Missense_Mutation_p.V1586G|PLXNB1_ENST00000448774.2_Missense_Mutation_p.V380G|PLXNB1_ENST00000296440.6_Missense_Mutation_p.V1769G|PLXNB1_ENST00000456774.1_Missense_Mutation_p.V1586G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1769					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAGGACCTTCACGGGCACGCC	0.597000													16	104					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35630161	35630161	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr13:35630161C>T	ENST00000540320.1	+	7	1521	c.987C>T	c.(985-987)agC>agT	p.S329S	NBEA_ENST00000400445.3_Silent_p.S329S|NBEA_ENST00000379939.2_Silent_p.S329S|NBEA_ENST00000310336.4_Silent_p.S329S			Q8NFP9	NBEA_HUMAN	neurobeachin	329						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACATGATCAGCATTGTCCACA	0.318000													7	225					0	0	1	0	0
CCR10	2826	broad.mit.edu	37	17	40831612	40831612	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:40831612A>C	ENST00000591765.1	-	2	1767	c.382T>G	c.(382-384)Tca>Gca	p.S128A	CCR10_ENST00000332438.4_Missense_Mutation_p.S350A			P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	350						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTGGGAGCTGAGCAGGAAGAA	0.697000													22	115					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75982360	75982360	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:75982360G>A	ENST00000308508.5	-	3	1138	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	349	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGCAGGGAGGCATTGGTGGC	0.667000													8	107					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102304770	102304770	+	RNA	SNP	C	C	T	rs62026988	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:102304770C>T	ENST00000561463.1	+	0	12816																											GGCACAGCGGCGTGACGAGAC	0.592000													4	72					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	167760152	167760152	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:167760152C>G	ENST00000409195.1	+	2	249	c.160C>G	c.(160-162)Cct>Gct	p.P54A	XIRP2_ENST00000420519.1_Missense_Mutation_p.P54A|XIRP2_ENST00000409043.1_Missense_Mutation_p.P54A|XIRP2_ENST00000295237.9_Missense_Mutation_p.P54A|XIRP2_ENST00000409728.1_Missense_Mutation_p.P54A|XIRP2_ENST00000409756.2_Missense_Mutation_p.P54A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						AGTATCAGCACCTCAATCTTT	0.483000													116	104					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35050548	35050548	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:35050548C>T	ENST00000360359.3	+	18	2928	c.2790C>T	c.(2788-2790)caC>caT	p.H930H	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	930						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTTGGCAACACCAGCCAGAGA	0.632000													11	195					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					10	313					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124825185	124825185	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:124825185G>A	ENST00000356219.3	-	36	5477	c.5322C>T	c.(5320-5322)ccC>ccT	p.P1774P	NCOR2_ENST00000405201.1_Silent_p.P1767P|NCOR2_ENST00000404621.1_Silent_p.P1757P|NCOR2_ENST00000404121.2_Silent_p.P1328P|NCOR2_ENST00000397355.1_Silent_p.P1758P|NCOR2_ENST00000429285.2_Silent_p.P1757P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1775					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCTGCTGAAGGGCTGGGGCG	0.716000													11	33					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56393693	56393693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:56393693G>A	ENST00000370754.5	-	67	17532	c.17533C>T	c.(17533-17535)Caa>Taa	p.Q5845*	DST_ENST00000361203.3_Nonsense_Mutation_p.Q5556*|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Nonsense_Mutation_p.Q3253*|DST_ENST00000340834.4_5'UTR|DST_ENST00000421834.2_Nonsense_Mutation_p.Q3579*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q5341*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q3470*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q5667*			Q03001	DYST_HUMAN	dystonin	5665					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTACATTTTGTTTCCTGAGT	0.338000													9	22					0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124242536	124242536	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:124242536G>C	ENST00000330342.3	+	20	2776	c.2528G>C	c.(2527-2529)aGt>aCt	p.S843T	ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.S125T|ATP6V0A2_ENST00000543687.1_3'UTR	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	843					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TTCTCATTCAGTCTACTTTCA	0.348000													12	148					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108124539	108124539	+	Splice_Site	SNP	A	A	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:108124539A>C	ENST00000278616.4	+	13	2283		c.e13-1		ATM_ENST00000452508.2_Splice_Site	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated						cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACTTTCTTGAAGTGAACACCA	0.294000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			99	65					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25467064	25467064	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:25467064C>T	ENST00000264709.3	-	15	2148	c.1811G>A	c.(1810-1812)cGg>cAg	p.R604Q	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R604Q|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R381Q|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R415Q	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	604	ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCTGGAGCCGGGAGGGCCA	0.632000			"""Mis, F, N, S"""		AML								39	154					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53209243	53209243	+	Silent	SNP	T	T	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:53209243T>C	ENST00000543227.1	-	6	1339	c.1065A>G	c.(1063-1065)caA>caG	p.Q355Q	ZNF611_ENST00000453741.2_Silent_p.Q286Q|ZNF611_ENST00000602162.1_Silent_p.Q286Q|ZNF611_ENST00000319783.1_Silent_p.Q355Q|ZNF611_ENST00000595798.1_Silent_p.Q286Q|ZNF611_ENST00000540744.1_Silent_p.Q355Q	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AAAGTTGTGATTGTTGATTAA	0.343000													197	337					0	0	1	0	0
MST1L	0	broad.mit.edu	37	1	17083650	17083650	+	RNA	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:17083650A>G	ENST00000455405.2	-	0	938																											ttaaatctcaaccttgagtac	0.388000													7	230					0	0	1	0	0
ABHD1	84696	broad.mit.edu	37	2	27351452	27351452	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:27351452C>T	ENST00000316470.4	+	2	372	c.258C>T	c.(256-258)ccC>ccT	p.P86P		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	86						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTCTCAGCCCCTAGTCCTTT	0.473000													176	240					0	0	1	0	0
FBXL16	146330	broad.mit.edu	37	16	744694	744694	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:744694G>T	ENST00000397621.1	-	5	1562	c.1231C>A	c.(1231-1233)Caa>Aaa	p.Q411K	FBXL16_ENST00000324361.5_Missense_Mutation_p.Q411K|FBXL16_ENST00000562563.1_Missense_Mutation_p.Q199K|FBXL16_ENST00000562585.1_5'UTR	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	411										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				CCGAAGTCTTGCACCTGTCGG	0.657000													4	51					0.00909568	0.00914485	1	1	0
DNAJB7	150353	broad.mit.edu	37	22	41257516	41257516	+	Silent	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:41257516A>G	ENST00000307221.4	-	1	614	c.483T>C	c.(481-483)ggT>ggC	p.G161G	XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	161					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						GCCCCAATGAACCCTGTGATG	0.378000													115	555					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90160926	90160926	+	RNA	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:90160926G>A	ENST00000564451.1	+	0	877				TUBB8P7_ENST00000567960.1_RNA																							ATGCCCTCCCGCCCCACGCAG	0.726000													23	65					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													6	222					0	0	1	0	0
TMEM260	54916	broad.mit.edu	37	14	57085396	57085396	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:57085396C>T	ENST00000261556.6	+	10	1263	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	TMEM260_ENST00000538838.1_Nonsense_Mutation_p.R381*|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3			transmembrane protein 260																		TGAGACTAACCGAGTGCTGAA	0.443000													71	304					0	0	1	0	0
B3GNT8	374907	broad.mit.edu	37	19	41931793	41931793	+	Silent	SNP	G	G	A	rs147647792		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:41931793G>A	ENST00000321702.2	-	3	1344	c.891C>T	c.(889-891)ttC>ttT	p.F297F	CTC-435M10.6_ENST00000598887.1_RNA	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	297					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						AGCCACCTTCGAAGAAGGACT	0.667000													7	232					0	0	1	0	0
THAP2	83591	broad.mit.edu	37	12	72068117	72068117	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:72068117G>A	ENST00000308086.2	+	2	1707	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.R45Q	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	69						nucleolus	DNA binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						GGACAAACTCGACGACTTAAA	0.373000													20	776					0	0	1	0	0
ANXA11	311	broad.mit.edu	37	10	81928927	81928927	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:81928927T>C	ENST00000438331.1	-	6	841	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	ANXA11_ENST00000535999.1_Missense_Mutation_p.Y120C|ANXA11_ENST00000372231.3_Missense_Mutation_p.Y120C|ANXA11_ENST00000360615.4_Missense_Mutation_p.Y120C|ANXA11_ENST00000537102.1_Missense_Mutation_p.Y87C|ANXA11_ENST00000422982.3_Missense_Mutation_p.Y120C|ANXA11_ENST00000265447.4_Missense_Mutation_p.Y120C	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	120					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GTATGGCGGATATGAGGGCAT	0.692000													22	42					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85571180	85571180	+	Missense_Mutation	SNP	G	G	A	rs149307146	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:85571180G>A	ENST00000295802.4	-	9	1587	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000457495.2_Missense_Mutation_p.S431F|RETSAT_ENST00000263854.6_Intron	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	492					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.S492F(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCCACAAAGGAGTTTTTGAA	0.537000													9	414					0	0	1	0	0
COQ6	51004	broad.mit.edu	37	14	74424980	74424980	+	Splice_Site	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:74424980G>T	ENST00000334571.2	+	5	652	c.612_splice	c.e5+1	p.L204_splice	COQ6_ENST00000238709.4_Splice_Site_p.L129_splice|ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000394026.4_Splice_Site_p.L179_splice	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	204					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CCAAATTGTTGGTAGTTGAAG	0.418000													19	279					1.56452e-12	1.66287e-12	1	1	0
TCERG1L	256536	broad.mit.edu	37	10	133106511	133106511	+	Silent	SNP	C	C	T	rs144369307	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:133106511C>T	ENST00000368642.4	-	3	718	c.633G>A	c.(631-633)ccG>ccA	p.P211P		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	211										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CCGTGGGGAGCGGCCTGGAGG	0.493000													9	99					0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23352422	23352422	+	Missense_Mutation	SNP	G	G	A	rs78711689		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:23352422G>A	ENST00000258729.3	-	14	1929	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	525	KH 4.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.R525C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GTCTGGTCACGAGGGACAACA	0.388000													5	210					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:146059041A>G	ENST00000454497.2	-	21	2828	c.2691T>C	c.(2689-2691)caT>caC	p.H897H	OTUD4_ENST00000447906.2_Silent_p.H962H|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	961							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478000													17	846					0	0	1	0	0
SEC62	7095	broad.mit.edu	37	3	169710773	169710773	+	Silent	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:169710773A>G	ENST00000337002.4	+	8	1180	c.1122A>G	c.(1120-1122)caA>caG	p.Q374Q	SEC62_ENST00000480708.1_Silent_p.Q374Q	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	374					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TGGAACAGCAAACAGATGGGG	0.403000													9	140					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40208373	40208373	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:40208373G>A	ENST00000302541.6	+	6	929	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	MYRIP_ENST00000425621.1_Missense_Mutation_p.R196Q|MYRIP_ENST00000539167.1_Missense_Mutation_p.R9Q|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.R196Q|MYRIP_ENST00000396217.3_Missense_Mutation_p.R107Q	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	196	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding	p.R196L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GTGGCCCTACGGGTGGCTGAA	0.517000													52	247					0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41501725	41501725	+	Missense_Mutation	SNP	G	G	A	rs144824409		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:41501725G>A	ENST00000314992.5	-	5	524	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	EXD1_ENST00000458580.2_Missense_Mutation_p.R170C	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	112	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTGCCATGGCGACATACATTC	0.383000													76	53					0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109278890	109278890	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:109278890G>A	ENST00000228476.3	+	2	312	c.108G>A	c.(106-108)gcG>gcA	p.A36A	DAO_ENST00000551281.1_Silent_p.A36A	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	36					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						AGGTCTACGCGGACCGCTTCA	0.622000													95	286					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373660	126373660	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:126373660G>A	ENST00000394329.3	+	9	11502	c.11489G>A	c.(11488-11490)cGt>cAt	p.R3830H	FAT4_ENST00000335110.5_Missense_Mutation_p.R2128H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3830	EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTAAAAAGCCGTGAGAGTCTT	0.483000													48	249					0	0	1	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4048140	4048140	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:4048140G>C	ENST00000322357.4	-	3	1643	c.1365C>G	c.(1363-1365)aaC>aaG	p.N455K	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.N455K	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	455					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGCATGTGGTTCTTCAGGT	0.627000													85	203					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113166766	113166766	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:113166766C>G	ENST00000401783.2	-	39	9843	c.9507G>C	c.(9505-9507)tgG>tgC	p.W3169C	SVEP1_ENST00000297826.5_Missense_Mutation_p.W1095C|SVEP1_ENST00000374469.1_Missense_Mutation_p.W3146C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3169	Sushi 29.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTCAGGGAACCAGCGACCAT	0.418000													411	791					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													12	217					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642283	127642283	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:127642283C>A	ENST00000405109.1	+	2	846	c.379C>A	c.(379-381)Cac>Aac	p.H127N	KBTBD12_ENST00000405256.1_Missense_Mutation_p.H127N|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_5'UTR			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	127										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TATGATGGACCACATGGATGC	0.363000													31	115					1.88708e-17	2.01723e-17	1	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													8	275					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119295669	119295669	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:119295669C>T	ENST00000338891.7	-	14	3282	c.2839G>A	c.(2839-2841)Gag>Aag	p.E947K	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000521531.1_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	947										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATATTTTTCTCTCTGAGGTGG	0.333000													214	557					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14274079	14274079	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:14274079G>A	ENST00000340736.6	-	6	846	c.549C>T	c.(547-549)cgC>cgT	p.R183R	LPHN1_ENST00000591528.1_5'UTR|LPHN1_ENST00000361434.3_Silent_p.R178R|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	183	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGTGTCCGTGCGGTAGGGGA	0.652000													8	204					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110494918	110494918	+	Silent	SNP	G	G	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:110494918G>C	ENST00000260283.4	-	5	755	c.471C>G	c.(469-471)ggC>ggG	p.G157G	ARHGAP20_ENST00000527598.1_Silent_p.G121G|ARHGAP20_ENST00000524756.1_Silent_p.G134G|ARHGAP20_ENST00000357139.3_Silent_p.G131G|ARHGAP20_ENST00000528829.1_Silent_p.G121G|ARHGAP20_ENST00000533353.1_Silent_p.G131G	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	157	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CTGTGGGCCAGCCCAAAACAA	0.393000													69	64					0	0	1	0	0
FAM86JP	0	broad.mit.edu	37	3	125647396	125647396	+	RNA	SNP	T	T	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:125647396T>C	ENST00000485843.1	+	0	541					NR_024251.1																						TGTTTCCCTATGAAGAGCACT	0.502000													13	676					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171242714	171242714	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:171242714G>A	ENST00000334231.6	+	13	1333	c.1333G>A	c.(1333-1335)Gga>Aga	p.G445R	MYO3B_ENST00000409044.3_Missense_Mutation_p.G436R|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.G436R			Q8WXR4	MYO3B_HUMAN	myosin IIIB	436	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						TGTCATCAGCGGAGAGAGTGG	0.448000													87	95					0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139038807	139038807	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chrX:139038807T>A	ENST00000370540.1	-	3	357	c.334A>T	c.(334-336)Atg>Ttg	p.M112L		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	112	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GTAGATAGCATGGGTTGTGTT	0.433000													410	167					0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30681703	30681703	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:30681703A>G	ENST00000534862.1	+	12	1433	c.1070A>G	c.(1069-1071)tAc>tGc	p.Y357C	HCK_ENST00000538448.1_Missense_Mutation_p.Y356C|HCK_ENST00000520553.1_Missense_Mutation_p.Y356C|HCK_ENST00000518730.1_Missense_Mutation_p.Y355C|HCK_ENST00000375862.2_Missense_Mutation_p.Y376C|HCK_ENST00000375852.2_Missense_Mutation_p.Y377C	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	377	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGAGGAACTACATCCACCGA	0.567000													42	234					0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4793717	4793717	+	Silent	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:4793717C>A	ENST00000269856.3	+	1	1990	c.1851C>A	c.(1849-1851)gcC>gcA	p.A617A	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	617					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.A617A(4)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGAAGACGGCCTACGAGCTGC	0.607000													8	168					1	1	1	1	0
PCDHA9	0	broad.mit.edu	37	5	140230505	140230505	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr5:140230505A>G	ENST00000378122.3	+	1	3149	c.2425A>G	c.(2425-2427)Ata>Gta	p.I809V	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			atttatttatataattttttt	0.358000													13	316					0	0	1	0	0
KATNB1	10300	broad.mit.edu	37	16	57787404	57787404	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:57787404G>A	ENST00000379661.3	+	12	1542	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	384	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	p.E384K(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GGACTACAACGAGATCTTCCA	0.667000													63	196					0	0	1	0	0
HIATL1	84641	broad.mit.edu	37	9	97207438	97207438	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:97207438T>A	ENST00000375344.3	+	6	972	c.703T>A	c.(703-705)Tct>Act	p.S235T	HIATL1_ENST00000428393.2_Missense_Mutation_p.S170T	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	235					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				AGCTCAGATTTCTTGGAAACA	0.423000													62	105					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110883874	110883874	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:110883874G>T	ENST00000369784.3	+	1	2747	c.1847G>T	c.(1846-1848)cGc>cTc	p.R616L	RBM15_ENST00000487146.2_Missense_Mutation_p.R616L|RBM15_ENST00000602849.1_Missense_Mutation_p.R616L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	616	Arg-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGCCTAGATCGCAGGCGGGAT	0.612000			T	MKL1	acute megakaryocytic leukemia								36	109					4.62619e-21	5.12185e-21	1	1	0
SERPINB7	8710	broad.mit.edu	37	18	61460480	61460480	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr18:61460480T>G	ENST00000398019.2	+	4	630	c.305T>G	c.(304-306)cTt>cGt	p.L102R	SERPINB7_ENST00000540675.1_Missense_Mutation_p.L85R|SERPINB7_ENST00000336429.2_Missense_Mutation_p.L102R|SERPINB7_ENST00000546027.1_Missense_Mutation_p.L102R	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	102					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GTGAATGGGCTTTTTGCTGAA	0.368000													115	198					0	0	1	0	0
HOXC12	3228	broad.mit.edu	37	12	54348806	54348806	+	Silent	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:54348806G>T	ENST00000243103.3	+	1	189	c.93G>T	c.(91-93)gcG>gcT	p.A31A		NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	31					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						ACTTCCGCGCGTCCGGGGCGC	0.652000													7	139					0.00198382	0.00200538	1	1	0
TRMT13	54482	broad.mit.edu	37	1	100613486	100613486	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:100613486C>T	ENST00000370141.2	+	10	860	c.854C>T	c.(853-855)gCc>gTc	p.A285V		NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		ACCTATGCTGCCAGTTTTGAG	0.348000													38	186					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26580903	26580903	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:26580903G>A	ENST00000381340.3	-	49	7304	c.6888C>T	c.(6886-6888)ctC>ctT	p.L2296L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2296					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATATTGATCTGAGCATTATTG	0.383000													42	365					0	0	1	0	0
PCDHA9	0	broad.mit.edu	37	5	140230517	140230517	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr5:140230517C>G	ENST00000378122.3	+	1	3161	c.2437C>G	c.(2437-2439)Ctt>Gtt	p.L813V	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			aattttttttCTTGAAAGATA	0.353000													12	363					0	0	1	0	0
PLD3	0	broad.mit.edu	37	19	40883778	40883778	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:40883778G>A	ENST00000409587.1	+	12	1668	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	PLD3_ENST00000409419.1_Missense_Mutation_p.R424H|PLD3_ENST00000409281.1_Missense_Mutation_p.R424H|PLD3_ENST00000356508.5_Missense_Mutation_p.R424H|PLD3_ENST00000409735.4_Missense_Mutation_p.R424H			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	424	PLD phosphodiesterase 2.				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GTGACTGAACGCGCCACCTAC	0.612000													32	157					0	0	1	0	0
LINC00264	0	broad.mit.edu	37	10	26880338	26880338	+	RNA	SNP	G	G	C	rs3118888	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:26880338G>C	ENST00000412114.1	+	0	573					NR_026793.1																						GCTGAAACATGGAAGGTAAAA	0.483000													10	191					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28648987	28648987	+	Missense_Mutation	SNP	G	G	A	rs1617629		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr18:28648987G>A	ENST00000280904.6	-	15	2824	c.2381C>T	c.(2380-2382)tCg>tTg	p.S794L	DSC2_ENST00000251081.6_Missense_Mutation_p.S794L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	794					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GCAGGATTCCGAGGTCTGGTG	0.592000													7	254					0	0	1	0	0
IMP3	55272	broad.mit.edu	37	15	75932236	75932236	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:75932236G>C	ENST00000314852.2	-	2	1217	c.274C>G	c.(274-276)Cgc>Ggc	p.R92G	IMP3_ENST00000403490.1_Missense_Mutation_p.R92G			Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)	92					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						AGCGAACCGCGCGTGGGCACC	0.711000													6	103					0	0	1	0	0
DNAAF2	0	broad.mit.edu	37	14	50100984	50100984	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:50100984G>A	ENST00000298292.8	-	1	964	c.884C>T	c.(883-885)gCc>gTc	p.A295V	DNAAF2_ENST00000406043.3_Missense_Mutation_p.A295V	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	295					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						CGCCTGCTCGGCCGAGCGCAA	0.652000													37	122					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483324	32483324	+	Silent	SNP	C	C	T	rs137994407	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:32483324C>T	ENST00000359872.6	-	1	989	c.228G>A	c.(226-228)gtG>gtA	p.V76V		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	76					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCACTTCGTCCACCTTAGTGA	0.577000													16	204					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					9	315					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84797846	84797846	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:84797846C>T	ENST00000219473.7	+	10	1922	c.1809C>T	c.(1807-1809)acC>acT	p.T603T	USP10_ENST00000570191.1_Silent_p.T607T	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	603					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CTCCAATCACCGGCATTTTTG	0.488000													187	259					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	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								18	382					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290746	5290746	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:5290746C>T	ENST00000380237.1	-	4	597	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.A85T|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	85					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.A85S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAGCAAAGGCGGGCTTGAGG	0.502000													180	290					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73459982	73459982	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:73459982G>A	ENST00000556143.1	-	4	1792	c.1072C>T	c.(1072-1074)Cac>Tac	p.H358Y	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.H358Y|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.H358Y	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	358						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CCCTTGTAGTGAATGGAACTA	0.537000													131	182					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262083	39262083	+	Missense_Mutation	SNP	A	A	C	rs75392608		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:39262083A>C	ENST00000391415.1	+	1	500	c.443A>C	c.(442-444)aAc>aCc	p.N148T		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	148	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						tgccagcccaactgctgccgc	0.667000													5	92					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40704299	40704299	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:40704299C>T	ENST00000298910.7	+	31	4442	c.4384C>T	c.(4384-4386)Cgc>Tgc	p.R1462C		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1462	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGAGAAGCAACGCAAAGCCTG	0.483000													114	494					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													13	327					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099106	133099106	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:133099106C>T	ENST00000515826.1	+	3	674	c.551C>T	c.(550-552)cCg>cTg	p.P184L	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.P184L|TMEM108_ENST00000393130.3_Missense_Mutation_p.P184L			Q6UXF1	TM108_HUMAN	transmembrane protein 108	184	Pro-rich.					integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CGCCCTGTCCCGCCTGCACCT	0.647000													64	101					0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72943312	72943312	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:72943312G>A	ENST00000328801.4	+	6	1362	c.1362G>A	c.(1360-1362)tcG>tcA	p.S454S		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	454						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TGGCCTACTCGCTGCTGCTCA	0.627000													30	126					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803621	142803621	+	RNA	SNP	T	T	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:142803621T>C	ENST00000423385.1	-	0	1344																											TGGAAGAaactaatatctgtt	0.303000													8	308					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													8	274					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126165765	126165765	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:126165765C>T	ENST00000373624.2	-	20	1694	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	DENND1A_ENST00000394215.2_Missense_Mutation_p.R468H|DENND1A_ENST00000542603.1_Missense_Mutation_p.R240H|DENND1A_ENST00000373620.3_Missense_Mutation_p.R498H|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.R466H	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	498						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						ACGAGGTGGGCGCACCTAGAG	0.542000													18	109					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101052308	101052308	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:101052308G>T	ENST00000360863.6	-	13	2140	c.1946C>A	c.(1945-1947)aCc>aAc	p.T649N	RGS22_ENST00000523437.1_Missense_Mutation_p.T637N|RGS22_ENST00000523287.1_Missense_Mutation_p.T468N	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	649					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATCTGACACGGTTTTAACCTA	0.348000													127	128					3.41043e-57	3.86793e-57	1	1	0
KRT6A	3853	broad.mit.edu	37	12	52884454	52884454	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:52884454G>A	ENST00000330722.6	-	5	1044	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	326	Linker 12.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAGGTTGCGGTTGTTGTCC	0.537000													124	603					0	0	1	0	0
ZNF707	286075	broad.mit.edu	37	8	144776010	144776010	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:144776010C>T	ENST00000532205.1	+	8	1325	c.426C>T	c.(424-426)gaC>gaT	p.D142D	ZNF707_ENST00000358656.4_Silent_p.D142D|ZNF707_ENST00000454097.1_Silent_p.D142D|ZNF707_ENST00000418203.2_Silent_p.D142D|ZNF707_ENST00000532158.1_Silent_p.D142D			Q96C28	ZN707_HUMAN	zinc finger protein 707	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAAGGACAGACGCCAAGCCCA	0.647000													42	147					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118539013	118539013	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:118539013T>C	ENST00000336338.5	-	34	5098	c.5033A>G	c.(5032-5034)gAg>gGg	p.E1678G		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1678						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGCACTGGCTCTTGGAGAAC	0.428000													152	297					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154624846	154624846	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:154624846G>A	ENST00000260010.6	+	1	2195	c.787G>A	c.(787-789)Gat>Aat	p.D263N		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	263					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GAAAATCACCGATGAAAGTTT	0.318000													16	241					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		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)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								14	404					0	0	1	0	0
PGAP3	93210	broad.mit.edu	37	17	37842226	37842226	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:37842226G>A	ENST00000300658.4	-	2	320	c.228C>T	c.(226-228)acC>acT	p.T76T	PGAP3_ENST00000378011.4_Silent_p.T76T|PGAP3_ENST00000429199.2_Silent_p.T76T|PGAP3_ENST00000579146.1_Silent_p.T76T	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	76					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						AGAGCCCAACGGTGACCCACA	0.537000													26	101					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24656959	24656959	+	RNA	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:24656959G>A	ENST00000414583.2	+	0	2032					NR_003714.1																						CCTCAGGGAGGGAGTGACCTC	0.627000													4	19					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	rs11554273		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:57484420C>T	ENST00000371100.4	+	8	3082	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			237	266					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310146	124310146	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:124310146G>T	ENST00000328064.2	-	1	908	c.836C>A	c.(835-837)aCc>aAc	p.T279N		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CACCACAGTGGTATAGAATAG	0.413000													26	231					4.43304e-23	4.96714e-23	1	1	0
PTPRH	5794	broad.mit.edu	37	19	55710122	55710122	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:55710122C>A	ENST00000376350.3	-	8	1601	c.1579G>T	c.(1579-1581)Ggt>Tgt	p.G527C	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.G349C	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	527	Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G527S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ATGTCAGTACCTGAGGTGCTT	0.597000													35	212					1.04594e-18	1.13107e-18	1	1	0
TBC1D17	79735	broad.mit.edu	37	19	50390732	50390732	+	Splice_Site	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:50390732G>T	ENST00000221543.5	+	14	1743		c.e14-1		TBC1D17_ENST00000535102.2_Splice_Site	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17							intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCATCCCCCAGATTCCCAGGA	0.577000													40	72					1.57019e-19	1.71798e-19	1	1	0
MYO15A	51168	broad.mit.edu	37	17	18025706	18025706	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:18025706C>T	ENST00000205890.5	+	2	3930	c.3592C>T	c.(3592-3594)Cca>Tca	p.P1198S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1198	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGTCGGCCCGCCAAGCTGGCG	0.637000													38	164					0	0	1	0	0
ATG10	83734	broad.mit.edu	37	5	81283497	81283497	+	Splice_Site	SNP	G	G	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr5:81283497G>C	ENST00000282185.3	+	2	402	c.108_splice	c.e2+1	p.K36_splice	ATG10_ENST00000513634.1_Splice_Site_p.K36_splice|ATG10_ENST00000458350.3_Splice_Site_p.K36_splice|ATG10_ENST00000355178.4_Splice_Site_p.K36_splice|ATG10_ENST00000513443.1_Splice_Site_p.K36_splice	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	36					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		GACCATCAAAGGTAAGAATGG	0.328000													81	274					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327021	57327021	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:57327021C>T	ENST00000326441.9	-	10	3152	c.2789G>A	c.(2788-2790)cGt>cAt	p.R930H	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R930H|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R804H|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R806H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	930					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTGGTATTCACGGACATTTGA	0.448000													206	447					0	0	1	0	0
ZNF302	55900	broad.mit.edu	37	19	35176007	35176007	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:35176007C>T	ENST00000505242.1	+	5	1559	c.1065C>T	c.(1063-1065)caC>caT	p.H355H	ZNF302_ENST00000446502.2_Silent_p.H399H|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Silent_p.H355H|ZNF302_ENST00000457781.2_Silent_p.H355H			Q9NR11	ZN302_HUMAN	zinc finger protein 302	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTAGCTCACACCTTACTCAAC	0.373000													40	193					0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	25002795	25002795	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:25002795T>G	ENST00000261192.7	-	6	1125	c.599A>C	c.(598-600)aAt>aCt	p.N200T	BCAT1_ENST00000539780.1_Missense_Mutation_p.N163T|BCAT1_ENST00000342945.5_Missense_Mutation_p.N139T|BCAT1_ENST00000539282.1_Missense_Mutation_p.N212T|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000538118.1_Missense_Mutation_p.N199T	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	200					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	GGACACTGGATTAAAGGTTCC	0.483000													86	1672					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													11	330					0	0	1	0	0
CD300LD	100131439	broad.mit.edu	37	17	72584875	72584875	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:72584875G>A	ENST00000375352.1	-	2	234	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	C17orf77_ENST00000392620.1_Intron	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	52	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						CCTTGACACCGCCACTTCAAG	0.473000													135	444					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48548200	48548200	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:48548200G>A	ENST00000358350.4	-	42	5767	c.5163C>T	c.(5161-5163)agC>agT	p.S1721S	FRYL_ENST00000503238.1_Silent_p.S1721S|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Silent_p.S1721S	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1721					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TATTTCCTAAGCTGATACTAG	0.448000													71	122					0	0	1	0	0
ERCC6-PGBD3	0	broad.mit.edu	37	10	50725028	50725028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:50725028C>A	ENST00000515869.1	-	6	1657	c.1537G>T	c.(1537-1539)Gaa>Taa	p.E513*	ERCC6-PGBD3_ENST00000447839.2_Nonsense_Mutation_p.E513*|PGBD3_ENST00000603152.1_Nonsense_Mutation_p.E513*|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000508005.2_Nonsense_Mutation_p.E45*|PGBD3_ENST00000374127.3_Nonsense_Mutation_p.E45*	NM_001277059.1	NP_001263988.1																					CCACCTTCTTCATCTCCTGAT	0.428000													56	650					1.38909e-20	1.52883e-20	1	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94879384	94879384	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:94879384C>A	ENST00000289495.5	+	8	2363	c.2147C>A	c.(2146-2148)aCc>aAc	p.T716N	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T716N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T716N|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.T716N|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T716N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T738N	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	716	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTAGAAAAAACCCAACTCCAA	0.413000										HNSCC(28;0.073)			37	120					9.04072e-19	9.83376e-19	1	1	0
KCNH8	131096	broad.mit.edu	37	3	19575468	19575468	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:19575468C>T	ENST00000328405.2	+	16	3467	c.3201C>T	c.(3199-3201)aaC>aaT	p.N1067N		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1067						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTCTGGAAAACTTACCAGGAT	0.483000													12	409					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102518012	102518012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:102518012G>A	ENST00000393772.2	-	16	1963	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	FBXL13_ENST00000313221.4_Nonsense_Mutation_p.R513*|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.R513*|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.R513*|FBXL13_ENST00000379305.3_Nonsense_Mutation_p.R513*|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.R513*|FBXL13_ENST00000456695.1_Intron			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	513								p.R513*(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCACAATTTCGTAAACTCAAG	0.323000													63	357					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													11	112					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50657234	50657234	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:50657234G>A	ENST00000248846.5	-	21	4823	c.4719C>T	c.(4717-4719)gaC>gaT	p.D1573D	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1573					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTGCGGGGTGTCCCCATGCA	0.647000													81	176					0	0	1	0	0
UGT1A4	0	broad.mit.edu	37	2	234627926	234627926	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:234627926G>T	ENST00000373409.3	+	1	503	c.460G>T	c.(460-462)Gtt>Ttt	p.V154F	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		AACAGACCCCGTTAACCTCTG	0.483000													203	949					1.33315e-76	1.54016e-76	1	1	0
SND1	27044	broad.mit.edu	37	7	127484381	127484381	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:127484381A>G	ENST00000354725.3	+	12	1441	c.1247A>G	c.(1246-1248)aAt>aGt	p.N416S		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	416	TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TTCCAGGTCAATGTGACGGTG	0.507000													6	160					0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5365761	5365761	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:5365761G>A	ENST00000225296.3	-	3	756	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	186	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTGTATTTCCGAAGCAAAGAG	0.463000													63	248					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131793086	131793086	+	Silent	SNP	G	G	A	rs145809062		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:131793086G>A	ENST00000286355.5	-	18	5398	c.3306C>T	c.(3304-3306)ggC>ggT	p.G1102G	ADCY8_ENST00000377928.3_Silent_p.G971G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1102					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.G1102G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTTTCTTAGCGCCGATAACGC	0.567000										HNSCC(32;0.087)			244	765					0	0	1	0	0
TREX1	11277	broad.mit.edu	37	3	48508064	48508064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:48508064C>T	ENST00000296443.9	+	3	897	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	TREX1_ENST00000433541.1_Intron|TREX1_ENST00000436480.2_Nonsense_Mutation_p.Q4*|TREX1_ENST00000422277.2_Nonsense_Mutation_p.Q59*|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000492235.1_Intron|TREX1_ENST00000444177.1_Intron			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	59					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CATGGGCTCGCAGGCCCTGCC	0.637000													160	782					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22456513	22456513	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:22456513C>T	ENST00000334304.5	-	4	718	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	GPR125_ENST00000502482.1_Missense_Mutation_p.R150Q|GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	150					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GGTGAGTCCTCGAAATATGTC	0.378000													124	216					0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137809657	137809657	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:137809657G>T	ENST00000371806.3	-	1	152	c.61C>A	c.(61-63)Cat>Aat	p.H21N		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	21					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TTCTTGATATGCAGGAACAAG	0.572000													57	303					3.30226e-22	3.67797e-22	1	1	0
TOP2A	7153	broad.mit.edu	37	17	38555132	38555132	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:38555132C>T	ENST00000423485.1	-	26	3504	c.3346G>A	c.(3346-3348)Gac>Aac	p.D1116N		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1116					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GTTACGGAGTCACTCTTTTCA	0.353000													112	109					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18675802	18675802	+	Missense_Mutation	SNP	C	C	T	rs150329747	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:18675802C>T	ENST00000308799.4	+	11	2390	c.2171C>T	c.(2170-2172)aCg>aTg	p.T724M	FBXW10_ENST00000395667.1_Missense_Mutation_p.T695M|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000301938.4_Missense_Mutation_p.T642M|FBXW10_ENST00000395665.4_Missense_Mutation_p.T695M			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	695										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTggaaaaaacgaaacaaaag	0.413000													59	665					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													8	189					0	0	1	0	0
NELFCD	51497	broad.mit.edu	37	20	57564956	57564956	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:57564956C>T	ENST00000602795.1	+	7	803	c.755C>T	c.(754-756)gCc>gTc	p.A252V	NELFCD_ENST00000344018.3_Missense_Mutation_p.A243V					negative elongation factor complex member C/D																		TTTGCCCAGGCCATGATGTCC	0.637000													84	239					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68707443	68707443	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:68707443A>C	ENST00000303145.7	-	10	1676	c.1590T>G	c.(1588-1590)gaT>gaG	p.D530E	MDM1_ENST00000411698.2_Missense_Mutation_p.D495E|MDM1_ENST00000540418.1_Missense_Mutation_p.D250E	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	530						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GAGTAGTGAGATCATGATGAG	0.413000													428	199					0	0	1	0	0
CRYBB1	1414	broad.mit.edu	37	22	27008041	27008041	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:27008041C>T	ENST00000215939.2	-	3	424	c.294G>A	c.(292-294)gcG>gcA	p.A98A		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	98	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CTCACGGTCCCGCGGAGACAA	0.582000													47	328					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327909	16327909	+	Missense_Mutation	SNP	A	A	C	rs59310777	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:16327909A>C	ENST00000244769.4	-	8	1569	c.633T>G	c.(631-633)caT>caG	p.H211Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.H211Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	211	Poly-Gln.			H -> HQ (in Ref. 1; CAA55793).	cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgatgctgatgct	0.672000													4	85					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													9	397					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65941849	65941849	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:65941849G>A	ENST00000321892.4	+	23	7464	c.7403G>A	c.(7402-7404)cGt>cAt	p.R2468H	BPTF_ENST00000306378.6_Missense_Mutation_p.R2342H|BPTF_ENST00000335221.5_Missense_Mutation_p.R2468H|BPTF_ENST00000424123.3_Missense_Mutation_p.R2329H			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2468					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTCCTGTTCGTGTCCAAAGT	0.512000													67	247					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-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	p.Q269Q(15)		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						gctgctgctgctgttgttgtt	0.537000													16	281					0	0	1	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93389816	93389816	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:93389816G>A	ENST00000238994.5	-	2	906	c.822C>T	c.(820-822)gaC>gaT	p.D274D		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	274							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				GGAATGCACAGTCCTGGGGTG	0.507000													76	265					0	0	1	0	0
RP11-206L10.8	0	broad.mit.edu	37	1	741173	741176	+	RNA	DEL	ACTT	ACTT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:741173_741176delACTT	ENST00000447500.1	-	0	238																											GAAATAGAACACTTACTTTGACCA	0.373													31	110	---	---	---	---					
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:6536011_6536013delCTC	ENST00000377748.1	-	4	855_857	c.358_360delGAG	c.(358-360)del	p.E120del	PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	388	---	---	---	---					
PHF13	148479	broad.mit.edu	37	1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctg>ct	p.LK116del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	116					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		cggacaagctgaagaagaagaag	0.576													10	309	---	---	---	---					
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)afs	p.E116fs	DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505													14	186	---	---	---	---					
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttc>t	p.FI89del	VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	89					cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365													9	806	---	---	---	---					
RERE	473	broad.mit.edu	37	1	8716108	8716109	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:8716108_8716109insT	ENST00000337907.3	-	3	882_883	c.248_249insA	c.(247-249)atcfs	p.I83fs	RERE_ENST00000400908.2_Frame_Shift_Ins_p.I83fs|RERE_ENST00000400907.2_Frame_Shift_Ins_p.I83fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	83					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CATAACGAGACTTTTTTTTCGG	0.450													10	1543	---	---	---	---					
SLC6A9	6536	broad.mit.edu	37	1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aafs	p.K4fs	SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000492434.2_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627													10	3349	---	---	---	---					
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													7	290	---	---	---	---					
WDR78	79819	broad.mit.edu	37	1	67390426	67390426	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:67390426delT	ENST00000371026.3	-	1	144	c.89delA	c.(88-90)agfs	p.K30fs	WDR78_ENST00000371023.3_Frame_Shift_Del_p.K30fs|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Frame_Shift_Del_p.K30fs	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	30										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GCACCACCCCTTTTTTTGGCC	0.622													7	536	---	---	---	---					
RP11-343N15.1	0	broad.mit.edu	37	1	121137698	121137699	+	RNA	INS	-	-	TT	rs57730437		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:121137698_121137699insTT	ENST00000437515.1	-	0	329																											CTACTTACATCTTTTTGTCTTT	0.441													17	146	---	---	---	---					
ANKRD20A12P	0	broad.mit.edu	37	1	142716575	142716578	+	RNA	DEL	AAAC	AAAC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:142716575_142716578delAAAC	ENST00000595144.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422													8	215	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145116147	145116148	+	RNA	INS	-	-	A	rs138980379		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:145116147_145116148insA	ENST00000453618.1	+	0	1233_1234							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AGTAGATTGTTATTTCGTTTTT	0.416													9	19	---	---	---	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)del	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611													11	434	---	---	---	---					
DHX9	1660	broad.mit.edu	37	1	182845333	182845333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:182845333delT	ENST00000367549.3	+	17	2074	c.1964delT	c.(1963-1965)gtfs	p.V655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCTGTGTTGGTTTTTTTGCCT	0.378													8	895	---	---	---	---					
SYT2	127833	broad.mit.edu	37	1	202573647	202573649	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:202573647_202573649delTTC	ENST00000367267.1	-	3	471_473	c.279_281delGAA	c.(277-282)aac>aa	p.KN93del	SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	93					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	p.N94S(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	ctccttcttgttcttcttcttct	0.532													7	541	---	---	---	---					
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)cafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308													13	434	---	---	---	---					
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527													34	192	---	---	---	---					
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:10917819_10917820delAG	ENST00000272238.4	+	11	1043_1044	c.934_935delAG	c.(934-936)afs	p.R312fs	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	312					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604													12	390	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agt>ag	p.SS117del	ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													9	591	---	---	---	---					
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393													8	1081	---	---	---	---					
RIF1	55183	broad.mit.edu	37	2	152320541	152320541	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:152320541delA	ENST00000243326.4	+	29	4990	c.4507delA	c.(4507-4509)aafs	p.K1505fs	RIF1_ENST00000430328.2_Frame_Shift_Del_p.K1505fs|RIF1_ENST00000428287.2_Frame_Shift_Del_p.K1505fs|RIF1_ENST00000444746.2_Frame_Shift_Del_p.K1505fs|RIF1_ENST00000453091.2_Frame_Shift_Del_p.K1505fs			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1505					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.K1505fs*18(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGAACAAAATAAAAAAAAGGC	0.408													8	478	---	---	---	---					
MARCH7	64844	broad.mit.edu	37	2	160604679	160604680	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:160604679_160604680insT	ENST00000259050.3	+	5	1000_1001	c.878_879insT	c.(877-879)attfs	p.I293fs	MARCH7_ENST00000409591.1_Frame_Shift_Ins_p.I255fs|MARCH7_ENST00000409175.1_Frame_Shift_Ins_p.I293fs|MARCH7_ENST00000539065.1_Frame_Shift_Ins_p.I237fs	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						ATGTCATCTACTTTTTTTTCAC	0.396													8	356	---	---	---	---					
MLTK	0	broad.mit.edu	37	2	174097115	174097117	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:174097115_174097117delGCT	ENST00000375213.3	+	14	1209_1211	c.1131_1133delGCT	c.(1129-1134)cgg>cg	p.RL377del	MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_In_Frame_Del_p.RL377del	NM_016653.2	NP_057737.2																					CAGGGAAGCGGCTGCTGCTGCTG	0.433													7	1290	---	---	---	---					
CIR1	9541	broad.mit.edu	37	2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)acafs	p.T289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381													11	431	---	---	---	---					
SLC11A1	6556	broad.mit.edu	37	2	219252307	219252307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:219252307delT	ENST00000233202.6	+	7	931	c.591delT	c.(589-591)gcfs	p.A197fs	SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	197					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAAGCTTTTTTTGGAC	0.448													11	2385	---	---	---	---					
UGT1A8	0	broad.mit.edu	37	2	234526711	234526711	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:234526711delT	ENST00000373450.4	+	1	421	c.358delT	c.(358-360)ttfs	p.F121fs		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTTAACTTATTTTTTTCGCA	0.373													7	1020	---	---	---	---					
DLEC1	9940	broad.mit.edu	37	3	38162039	38162040	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:38162039_38162040delGA	ENST00000308059.6	+	34	4826_4827	c.4805_4806delGA	c.(4804-4806)gfs	p.G1602fs	DLEC1_ENST00000452631.2_Frame_Shift_Del_p.G1605fs|DLEC1_ENST00000346219.3_Frame_Shift_Del_p.G1602fs			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1602					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGTGCGAGTGGAGAGAGAGAGA	0.579													7	292	---	---	---	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)cat>ca	p.HH931del		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	931	Poly-His.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502													8	907	---	---	---	---					
RP11-325B23.2	0	broad.mit.edu	37	3	98031434	98031434	+	RNA	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:98031434delA	ENST00000508616.1	+	0	149				OR5H8P_ENST00000394191.2_RNA																							TTACAATCTTAAAAAAAAAAG	0.333													10	159	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													7	1294	---	---	---	---					
ZBTB20	26137	broad.mit.edu	37	3	114069198	114069198	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:114069198delT	ENST00000462705.1	-	11	2329	c.1508delA	c.(1507-1509)agfs	p.K503fs	ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.K576fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.K503fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTCATAAGGCTTTTTTTCGCC	0.577													7	710	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gca>gc	p.AA180del	TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483													8	274	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)del	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													9	417	---	---	---	---					
DHX36	170506	broad.mit.edu	37	3	154032977	154032978	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:154032977_154032978insT	ENST00000496811.1	-	3	540_541	c.460_461insA	c.(460-462)gttfs	p.V154fs	DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	154						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTCTAAACATTTTTTTTTCT	0.337													8	277	---	---	---	---					
FXR1	0	broad.mit.edu	37	3	180666228	180666228	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:180666228delA	ENST00000357559.4	+	5	748	c.364delA	c.(364-366)aafs	p.K123fs	FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs|FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	123					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.N124fs*14(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAACTGTCAAAAAAAATAC	0.333													10	330	---	---	---	---					
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:184039744_184039746delGAA	ENST00000342981.4	+	9	1786_1788	c.1372_1374delGAA	c.(1372-1374)del	p.E465del	EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562													8	504	---	---	---	---					
SEC31A	22872	broad.mit.edu	37	4	83785564	83785565	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:83785564_83785565insT	ENST00000432794.1	-	11	1547_1548	c.1384_1385insA	c.(1384-1386)tgafs	p.*462fs	SEC31A_ENST00000395310.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.*234fs|SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.*457fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.*462fs			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	462	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	p.I462fs*16(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AGAAGCATCAATTTTTTTTTGG	0.356													10	321	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gct>g	p.EA158del	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626													8	646	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:89618484_89618486delTCC	ENST00000323061.5	-	1	900_902	c.420_422delGGA	c.(418-423)gaa>ga	p.EE142del	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	142	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		gtactcctcttcctcctcctcct	0.606													13	431	---	---	---	---					
SCLT1	132320	broad.mit.edu	37	4	129864162	129864163	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:129864162_129864163insT	ENST00000281142.5	-	17	2123_2124	c.1620_1621insA	c.(1618-1623)aaccaafs	p.NQ540fs	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	540						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTTACTTTGGCTTTTTTTTGAG	0.356													8	547	---	---	---	---					
SORBS2	8470	broad.mit.edu	37	4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:186544620_186544622delGGT	ENST00000431808.1	-	14	2512_2514	c.1949_1951delACC	c.(1948-1953)cgc>c	p.HR650del	SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522													9	406	---	---	---	---					
MYO10	4651	broad.mit.edu	37	5	16676227	16676227	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr5:16676227delA	ENST00000513610.1	-	34	5033	c.4579delT	c.(4579-4581)acfs	p.Y1527fs	MYO10_ENST00000515803.1_Frame_Shift_Del_p.Y866fs|MYO10_ENST00000505695.1_Frame_Shift_Del_p.Y866fs|MYO10_ENST00000274203.9_Frame_Shift_Del_p.Y884fs|MYO10_ENST00000427430.2_Frame_Shift_Del_p.Y884fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1527					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTCCGCTTGTAAATCTGTTCC	0.448													145	237	---	---	---	---					
PPARGC1B	133522	broad.mit.edu	37	5	149216400	149216402	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr5:149216400_149216402delCAG	ENST00000309241.5	+	8	2414_2416	c.2382_2384delCAG	c.(2380-2385)gac>ga	p.DS794del	PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	794	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	p.S795N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTTTGAAGACAGCAGCAGCAGC	0.601													12	609	---	---	---	---					
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:29455156_29455157delAC	ENST00000377127.3	-	1	581_582	c.523_524delGT	c.(523-525)cfs	p.V175fs		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	175						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGGAAGAGGACACACACACAC	0.495													9	306	---	---	---	---					
ZNRD1-AS1	0	broad.mit.edu	37	6	29977389	29977393	+	RNA	DEL	CTTCT	CTTCT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:29977389_29977393delCTTCT	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA																							AGAACCCTGACTTCTCTTTCTGCAA	0.488													10	154	---	---	---	---					
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctc>ct	p.LC138del				Q99750	MDFI_HUMAN	MyoD family inhibitor	199					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655													14	405	---	---	---	---					
LPAL2	0	broad.mit.edu	37	6	160931971	160931972	+	RNA	INS	-	-	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:160931971_160931972insA	ENST00000335388.5	-	0	166					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		AATTATTACACAAAAAAAACTA	0.322													8	548	---	---	---	---					
INHBA	3624	broad.mit.edu	37	7	41729741	41729743	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:41729741_41729743delTTC	ENST00000242208.4	-	3	1032_1034	c.786_788delGAA	c.(784-789)aaa>aa	p.KK262del	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_In_Frame_Del_p.KK262del|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	262					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ctcctcttctttcttcttcttct	0.581										TSP Lung(11;0.080)			7	394	---	---	---	---					
PURB	5814	broad.mit.edu	37	7	44924131	44924131	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:44924131delA	ENST00000395699.2	-	1	829	c.817delT	c.(817-819)gcfs	p.C273fs		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	273					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GCATACCGGCAAAAGGCGCCT	0.582													7	1069	---	---	---	---					
ABCA13	154664	broad.mit.edu	37	7	48318519	48318519	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:48318519delA	ENST00000435803.1	+	18	7752	c.7728delA	c.(7726-7728)ttfs	p.L2576fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2576					transport	integral to membrane	ATP binding|ATPase activity	p.L2576F(3)|p.L2521F(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAGCTACTTTAAAAAAAATAG	0.313													7	690	---	---	---	---					
ZNF733P	0	broad.mit.edu	37	7	62753023	62753024	+	RNA	DEL	AT	AT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:62753023_62753024delAT	ENST00000331425.6	-	0	411_412					NR_003952.1																						GTTGACAAACATTGGTTAACTT	0.312													8	91	---	---	---	---					
CCT6P3	0	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621					NR_033416.1																						CTTTCTGTAACTTTTTTTTTTT	0.317													19	108	---	---	---	---					
CCT6P1	0	broad.mit.edu	37	7	65226569	65226569	+	RNA	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:65226569delT	ENST00000442266.1	+	0	1167																											gcccggccCCttttttttttt	0.413													11	24	---	---	---	---					
TYW1B	441250	broad.mit.edu	37	7	72040750	72040751	+	RNA	INS	-	-	A	rs72347331		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:72040750_72040751insA	ENST00000438125.1	-	0	1399							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										AACATCCCTAGAAAAAAAAAAT	0.332													8	290	---	---	---	---					
PMS2P3	0	broad.mit.edu	37	7	75145720	75145721	+	RNA	DEL	AT	AT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:75145720_75145721delAT	ENST00000418756.1	-	0	618					NR_028059.1															lung(1)	1						TCCTTTGGGGatatatatatat	0.302													11	42	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92760737	92760738	+	Frame_Shift_Ins	INS	-	-	T	rs10282508	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:92760737_92760738insT	ENST00000318238.4	-	5	5763_5764	c.4547_4548insA	c.(4546-4548)agafs	p.R1516fs	SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.R1516fs|SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.R1516fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1516			N -> T (in dbSNP:rs10282508).							central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTGACTTCATTTTTTTTCCA	0.391													7	816	---	---	---	---					
TRIM4	89122	broad.mit.edu	37	7	99506323	99506325	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:99506323_99506325delTCT	ENST00000355947.2	-	4	807_809	c.678_680delAGA	c.(676-681)gag>ga	p.EE226del	TRIM4_ENST00000354241.5_In_Frame_Del_p.EE200del|TRIM4_ENST00000349062.2_In_Frame_Del_p.EE200del	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	226					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CTTCTTCGTCTCTTCTTCTTCTT	0.443													8	840	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100280978	100280980	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:100280978_100280980delCTG	ENST00000275732.5	-	18	3349_3351	c.2140_2142delCAG	c.(2140-2142)del	p.Q714del		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	714										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTGCTCCTCCTGCTGCTGCTGG	0.650													11	1268	---	---	---	---					
SRRT	51593	broad.mit.edu	37	7	100482040	100482042	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:100482040_100482042delAGG	ENST00000388793.4	+	7	1029_1031	c.809_811delAGG	c.(808-813)cag>c	p.QE270del	SRRT_ENST00000432932.1_In_Frame_Del_p.QE270del|SRRT_ENST00000457580.2_In_Frame_Del_p.QE270del|SRRT_ENST00000347433.4_In_Frame_Del_p.QE270del	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	270	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATCCTGGAGCAGGAGGAGGAGGA	0.596													8	228	---	---	---	---					
POLR2J	5439	broad.mit.edu	37	7	102119254	102119256	+	Splice_Site	DEL	CTT	CTT	-	rs141678884		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:102119254_102119256delCTT	ENST00000292614.5	-	1	98_100	c.53_splice	c.e1+1	p.K18_splice	POLR2J_ENST00000393794.3_Splice_Site_p.K18_splice	NM_006234.4	NP_006225.1	P52435	RPB11_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa	18					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity	p.?(1)		pancreas(2)	2						GCGTCACTTACTTCTTCTCGCCC	0.685											OREG0018232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	217	---	---	---	---					
SRPK2	6733	broad.mit.edu	37	7	104844170	104844172	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:104844170_104844172delGGT	ENST00000357311.3	-	2	270_272	c.99_101delACC	c.(97-102)ccg>cc	p.PP35del	SRPK2_ENST00000393651.3_In_Frame_Del_p.PP46del|SRPK2_ENST00000489828.1_In_Frame_Del_p.PP35del	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	35					angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P33P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CAAAggtggcggtggtggtggtg	0.552													7	162	---	---	---	---					
PUS7	54517	broad.mit.edu	37	7	105142878	105142878	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:105142878delT	ENST00000356362.2	-	5	933	c.719delA	c.(718-720)agfs	p.K240fs	PUS7_ENST00000469408.1_Frame_Shift_Del_p.K240fs	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	240					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TGCCAAAGCCTTTTTCCCAGC	0.537													7	738	---	---	---	---					
TRBV7-7	0	broad.mit.edu	37	7	142120214	142120215	+	RNA	DEL	AC	AC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:142120214_142120215delAC	ENST00000390377.1	-	0	49																											acacatgcatacacacacacac	0.436													7	532	---	---	---	---					
NOM1	64434	broad.mit.edu	37	7	156743209	156743211	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:156743209_156743211delGAG	ENST00000275820.3	+	1	793_795	c.778_780delGAG	c.(778-780)del	p.E264del		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	264	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ggacgaaagtgaggaggaggagg	0.552													10	385	---	---	---	---					
SPIDR	23514	broad.mit.edu	37	8	48648055	48648057	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:48648055_48648057delGGT	ENST00000518074.1	+	19	2783_2785	c.2612_2614delGGT	c.(2611-2616)ggg>g	p.GW871del	SPIDR_ENST00000517693.1_3'UTR|SPIDR_ENST00000518060.1_3'UTR|SPIDR_ENST00000541342.1_3'UTR|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000297423.4_3'UTR					scaffolding protein involved in DNA repair																		TGGCTGCAAGGGTGGTGGTGGTG	0.468													7	267	---	---	---	---					
ZNF704	619279	broad.mit.edu	37	8	81733778	81733778	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:81733778delT	ENST00000327835.3	-	2	283	c.52delA	c.(52-54)tgfs	p.M18fs		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	18						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGATGAGACATTTTTTTACCA	0.423													9	2111	---	---	---	---					
UBR5	51366	broad.mit.edu	37	8	103291141	103291141	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:103291141delA	ENST00000520539.1	-	44	6807	c.6201delT	c.(6199-6201)ttfs	p.F2067fs	UBR5_ENST00000521922.1_Frame_Shift_Del_p.F2061fs|UBR5_ENST00000220959.4_Frame_Shift_Del_p.F2067fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2067					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTGGACGGCCAAAAAGATCCT	0.358													8	1241	---	---	---	---					
OXR1	55074	broad.mit.edu	37	8	107704955	107704955	+	Splice_Site	DEL	G	G	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:107704955delG	ENST00000445937.1	+	7	786		c.e7-1		OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000442977.2_Splice_Site|OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000452423.2_Splice_Site	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1						cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAAAAAAGAATCCTGATG	0.348													7	350	---	---	---	---					
UTP23	84294	broad.mit.edu	37	8	117783760	117783760	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:117783760delC	ENST00000309822.2	+	3	530	c.429delC	c.(427-429)aafs	p.N143fs	UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_Intron|UTP23_ENST00000357148.3_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	143					rRNA processing	nucleolus				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						TTATTCAGAACACTATGGTTT	0.348													27	785	---	---	---	---					
MLLT3	4300	broad.mit.edu	37	9	20413952	20413952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:20413952delT	ENST00000380338.4	-	5	1178	c.892delA	c.(892-894)ggfs	p.R298fs	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			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)		CTCTTTTTCCTTTTTTTGGCT	0.393			T	MLL	ALL								7	960	---	---	---	---					
HRCT1	646962	broad.mit.edu	37	9	35906348	35906350	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:35906348_35906350delCTG	ENST00000354323.2	+	1	160_162	c.64_66delCTG	c.(64-66)del	p.L28del		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	28						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TGTGGCGGTCctgctgctgctgc	0.670													10	154	---	---	---	---					
RAD23B	5887	broad.mit.edu	37	9	110064366	110064366	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:110064366delA	ENST00000358015.3	+	3	550	c.199delA	c.(199-201)aafs	p.K67fs	RAD23B_ENST00000416373.2_5'UTR	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	67	Ubiquitin-like.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATTGATGAGAAAAACTTTGT	0.303								Direct reversal of damage;Nucleotide excision repair (NER)					94	425	---	---	---	---					
TSC1	0	broad.mit.edu	37	9	135771988	135771990	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:135771988_135771990delGCT	ENST00000298552.3	-	23	3348_3350	c.3127_3129delAGC	c.(3127-3129)del	p.S1043del	TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del|TSC1_ENST00000545250.1_In_Frame_Del_p.S992del	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1043	Poly-Ser.				activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.S1043N(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TAGAAAGCTCgctgctgctgctg	0.640			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				7	230	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:55587198_55587200delGGC	ENST00000373965.2	-	33	4735_4737	c.4341_4343delGCC	c.(4339-4344)cct>cc	p.PP1449del	PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1442					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)			9	390	---	---	---	---					
ARID5B	84159	broad.mit.edu	37	10	63852298	63852298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:63852298delA	ENST00000279873.7	+	10	3486	c.3076delA	c.(3076-3078)aafs	p.K1027fs	ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1027					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GATTGCAGGGAAAAAGGCCCG	0.607													7	517	---	---	---	---					
IKZF5	64376	broad.mit.edu	37	10	124758126	124758127	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:124758126_124758127insT	ENST00000368886.5	-	3	335_336	c.15_16insA	c.(13-18)aacagafs	p.NR5fs	IKZF5_ENST00000479103.1_5'UTR	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		AAAGGCTCTGGTTTTTTTTCAC	0.371													7	360	---	---	---	---					
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:281553_281555delGAG	ENST00000534750.1	+	4	2024_2026	c.1819_1821delGAG	c.(1819-1821)del	p.E611del	NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.670													13	840	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													15	511	---	---	---	---					
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)del	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517													8	851	---	---	---	---					
SLC22A9	114571	broad.mit.edu	37	11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-993)gcafs	p.A331fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	331					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGGAGGCAGCACAAAAAAAAA	0.406													10	474	---	---	---	---					
C11orf95	65998	broad.mit.edu	37	11	63533335	63533337	+	RNA	DEL	TCC	TCC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:63533335_63533337delTCC	ENST00000433688.1	-	0	597_599							C9JLR9	CK095_HUMAN	chromosome 11 open reading frame 95							intracellular	zinc ion binding										ctcctcttcttcctcctcctcct	0.670													2	4	---	---	---	---					
FAU	2197	broad.mit.edu	37	11	64888248	64888250	+	In_Frame_Del	DEL	TCT	TCT	-	rs1065065		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:64888248_64888250delTCT	ENST00000529639.1	-	5	696_698	c.305_307delAGA	c.(304-309)aca>a	p.KT102del	FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del	NM_001997.4	NP_001988.1	P35544	UBIM_HUMAN	Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed	0										NS(3)|kidney(1)|large_intestine(2)	6						GCCCGACCTGTCTTCTTCTTCTT	0.542													13	399	---	---	---	---					
UVRAG	7405	broad.mit.edu	37	11	75694430	75694431	+	Splice_Site	INS	-	-	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:75694430_75694431insA	ENST00000356136.3	+	8	940_941		c.e8-1		UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated						DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TATTTATTTAGAAAAAAAAAAG	0.302													8	149	---	---	---	---					
IFFO1	25900	broad.mit.edu	37	12	6649704	6649706	+	In_Frame_Del	DEL	GGC	GGC	-	rs144019095		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:6649704_6649706delGGC	ENST00000436152.2	-	11	1273_1275	c.714_716delGCC	c.(712-717)cca>cc	p.PP238del	IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del|IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	541						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601													10	1280	---	---	---	---					
ACSM4	341392	broad.mit.edu	37	12	7456934	7456935	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:7456934_7456935insT	ENST00000399422.4	+	1	55_56	c.7_8insT	c.(7-9)tttfs	p.F3fs		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	3					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						AACCATGAAGATTTTTTTCCGC	0.475													7	2251	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aag>aa	p.NK230del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601													9	1623	---	---	---	---					
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tac>ta	p.YF102del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													11	1215	---	---	---	---					
CUX2	23316	broad.mit.edu	37	12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:111758235_111758237delTCC	ENST00000261726.6	+	17	2576_2578	c.2422_2424delTCC	c.(2422-2424)del	p.S813del		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	813	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTCGCTGTCCTCCTCCTCCT	0.749													9	204	---	---	---	---					
EEF1DP3	0	broad.mit.edu	37	13	32527507	32527508	+	RNA	DEL	GT	GT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr13:32527507_32527508delGT	ENST00000428783.1	+	0	1207_1208																											TCTGGCCTGAGTGTGTGTGTGT	0.460													8	277	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086382	20086383	+	RNA	INS	-	-	AAAA			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:20086382_20086383insAAAA	ENST00000548261.1	+	0	135																											TCTTACAAGGTAAAAAAAATGA	0.312													10	51	---	---	---	---					
IL25	0	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tfs	p.C168fs	IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604													11	655	---	---	---	---					
ELMSAN1	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)del	p.Q262del	ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GTAGGgctgcctgctgctgctgc	0.650													7	135	---	---	---	---					
CHGA	1113	broad.mit.edu	37	14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)del	p.E236del	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645													7	180	---	---	---	---					
NARG2	79664	broad.mit.edu	37	15	60745782	60745782	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:60745782delA	ENST00000561114.1	-	9	1307	c.1145delT	c.(1144-1146)tcfs	p.F382fs	NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron	NM_001276385.1	NP_001263314.1	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	0						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CCCTTAGGGGAAAAAAAAAGC	0.338													7	248	---	---	---	---					
NOX5	79400	broad.mit.edu	37	15	69331226	69331226	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:69331226delT	ENST00000260364.5	+	10	1648	c.1347delT	c.(1345-1347)ccfs	p.P449fs	NOX5_ENST00000448182.3_Frame_Shift_Del_p.P421fs|NOX5_ENST00000388866.3_Frame_Shift_Del_p.P467fs|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_Frame_Shift_Del_p.P439fs|NOX5_ENST00000455873.3_Frame_Shift_Del_p.P432fs			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	467	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	p.H452fs*10(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGCGGCCCCCTTTTTTTCACT	0.537													7	694	---	---	---	---					
TLE3	7090	broad.mit.edu	37	15	70351067	70351068	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:70351067_70351068insG	ENST00000558939.1	-	11	2229_2230	c.852_853insC	c.(850-855)ccccagfs	p.Q285fs	TLE3_ENST00000560589.1_Frame_Shift_Ins_p.Q229fs|TLE3_ENST00000317509.8_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000539550.1_Frame_Shift_Ins_p.Q229fs|TLE3_ENST00000557907.1_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000559048.1_Frame_Shift_Ins_p.Q290fs|TLE3_ENST00000557997.1_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000442299.2_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000440567.3_Frame_Shift_Ins_p.Q278fs|TLE3_ENST00000558379.1_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000451782.2_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000559929.1_Frame_Shift_Ins_p.Q295fs|TLE3_ENST00000560939.1_Frame_Shift_Ins_p.Q290fs|TLE3_ENST00000558201.1_Frame_Shift_Ins_p.Q291fs			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	285	Pro/Ser-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCAGGGCTGGTGGGGGCATCTT	0.604													14	58	---	---	---	---					
RP11-266O8.1	0	broad.mit.edu	37	15	93974509	93974510	+	RNA	DEL	TC	TC	-	rs57286078		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:93974509_93974510delTC	ENST00000543286.1	+	0	545																											TTGGCTGGGTTCtttttttttt	0.431													11	196	---	---	---	---					
ARHGAP17	55114	broad.mit.edu	37	16	24942180	24942180	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:24942180delG	ENST00000289968.6	-	19	2509	c.2440delC	c.(2440-2442)aafs	p.Q814fs	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Frame_Shift_Del_p.Q736fs	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)		CCAGGAGGTTGGGGGGGTGGG	0.577													8	1388	---	---	---	---					
IL4R	3566	broad.mit.edu	37	16	27373787	27373789	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:27373787_27373789delGAG	ENST00000395762.2	+	11	1373_1375	c.1114_1116delGAG	c.(1114-1116)del	p.E376del	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000170630.2_In_Frame_Del_p.E376del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	376	Poly-Glu.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGTGGAGTGTGAGGAGGAGGAGG	0.591													7	370	---	---	---	---					
SLC6A10P	0	broad.mit.edu	37	16	32896136	32896137	+	RNA	DEL	TG	TG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:32896136_32896137delTG	ENST00000330048.5	-	0	233					NR_003083.2																						agtggCCCATtgtgtgtgtgtg	0.678													4	5	---	---	---	---					
KRT17P1	0	broad.mit.edu	37	17	16748911	16748913	+	RNA	DEL	GCT	GCT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:16748911_16748913delGCT	ENST00000580363.1	-	0	282_284																				lung(4)	4						CGCCCTCAAAGCTGCTGCTGCCA	0.650													13	34	---	---	---	---					
EPN2	22905	broad.mit.edu	37	17	19232950	19232950	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:19232950delA	ENST00000314728.5	+	9	1885	c.1401delA	c.(1399-1401)tcfs	p.S467fs	EPN2_ENST00000395618.3_Frame_Shift_Del_p.S182fs|EPN2_ENST00000571254.1_Frame_Shift_Del_p.S403fs|EPN2_ENST00000347697.2_Frame_Shift_Del_p.S410fs|EPN2_ENST00000575595.1_Frame_Shift_Del_p.S175fs|EPN2_ENST00000395620.2_Frame_Shift_Del_p.S410fs|EPN2_ENST00000395626.1_Frame_Shift_Del_p.S467fs	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	467	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding	p.T470fs*19(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TTCGGACTTCAAAAAAAACAG	0.393													11	419	---	---	---	---					
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)del	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537													14	1102	---	---	---	---					
SUZ12P	0	broad.mit.edu	37	17	29096087	29096087	+	RNA	DEL	T	T	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:29096087delT	ENST00000582557.1	+	0	1381																											ATATTGGTAATTTTTTTTTTT	0.343													7	110	---	---	---	---					
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaa>ga	p.EE840del	GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616													9	230	---	---	---	---					
KRT10	3858	broad.mit.edu	37	17	38975362	38975370	+	In_Frame_Del	DEL	GCCGCCGTA	GCCGCCGTA	-	rs35710360		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:38975362_38975370delGCCGCCGTA	ENST00000269576.5	-	7	1426_1434	c.1417_1425delTACGGCGGC	c.(1417-1425)del	p.YGG473del		NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	473	Gly-rich.|Tail.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				cggagcttccgccgccgtagccgccgccg	0.713													11	49	---	---	---	---					
BZRAP1	9256	broad.mit.edu	37	17	56387404	56387406	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:56387404_56387406delTCC	ENST00000355701.3	-	21	4683_4685	c.3813_3815delGGA	c.(3811-3816)gaa>ga	p.EE1273del	BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del|BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1273	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGctcctcttcctcctcctcct	0.586													7	283	---	---	---	---					
RP11-178C3.2	0	broad.mit.edu	37	17	58050857	58050857	+	RNA	DEL	G	G	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:58050857delG	ENST00000586209.1	+	0	158																											TTTTTTTTTTGGCAGTTTTTA	0.423													7	74	---	---	---	---					
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr18:12986927_12986929delTCC	ENST00000399892.2	+	9	1238_1240	c.1137_1139delTCC	c.(1135-1140)ctt>ct	p.LP379del	SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													7	346	---	---	---	---					
SERPINB11	89778	broad.mit.edu	37	18	61378551	61378552	+	RNA	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr18:61378551_61378552insT	ENST00000544088.1	+	0	230				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CAAAAGATCCCTTTTTTTTCTT	0.337													8	355	---	---	---	---					
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)ggg>gg	p.GL34del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	34					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768													8	318	---	---	---	---					
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:12430217delA	ENST00000293725.5	-	4	827	c.622delT	c.(622-624)ggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393													13	1063	---	---	---	---					
ZNF799	90576	broad.mit.edu	37	19	12502590	12502590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:12502590delA	ENST00000419318.1	-	4	1275	c.526delT	c.(526-528)ggfs	p.W176fs	ZNF799_ENST00000430385.3_Frame_Shift_Del_p.W208fs|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AAACTGGGCCAAAAAAACGCT	0.413													8	918	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	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													8	1033	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43440068	43440069	+	RNA	DEL	AC	AC	-	rs72310923		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:43440068_43440069delAC	ENST00000446844.3	-	0	154				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				acacacacaaacacacacacac	0.495													9	172	---	---	---	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctt>ct	p.LL23del		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													14	709	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)ggc>g	p.EG705del	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586													8	717	---	---	---	---					
PTH2	113091	broad.mit.edu	37	19	49926531	49926533	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:49926531_49926533delCAG	ENST00000270631.1	-	1	165_167	c.64_66delCTG	c.(64-66)del	p.L22del		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		AGGGCACCACcagcagcagcagc	0.690													8	98	---	---	---	---					
LILRB1	0	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)del	p.L479del	LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)			17	380	---	---	---	---					
KIR2DL4	0	broad.mit.edu	37	19	55324675	55324675	+	Frame_Shift_Del	DEL	A	A	-	rs148484482		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:55324675delA	ENST00000396284.2	+	6	796	c.796delA	c.(796-798)aafs	p.K268fs	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR2DL4_ENST00000346587.4_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000345540.5_Intron					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4									p.M271fs*>3(1)		NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTGGTGCTCCAAAAAAAAAGT	0.532													7	259	---	---	---	---					
BCL2L1	598	broad.mit.edu	37	20	30309591	30309591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:30309591delA	ENST00000307677.4	-	2	841	c.431delT	c.(430-432)tcfs	p.F144fs	BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	144					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GCCGAAGGAGAAAAAGGCCAC	0.542													7	1732	---	---	---	---					
SYCP2	10388	broad.mit.edu	37	20	58452518	58452519	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:58452518_58452519insT	ENST00000357552.3	-	33	3296_3297	c.3071_3072insA	c.(3070-3072)atafs	p.I1024fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1024					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATCTTTATAGTTTTTTTTTGT	0.327													8	340	---	---	---	---					
YTHDF1	54915	broad.mit.edu	37	20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gtg>g	p.EV547del	YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557													7	485	---	---	---	---					
TCP10L	140290	broad.mit.edu	37	21	33949091	33949091	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr21:33949091delC	ENST00000300258.3	-	5	754	c.641delG	c.(640-642)gtfs	p.G214fs	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCTTCAGACACCCCCCCGTCT	0.478													7	451	---	---	---	---					
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr21:46276194_46276196delGCA	ENST00000330938.3	-	4	581_583	c.361_363delTGC	c.(361-363)del	p.C121del	PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Intron	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	121	Poly-Cys.				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616													8	337	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20918793	20918795	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:20918793_20918795delCAG	ENST00000263205.7	+	6	577_579	c.508_510delCAG	c.(508-510)del	p.Q174del	MED15_ENST00000541476.1_In_Frame_Del_p.Q148del|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	174	Poly-Gln.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagttccagcagcagcagc	0.616											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	200	---	---	---	---					
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664078	22664079	+	RNA	DEL	TT	TT	-	rs114253646	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:22664078_22664079delTT	ENST00000426066.1	+	0	623					NR_027293.1																						TGTGTGTGTGTTTTTATCTTGC	0.381													11	345	---	---	---	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:30742328_30742330delCTG	ENST00000215793.7	-	3	518_520	c.364_366delCAG	c.(364-366)del	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606													8	493	---	---	---	---					
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	RNA	DEL	C	C	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:42898666delC	ENST00000359906.2	+	0	409					NR_027786.1				serine hydrolase-like											endometrium(1)|large_intestine(1)	2						CCATATGGTGCCCCCCCCCCA	0.592													13	113	---	---	---	---					
AR	367	broad.mit.edu	37	X	66765159	66765167	+	In_Frame_Del	DEL	GCAGCAGCA	GCAGCAGCA	-	rs72181988		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chrX:66765159_66765167delGCAGCAGCA	ENST00000374690.3	+	1	695_703	c.171_179delGCAGCAGCA	c.(169-180)ctg>ct	p.LQQQ57del	AR_ENST00000504326.1_In_Frame_Del_p.LQQQ57del|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_In_Frame_Del_p.LQQQ57del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	57	Modulating.|Poly-Leu.		L -> Q (in prostate cancer).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TGCTGCTGCTgcagcagcagcagcagcag	0.665									Androgen Insensitivity Syndrome				12	90	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		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)					CGTTGAACCCgctgctgctgctg	0.433													13	410	---	---	---	---					
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tgc>t	p.SC62del	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562													10	400	---	---	---	---					
RBMY2EP	0	broad.mit.edu	37	Y	23563322	23563323	+	RNA	DEL	AC	AC	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chrY:23563322_23563323delAC	ENST00000444169.1	-	0	86					NR_001574.2																						ATATGAAAATacacacacacac	0.302													9	76	---	---	---	---					
