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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GOLGA2P5	55592	broad.mit.edu	37	12	100559710	100559710	+	RNA	SNP	T	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:100559710T>G	uc001tgy.4	-	3		c.710A>C			GOLGA2P5_uc021rcm.1_Intron|GOLGA2P5_uc001tgz.4_Non-coding_Transcript|DQ571064_uc001tha.3_5'Flank					Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 2, non-coding RNA.																		CAGAGGCTGGTGCCCGCCTTC	0.602000														52			8		0	0	0.105934	0	0
UQCC	55245	broad.mit.edu	37	20	33962046	33962046	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:33962046G>A	uc002xcd.3	-	4	526	c.347C>T	c.(346-348)gCg>gTg	p.A116V	UQCC_uc010zuy.2_Missense_Mutation_p.A17V|UQCC_uc021wcl.1_Intron|UQCC_uc010zva.2_Intron|UQCC_uc010gfb.3_Missense_Mutation_p.A116V|UQCC_uc010zvb.2_Missense_Mutation_p.A48V|UQCC_uc002xcg.3_Intron|UQCC_uc002xcf.3_Intron|UQCC_uc010zuz.2_Intron|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_Missense_Mutation_p.A70V|UQCC_uc010gfd.2_Missense_Mutation_p.A102V	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase complex chaperone (UQCC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	116						cytoplasmic membrane-bounded vesicle				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCGCAGGGCCGCAATCTTAAT	0.363000														481			7		0	0	0.058154	0	0
UBQLN2	29978	broad.mit.edu	37	X	56590932	56590932	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:56590932C>G	uc004dus.3	+	0	907	c.626C>G	c.(625-627)cCa>cGa	p.P209R	UBQLN2_uc011moq.1_Missense_Mutation_p.P209R	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	Homo sapiens ubiquilin 2 (UBQLN2), mRNA.	209						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						ATGGCTAATCCACAGATGCAG	0.463000														189			33		0	0	0.064281	0	0
LILRP2	79166	broad.mit.edu	37	19	55221570	55221570	+	RNA	SNP	A	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:55221570A>C	uc002qgs.1	+	0		c.1970A>C			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		TACAGATGCTACGGTGCACAC	0.677000														314			6		0	0	0.069234	0	0
CNTN5	53942	broad.mit.edu	37	11	100211266	100211266	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:100211266C>A	uc001pga.3	+	21	3306	c.2802C>A	c.(2800-2802)ttC>ttA	p.F934L	CNTN5_uc021qpb.1_Missense_Mutation_p.F934L|CNTN5_uc021qpc.1_Missense_Mutation_p.F860L|CNTN5_uc010ruk.2_Missense_Mutation_p.F205L	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	934	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.F934F(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATGAGTCTTTCGTCATCCTAA	0.423000														113			32		3.86903e-22	4.3849e-22	0.054565	1	0
TMEM145	284339	broad.mit.edu	37	19	42821112	42821112	+	Silent	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:42821112G>A	uc002otk.1	+	10	949	c.897G>A	c.(895-897)gcG>gcA	p.A299A		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	299						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TCTACGAGGCGGAAGTGAGTC	0.657000														133			4		0	0	0.021553	0	0
TMX1	81542	broad.mit.edu	37	14	51716045	51716045	+	Splice_Site	SNP	A	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:51716045A>T	uc001wza.4	+	5	569	c.444_splice	c.e5-1	p.L148_splice	TMX1_uc010aoa.3_Splice_Site_p.L64_splice	NM_030755	NP_110382	Q9H3N1	TMX1_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 1 (TMX1), mRNA.	148					DNA replication|ER to Golgi vesicle-mediated transport|anti-apoptosis|cell proliferation|cell redox homeostasis|electron transport chain|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						TATTTTTAGGATGAGTAGTAT	0.284000														313			35		0	0	0.092188	0	0
STK36	27148	broad.mit.edu	37	2	219545333	219545333	+	Silent	SNP	C	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:219545333C>A	uc002viu.3	+	9	1423	c.1144C>A	c.(1144-1146)Cgg>Agg	p.R382R	STK36_uc002viv.3_Silent_p.R382R	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	382					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CAGGGAAAACCGGACCACCCC	0.552000														131			4		0.000157383	0.000168271	0.038147	1	0
GPR112	139378	broad.mit.edu	37	X	135428344	135428344	+	Missense_Mutation	SNP	C	G	G	rs138190399	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:135428344C>G	uc004ezu.1	+	5	2770	c.2479C>G	c.(2479-2481)Cca>Gca	p.P827A	GPR112_uc010nsb.1_Missense_Mutation_p.P622A|GPR112_uc010nsc.1_Missense_Mutation_p.P594A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	827					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GACCCCTGTACCAAAGTCAGC	0.388000														345			7		0	0	0.029380	0	0
KRT37	8688	broad.mit.edu	37	17	39579066	39579066	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:39579066C>A	uc002hwp.1	-	2	743	c.696G>T	c.(694-696)aaG>aaT	p.K232N		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	232	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCTGCTCCTCCTTCAGGGACT	0.682000														239			25		3.65163e-15	4.08406e-15	0.030593	1	0
LRP11	84918	broad.mit.edu	37	6	150164252	150164252	+	Silent	SNP	T	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:150164252T>C	uc003qng.2	-	2	1104	c.780A>G	c.(778-780)caA>caG	p.Q260Q	LRP11_uc003qnh.1_Silent_p.Q260Q	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 11 (LRP11), mRNA.	260	PKD.					integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GGGTTCCTGATTGAGGCACCT	0.577000														300			42		0	0	0.048971	0	0
PODXL2	50512	broad.mit.edu	37	3	127387409	127387409	+	Silent	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:127387409G>A	uc003ejq.2	+	4	1356	c.1332G>A	c.(1330-1332)caG>caA	p.Q444Q		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.	444					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						AGAAGGAGCAGCACCTTCTCA	0.687000														70			3		0	0	0.004672	0	0
GGT1	2678	broad.mit.edu	37	22	25023539	25023539	+	Silent	SNP	C	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:25023539C>G	uc003aan.1	+	11	1648	c.1161C>G	c.(1159-1161)gtC>gtG	p.V387V	GGT1_uc003aas.1_Silent_p.V387V|GGT1_uc003aat.1_Silent_p.V387V|GGT1_uc003aau.2_Silent_p.V387V|GGT1_uc003aav.2_Silent_p.V387V|GGT1_uc003aaw.2_Silent_p.V387V|GGT1_uc003aax.2_Silent_p.V387V|GGT1_uc003aay.1_Silent_p.V43V	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	387					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TGTCTGTCGTCGCAGAGGACG	0.657000														148			4		0	0	0.021553	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346906	89346906	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:89346906T>G	uc002fmx.1	-	8	6505	c.6044A>C	c.(6043-6045)tAc>tCc	p.Y2015S	ANKRD11_uc002fmy.1_Missense_Mutation_p.Y2015S|ANKRD11_uc002fnc.1_Missense_Mutation_p.Y2015S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.Y1972S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2015	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGGGGCGGGGTACGGCGCCTC	0.721000														66			6		0	0	0.093190	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117657	117657	+	RNA	SNP	G	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrGL000205.1:117657G>T	uc002kgk.4	+	0		c.1035G>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGGAAGGCACGCGAGTTCAGA	0.622000														74			14		4.36969e-10	4.82368e-10	0.105934	1	0
ZNF493	284443	broad.mit.edu	37	19	21606442	21606442	+	Silent	SNP	C	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:21606442C>T	uc002npw.3	+	3	1100	c.981C>T	c.(979-981)ggC>ggT	p.G327G	ZNF493_uc002npx.3_Silent_p.G199G|ZNF493_uc002npy.3_Silent_p.G199G|ZNF493_uc021urq.1_Silent_p.G199G	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AAGAATGTGGCAAAGCCTTTA	0.333000														314			24		0	0	0.091800	0	0
FAT4	79633	broad.mit.edu	37	4	126372829	126372829	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:126372829C>T	uc003ifj.4	+	8	10658	c.10658C>T	c.(10657-10659)cCt>cTt	p.P3553L	FAT4_uc011cgp.2_Missense_Mutation_p.P1851L|FAT4_uc003ifi.1_Missense_Mutation_p.P1031L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3553	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G3552C(1)		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						AGCACAGGTCCTGCCACCAGT	0.493000														673			181		0	0	0.048971	0	0
SVEP1	79987	broad.mit.edu	37	9	113205879	113205879	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:113205879C>A	uc010mtz.3	-	26	4922	c.4585G>T	c.(4585-4587)Gat>Tat	p.D1529Y	SVEP1_uc010mua.1_Missense_Mutation_p.D1529Y	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1529	Pentaxin.				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						AATTTCCCATCGATATAGACT	0.438000														166			23		2.41591e-17	2.7199e-17	0.099896	1	0
AK098438	0	broad.mit.edu	37	1	21753563	21753563	+	RNA	SNP	A	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:21753563A>G	uc001bep.1	-	1		c.28T>C								Homo sapiens cDNA FLJ25572 fis, clone JTH05111.																		GTCCTTTTTAATTCCTGCAAT	0.473000														484			6		0	0	0.047766	0	0
AJAP1	55966	broad.mit.edu	37	1	4772232	4772232	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:4772232C>A	uc001alm.1	+	1	683	c.302C>A	c.(301-303)gCc>gAc	p.A101D	AJAP1_uc001aln.3_Missense_Mutation_p.A101D	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	101					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GCCAGACGGGCCCACAGGCCC	0.736000														29			4		0.00909568	0.00954485	0.009096	1	0
ZNF79	7633	broad.mit.edu	37	9	130207140	130207140	+	Silent	SNP	A	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:130207140A>G	uc004bqw.4	+	4	1575	c.1161A>G	c.(1159-1161)aaA>aaG	p.K387K	ZNF79_uc011maf.2_Silent_p.K363K|ZNF79_uc011mag.2_Silent_p.K363K	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTGGGGAGAAACCCTACAAGT	0.532000														468			8		0	0	0.028581	0	0
CCNK	8812	broad.mit.edu	37	14	99968673	99968673	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:99968673G>A	uc001ygi.4	+	6	835	c.705G>A	c.(703-705)tgG>tgA	p.W235*		NM_001099402	NP_001092872	O75909	CCNK_HUMAN	Homo sapiens cyclin K (CCNK), mRNA.	235					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				GGAGATGGTGGGAGCAGTTTG	0.463000														153			5		0	0	0.014758	0	0
BC101079	0	broad.mit.edu	37	15	102292829	102292829	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr15:102292829C>G	uc010usj.2	+	3	476	c.417C>G	c.(415-417)caC>caG	p.H139Q	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.H139Q(1)									CGAGAAGACACTCGTGGAGGC	0.597000														150			4		0	0	0.058154	0	0
ZNF493	284443	broad.mit.edu	37	19	21606712	21606712	+	Silent	SNP	T	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:21606712T>C	uc002npw.3	+	3	1370	c.1251T>C	c.(1249-1251)tcT>tcC	p.S417S	ZNF493_uc002npx.3_Silent_p.S289S|ZNF493_uc002npy.3_Silent_p.S289S|ZNF493_uc021urq.1_Silent_p.S289S	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCTTCACACCTTA	0.348000														393			7		0	0	0.033300	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718972	108718972	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:108718972G>A	uc022cch.1	-	0	279	c.194C>T	c.(193-195)tCg>tTg	p.S65L	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.S65L	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	65					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TGAAAACAGCGAATCACAAGC	0.532000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		228			5		0	0	0.014758	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	G	G	rs10796418	by1000genomes	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:16946407T>G	uc010ocf.2	-	2		c.491A>C			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		AGCAATCTCCTCACTCAGCTG	0.672000														161			12		0	0	0.020292	0	0
OR4C6	219432	broad.mit.edu	37	11	55433006	55433006	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:55433006G>A	uc010rik.2	+	0	364	c.364G>A	c.(364-366)Gtg>Atg	p.V122M		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V122L(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGACCGCTACGTGGCCATCTG	0.547000														436			109		0	0	0.048971	0	0
FAM188B	84182	broad.mit.edu	37	7	30951843	30951843	+	Missense_Mutation	SNP	G	A	A	rs35804488	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:30951843G>A	uc003tbv.2	+	0	429	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	FAM188B_uc011kac.1_Missense_Mutation_p.V167I	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGGGCCATCGTCGCCACCGC	0.637000														807			11		0	0	0.093190	0	0
BC101079	0	broad.mit.edu	37	15	102292811	102292811	+	Silent	SNP	C	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr15:102292811C>A	uc010usj.2	+	3	458	c.399C>A	c.(397-399)cgC>cgA	p.R133R	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.R133R(1)									CCTGCACTCGCGTGGGAACGA	0.607000														188			5		3.86212e-05	4.18191e-05	0.069234	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357678	118357678	+	Splice_Site	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:118357678G>A	uc001lco.1	+	8	832	c.814_splice	c.e8+1	p.G272_splice	PNLIPRP1_uc001lcp.2_Splice_Site_p.G272_splice	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	272					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CATCTGGGCGGGTAAAGTCAT	0.498000														128			4		0	0	0.021553	0	0
CDC45	8318	broad.mit.edu	37	22	19492919	19492919	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:19492919C>T	uc011aha.2	+	10	913	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	CDC45_uc021wlg.1_Non-coding_Transcript|CDC45_uc011agz.1_Missense_Mutation_p.R242C|CDC45_uc002zpr.3_Missense_Mutation_p.R247C|CDC45_uc002zpt.3_Missense_Mutation_p.R201C	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	247					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TGTCCTGCAGCGCCACGTTTC	0.537000														208			15		0	0	0.043863	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190779	39190779	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:39190779T>C	uc002hvv.3	-	0	329	c.295A>G	c.(295-297)Agt>Ggt	p.S99G		NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	Homo sapiens keratin associated protein 1-3 (KRTAP1-3), mRNA.	109						extracellular region|keratin filament	structural constituent of epidermis	p.S99G(4)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACAGCTCCACTGCTGCCCTCC	0.652000														188			8		0	0	0.038147	0	0
ZMYND8	23613	broad.mit.edu	37	20	45839477	45839477	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:45839477C>T	uc010zxy.1	-	22	3737	c.3655G>A	c.(3655-3657)Gat>Aat	p.D1219N	ZMYND8_uc010ghq.1_Silent_p.P800P|ZMYND8_uc010ghr.1_Missense_Mutation_p.D1094N|ZMYND8_uc002xst.1_Missense_Mutation_p.D1046N|ZMYND8_uc002xsu.1_Missense_Mutation_p.D1065N|ZMYND8_uc002xsv.1_Missense_Mutation_p.D1092N|ZMYND8_uc002xsw.1_Missense_Mutation_p.D898N|ZMYND8_uc002xsx.1_Missense_Mutation_p.D870N|ZMYND8_uc002xsy.1_Missense_Mutation_p.D1121N|ZMYND8_uc002xsz.1_Missense_Mutation_p.D1083N|ZMYND8_uc002xta.1_Missense_Mutation_p.D1164N|ZMYND8_uc002xtb.1_Missense_Mutation_p.D1166N|ZMYND8_uc002xss.2_Missense_Mutation_p.D1164N|ZMYND8_uc010zxz.1_Missense_Mutation_p.D1032N|ZMYND8_uc002xtc.1_Missense_Mutation_p.D1138N|ZMYND8_uc002xtd.1_Missense_Mutation_p.D1113N|ZMYND8_uc002xte.1_Missense_Mutation_p.D1146N|ZMYND8_uc010zya.1_Missense_Mutation_p.D1192N|ZMYND8_uc002xtf.1_Missense_Mutation_p.D1212N|ZMYND8_uc002xsr.1_Missense_Mutation_p.D263N	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	1164							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GTGTTGTGATCGGAACGTGTC	0.547000														456			54		0	0	0.048971	0	0
ZNF860	344787	broad.mit.edu	37	3	32032046	32032046	+	Missense_Mutation	SNP	G	A	A	rs143925165	by1000genomes	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:32032046G>A	uc011axg.2	+	1	2024	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H	ZNF860_uc021wuv.1_Missense_Mutation_p.R492H	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCGTCACAATTCA	0.403000														627			17		0	0	0.028581	0	0
UPK3A	7380	broad.mit.edu	37	22	45683276	45683276	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:45683276G>A	uc003bfy.3	+	2	459	c.432G>A	c.(430-432)tgG>tgA	p.W144*	UPK3A_uc010gzy.3_Intron	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	144					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCTGCCTGTGGGATCCCAACT	0.617000														118			3		0	0	0.014758	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83307	83307	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrGL000219.1:83307G>T	uc022brb.1	-	3	360	c.47C>A	c.(46-48)gCt>gAt	p.A16D	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GGCCAACAAAGCCATTTTCCC	0.373000														173			8		9.70103e-10	1.06398e-09	0.069234	1	0
PXT1	222659	broad.mit.edu	37	6	36368246	36368246	+	Silent	SNP	A	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:36368246A>G	uc003omd.2	-	3	769	c.285T>C	c.(283-285)caT>caC	p.H95H		NM_152990	NP_694535	Q8NFP0	PXT1_HUMAN	Homo sapiens peroxisomal, testis specific 1 (PXT1), mRNA.	12						peroxisome											GAACCATCCTATGATCAATGT	0.507000														555			186		0	0	0.048971	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:49926533G>C	uc002pnn.1	-	0	166	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449	NP_848544	Q96A98	TIP39_HUMAN	Homo sapiens parathyroid hormone 2 (PTH2), mRNA.	22					neuropeptide signaling pathway	extracellular region		p.L22V(4)		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)		GGCACCACcagcagcagcagc	0.692000														140			7		0	0	0.029380	0	0
MUC4	4585	broad.mit.edu	37	3	195515435	195515435	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:195515435C>T	uc021xjp.1	-	1	3172	c.3016G>A	c.(3016-3018)Gcc>Acc	p.A1006T	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1008	Repeat.|Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.A1006T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.582000														24			4		0	0	0.014758	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152018	66152018	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:66152018A>G	uc001sso.3	-	1	926	c.505T>C	c.(505-507)Tct>Cct	p.S169P						Homo sapiens ribosomal protein SA pseudogene 52 (RPSAP52), non-coding RNA.																		ATAGGCACAGAGGGCACCTGC	0.522000														122			3		0	0	0.004672	0	0
UBB	7314	broad.mit.edu	37	17	16285491	16285491	+	Silent	SNP	C	T	T	rs16962973		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:16285491C>T	uc002gpx.3	+	1	408	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_uc010vwe.1_Intron|UBB_uc021tqs.1_Silent_p.T90T	NM_018955	NP_061828	P0CG47	UBB_HUMAN	Homo sapiens ubiquitin B (UBB), mRNA.	90	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.I89I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552000														516			7		0	0	0.029380	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19363332	19363332	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:19363332C>T	uc011kyn.2	-	3	1078	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CSGALNACT1_uc011kyo.2_Missense_Mutation_p.R5H|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Missense_Mutation_p.R5H|CSGALNACT1_uc003wzh.2_Non-coding_Transcript	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	5					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CAGCCCCCGGCGAACCATCAT	0.602000														428			37		0	0	0.092188	0	0
SBSN	374897	broad.mit.edu	37	19	36018569	36018569	+	Silent	SNP	T	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:36018569T>C	uc002oad.2	-	0	685	c.615A>G	c.(613-615)agA>agG	p.R205R	SBSN_uc002oae.2_Intron|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	200	Ala/Gly/His-rich.					extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGGCCAAATCTCCCAGCCT	0.632000														70			3		0	0	0.009096	0	0
CYB5R3	1727	broad.mit.edu	37	22	43032758	43032758	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:43032758G>A	uc003bcz.3	-	1	200	c.116C>T	c.(115-117)cCg>cTg	p.P39L	CYB5R3_uc011aps.2_Missense_Mutation_p.P72L|CYB5R3_uc021wqn.1_Missense_Mutation_p.P16L|CYB5R3_uc003bcy.3_Missense_Mutation_p.P16L|CYB5R3_uc003bcx.3_Missense_Mutation_p.P16L	NM_000398	NP_000389	P00387	NB5R3_HUMAN	Homo sapiens cytochrome b5 reductase 3 (CYB5R3), transcript variant 1, mRNA.	39					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	CTTGATGTCCGGGCTCTCGAG	0.617000														137			30		0	0	0.050027	0	0
SLC12A3	6559	broad.mit.edu	37	16	56924262	56924262	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:56924262G>A	uc002ekd.4	+	18	2391	c.2362G>A	c.(2362-2364)Gcg>Acg	p.A788T	SLC12A3_uc010ccm.3_Missense_Mutation_p.A788T|SLC12A3_uc010ccn.3_Missense_Mutation_p.A787T	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	788					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GATGATGCAGGCGCACAGTGA	0.458000														358			6		0	0	0.038147	0	0
PTX4	390667	broad.mit.edu	37	16	1536305	1536305	+	Missense_Mutation	SNP	C	T	T	rs139020235	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:1536305C>T	uc010uvf.2	-	2	1057	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	358	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TGCCACTGGCCGTCCAGCAGC	0.672000														194			6		0	0	0.021553	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103175414	103175414	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:103175414C>A	uc001phn.1	+	77	11512	c.11368C>A	c.(11368-11370)Cat>Aat	p.H3790N	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.H3783N	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3783	AAA 6 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAAGAACTTACATCTTGTGGT	0.398000														381			17		7.45023e-12	8.27803e-12	0.055883	1	0
ZNF92	168374	broad.mit.edu	37	7	64863789	64863789	+	Silent	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:64863789G>A	uc003ttz.3	+	3	905	c.762G>A	c.(760-762)gaG>gaA	p.E254E	ZNF92_uc003tua.3_Silent_p.E185E|ZNF92_uc010kzu.3_Silent_p.E222E|ZNF92_uc003tub.3_Silent_p.E178E|ZNF92_uc022afd.1_5'Flank	NM_152626	NP_009070	Q03936	ZNF92_HUMAN	Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA.	254						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				ATACTGGAGAGAAACCCTACA	0.353000														548			7		0	0	0.105934	0	0
ZNF142	7701	broad.mit.edu	37	2	219503301	219503301	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:219503301G>A	uc002vin.3	-	9	5261	c.4825C>T	c.(4825-4827)Cgc>Tgc	p.R1609C	ZNF142_uc002vil.3_Missense_Mutation_p.R1570C|ZNF142_uc010fvt.3_Missense_Mutation_p.R1446C|ZNF142_uc002vim.3_Missense_Mutation_p.R1446C	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCATGATGGCGCAGGCCAGCA	0.612000														273			29		0	0	0.041601	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:207025366G>A	uc002vbg.1	+	2	247	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Silent_p.P45P|EEF1B2_uc002vbh.1_Silent_p.P45P|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(10)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000														663			8		0	0	0.047766	0	0
MED16	10025	broad.mit.edu	37	19	879935	879935	+	Splice_Site	SNP	A	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:879935A>G	uc002lqd.1	-	8	1504	c.1353_splice	c.e8+1	p.K451_splice	MED16_uc010drw.2_Splice_Site_p.K276_splice|MED16_uc002lqe.3_Splice_Site_p.K440_splice|MED16_uc002lqf.3_Splice_Site_p.K440_splice|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Splice_Site_p.K440_splice|MED16_uc010xfx.1_Splice_Site_p.K296_splice|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	451					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGCTCACCTTCCCGTG	0.667000														68			3		0	0	0.014758	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105360959	105360959	+	Missense_Mutation	SNP	C	T	T	rs138578884		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:105360959C>T	uc003ylx.1	+	1	228	c.179C>T	c.(178-180)gCg>gTg	p.A60V		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	60	Poly-Ala.				osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TCAATCATAGCGGCCGCTGCC	0.498000														537			205		0	0	0.048971	0	0
UBB	7314	broad.mit.edu	37	17	16285497	16285497	+	Silent	SNP	A	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:16285497A>G	uc002gpx.3	+	1	414	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_uc010vwe.1_Intron|UBB_uc021tqs.1_Silent_p.E92E	NM_018955	NP_061828	P0CG47	UBB_HUMAN	Homo sapiens ubiquitin B (UBB), mRNA.	92	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.E92E(4)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557000														510			6		0	0	0.047766	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163525	32163525	+	RNA	SNP	G	A	A	rs116644637	by1000genomes	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:32163525G>A	uc002ecx.3	-	1		c.246C>T								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		TGCCAGTCACGGTGCCTTCTC	0.567000														287			7		0	0	0.038147	0	0
NCOA6	23054	broad.mit.edu	37	20	33345723	33345723	+	Silent	SNP	C	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:33345723C>T	uc002xav.3	-	7	3399	c.828G>A	c.(826-828)caG>caA	p.Q276Q	NCOA6_uc002xaw.3_Silent_p.Q276Q|NCOA6_uc021wcd.1_Silent_p.Q276Q|NCOA6_uc021wce.1_Silent_p.Q276Q|NCOA6_uc021wcf.1_Silent_p.Q276Q|NCOA6_uc010gew.1_Silent_p.Q233Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	276	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|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.Q275Q(1)		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						gctgttgttgctgctgctgct	0.537000														208			5		0	0	0.021553	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415742	19415742	+	RNA	SNP	T	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr13:19415742T>C	uc010tcj.1	-	0		c.30368A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GCTGTTTTCCTAATCTTTCTT	0.338000														315			7		0	0	0.047766	0	0
MUC4	4585	broad.mit.edu	37	3	195505772	195505772	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:195505772C>G	uc021xjp.1	-	1	12835	c.12679G>C	c.(12679-12681)Gtc>Ctc	p.V4227L	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	984					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.V4227L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGCTGGTGACAGGAAGAGGG	0.582000														89			3		0	0	0.047766	0	0
NBPF10	100132406	broad.mit.edu	37	1	145323695	145323695	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:145323695C>T	uc021oul.1	+	26	3567	c.3532C>T	c.(3532-3534)Cca>Tca	p.P1178S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	1178										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCAAGACCCACCATGCCCCAG	0.453000														700			12		0	0	0.105934	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311414	311414	+	RNA	SNP	T	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrGL000192.1:311414T>C	uc010yij.1	-	6		c.955A>G			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTATTTCTGTACAGTGTTGG	0.532000														360			6		0	0	0.021553	0	0
PSG9	5678	broad.mit.edu	37	19	43766196	43766196	+	Silent	SNP	G	A	A	rs150952802		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:43766196G>A	uc002owd.4	-	2	624	c.525C>T	c.(523-525)gaC>gaT	p.D175D	PSG9_uc002owe.4_Silent_p.D175D|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Silent_p.D175D	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	175	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTAGCTTGCGTCCAGAGTCT	0.532000														918			11		0	0	0.004672	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415641	19415641	+	RNA	SNP	A	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr13:19415641A>T	uc010tcj.1	-	0		c.30469T>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		aaaaaaaaaaaaacccaaaca	0.418000														126			9		0	0	0.069234	0	0
TMEM18	129787	broad.mit.edu	37	2	669842	669842	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:669842G>A	uc002qwl.3	-	3	336	c.242C>T	c.(241-243)tCg>tTg	p.S81L	TMEM18_uc002qwk.3_Non-coding_Transcript	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	Homo sapiens transmembrane protein 18 (TMEM18), mRNA.	81					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CTGGTATTTCGAAAATAATCT	0.368000														143			21		0	0	0.049695	0	0
TRPM4	54795	broad.mit.edu	37	19	49713525	49713525	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:49713525G>A	uc002pmw.3	+	20	3299	c.3191G>A	c.(3190-3192)cGc>cAc	p.R1064H	TRPM4_uc010emu.3_Missense_Mutation_p.R919H|TRPM4_uc010yak.2_Missense_Mutation_p.R528H|TRPM4_uc002pmx.3_Missense_Mutation_p.R890H|TRPM4_uc010emv.3_Missense_Mutation_p.R949H|TRPM4_uc010yal.2_Missense_Mutation_p.R710H|TRPM4_uc002pmy.3_Missense_Mutation_p.R406H	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	1064					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CAGCGTTACCGCCTCATCCGG	0.607000														425			133		0	0	0.048971	0	0
BRPF3	27154	broad.mit.edu	37	6	36182091	36182091	+	Missense_Mutation	SNP	C	T	T	rs148223802	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:36182091C>T	uc003olv.4	+	7	3141	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W	BRPF3_uc010jwb.3_Intron|BRPF3_uc011dtj.2_Intron|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Intron	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	973					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding	p.R973W(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCGCCACTCCCGGAAGCGGCC	0.617000														251			36		0	0	0.104719	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000														47			3		0	0	0.004672	0	0
VPS13B	157680	broad.mit.edu	37	8	100791108	100791108	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:100791108T>C	uc003yiv.3	+	41	7814	c.7703T>C	c.(7702-7704)gTg>gCg	p.V2568A	VPS13B_uc003yiw.3_Missense_Mutation_p.V2543A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2568					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAAGTGTGGTGAAACCCTTC	0.448000														665			10		0	0	0.093190	0	0
LOC442459	442459	broad.mit.edu	37	X	98974894	98974894	+	RNA	SNP	T	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:98974894T>A	uc011mrd.1	-	7		c.1449A>T								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		GTCACCTGAATTTTCTGGTCA	0.478000														99			44		0	0	0.042209	0	0
LOC100286793	100286793	broad.mit.edu	37	1	143744418	143744418	+	RNA	SNP	C	T	T	rs71661951		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:143744418C>T	uc001ejp.3	-	0		c.170G>A			LOC100286793_uc001ejr.4_Non-coding_Transcript|LOC100286793_uc009whx.2_Non-coding_Transcript|LOC100286793_uc009why.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC100286793 (LOC100286793), non-coding RNA.																		CAAGTGGTTTCGGAAGTGATC	0.567000														42			4		0	0	0.047766	0	0
ZNF727	442319	broad.mit.edu	37	7	63538638	63538638	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:63538638G>C	uc011kdm.2	+	3	1390	c.1211G>C	c.(1210-1212)aGc>aCc	p.S404T		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TGTGGCAAAAGCTTTACCTGC	0.388000														136			3		0	0	0.009096	0	0
CTAGE11P	647288	broad.mit.edu	37	13	75814354	75814354	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr13:75814354C>G	uc010ths.2	-	0	164	c.123G>C	c.(121-123)tgG>tgC	p.W41C						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		CCACCAGTTCCCATGGAAAAC	0.488000														234			5		0	0	0.093190	0	0
SBSN	374897	broad.mit.edu	37	19	36018407	36018407	+	Silent	SNP	T	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:36018407T>C	uc002oad.2	-	0	847	c.777A>G	c.(775-777)agA>agG	p.R259R	SBSN_uc002oae.2_Intron|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	132						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGGCCAAATCTCCCTGCCT	0.627000														60			12		0	0	0.028581	0	0
SULT1C2	6819	broad.mit.edu	37	2	108917367	108917367	+	Silent	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:108917367G>A	uc002tdy.3	+	3	804	c.351G>A	c.(349-351)ccG>ccA	p.P117P	SULT1C2_uc010ywp.1_Silent_p.P32P|SULT1C2_uc010ywq.2_Silent_p.P131P|SULT1C2_uc002tdx.3_Silent_p.P128P	NM_001056	NP_001047	O00338	ST1C2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA.	117					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGCTGCCACCGTCTTTCTGGG	0.488000														512			118		0	0	0.048971	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	A	A	rs28392876	by1000genomes	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:16946438G>A	uc010ocf.2	-	2		c.460C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GCCTTCCGCCGGGCCAGCAGC	0.672000														145			8		0	0	0.047766	0	0
F10	2159	broad.mit.edu	37	13	113803461	113803461	+	Missense_Mutation	SNP	G	A	A	rs143715673		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr13:113803461G>A	uc001vsx.3	+	7	1154	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	F10_uc001vsy.3_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	366	Peptidase S1.		R -> C (in FA10D; San Antonio).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTTCGGGCGCACCCACGAG	0.647000														220			5		0	0	0.014758	0	0
LRRC7	57554	broad.mit.edu	37	1	70486728	70486728	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:70486728G>A	uc001dep.3	+	13	1377	c.1347G>A	c.(1345-1347)tgG>tgA	p.W449*	LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	449						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTACACTGTGGGAAGAGCAGA	0.348000														229			4		0	0	0.014758	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:114270000G>A	uc003vhb.3	+	4	911	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.Q204Q|FOXP2_uc003vha.3_Silent_p.Q87Q|FOXP2_uc011kmv.2_Silent_p.Q179Q|FOXP2_uc011kmu.2_Silent_p.Q196Q|FOXP2_uc010ljz.2_Silent_p.Q87Q|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_Silent_p.Q179Q|FOXP2_uc003vgx.2_Silent_p.Q179Q|FOXP2_uc003vhc.3_Silent_p.Q204Q|FOXP2_uc003vhd.3_Silent_p.Q179Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000														260			5		0	0	0.038147	0	0
ZHX3	23051	broad.mit.edu	37	20	39830760	39830760	+	Missense_Mutation	SNP	G	A	A	rs148495510		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:39830760G>A	uc010ggg.1	-	0	2947	c.2797C>T	c.(2797-2799)Cgt>Tgt	p.R933C	ZHX3_uc002xjr.1_Intron|ZHX3_uc002xjs.1_Missense_Mutation_p.R933C|ZHX3_uc002xjt.1_Missense_Mutation_p.R933C|ZHX3_uc002xju.1_Missense_Mutation_p.R933C	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	933					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R933H(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TCAGGGACACGGGGCTCCCAC	0.597000														399			47		0	0	0.048971	0	0
ZNF98	148198	broad.mit.edu	37	19	22574657	22574657	+	Silent	SNP	T	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:22574657T>C	uc002nqt.2	-	3	1502	c.1380A>G	c.(1378-1380)aaA>aaG	p.K460K		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ATTTGTAGGGTTTCTCTCCAG	0.373000														235			7		0	0	0.105934	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:207025358A>G	uc002vbg.1	+	2	239	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Missense_Mutation_p.S43G|EEF1B2_uc002vbh.1_Missense_Mutation_p.S43G|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(8)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000														664			9		0	0	0.080935	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627428	43627428	+	Missense_Mutation	SNP	G	A	A	rs11261835	by1000genomes	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:43627428G>A	uc011lrb.2	-	3	1288	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	420						integral to membrane		p.P420L(2)		breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GTGCAGAGAGGGGAGGCCCCA	0.498000														524			7		0	0	0.021553	0	0
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:100349878C>T	uc003uwj.3	+	13	2315	c.2150C>T	c.(2149-2151)cCc>cTc	p.P717L	ZAN_uc003uwk.3_Missense_Mutation_p.P717L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	717	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.P717L(3)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACCCACCATCCCC	0.507000														423			7		0	0	0.047766	0	0
DAGLB	221955	broad.mit.edu	37	7	6465643	6465643	+	Silent	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:6465643G>A	uc003sqa.3	-	6	1202	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	DAGLB_uc011jwt.2_Silent_p.F158F|DAGLB_uc011jwu.2_Silent_p.F215F|DAGLB_uc003sqb.3_Silent_p.F63F|DAGLB_uc003sqc.3_Silent_p.F63F|DAGLB_uc011jwv.2_Non-coding_Transcript|DAGLB_uc003sqd.4_Silent_p.F303F|DAGLB_uc011jww.1_Non-coding_Transcript	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	344					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TGACGTGGATGAAGTCCCTGT	0.532000														303			74		0	0	0.048971	0	0
LRP1B	53353	broad.mit.edu	37	2	141771238	141771238	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:141771238T>A	uc002tvj.1	-	13	3239	c.2267A>T	c.(2266-2268)tAt>tTt	p.Y756F	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	756					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCATTCATATAATCAGTCCA	0.388000										TSP Lung(27;0.18)				544			129		0	0	0.048971	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:20414379G>A	uc003zoe.2	-	4	724	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_uc011lne.1_Silent_p.S123S|MLLT3_uc011lnf.1_Silent_p.S152S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(8)		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)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL									223			10		0	0	0.080935	0	0
LOC283922	283922	broad.mit.edu	37	16	74372644	74372644	+	Silent	SNP	A	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:74372644A>G	uc002fcr.2	-	8	1661	c.315T>C	c.(313-315)ccT>ccC	p.P105P	LOC283922_uc010vms.1_Non-coding_Transcript					Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit pseudogene (LOC283922), non-coding RNA.																		TACCCTTGTCAGGGGGAACAA	0.443000														279			10		0	0	0.105934	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18753360	18753360	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:18753360G>A	uc003zne.4	+	15	2223	c.2071G>A	c.(2071-2073)Gtc>Atc	p.V691I		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	691	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GACCAGAGACGTCTTCTGCAG	0.532000														135			4		0	0	0.009096	0	0
TP53	7157	broad.mit.edu	37	17	7577520	7577520	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:7577520A>C	uc002gim.2	-	6	955	c.761T>G	c.(760-762)aTc>aGc	p.I254S	TP53_uc002gig.1_Missense_Mutation_p.I254S|TP53_uc002gih.3_Missense_Mutation_p.I254S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I122S|TP53_uc010cnf.1_Missense_Mutation_p.I122S|TP53_uc002gii.1_Missense_Mutation_p.I122S|TP53_uc010cni.1_Missense_Mutation_p.I254S|TP53_uc010cnh.1_Missense_Mutation_p.I254S|TP53_uc002gij.2_Missense_Mutation_p.I254S|DL476366_uc021tpf.1_Non-coding_Transcript|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.I161S|TP53_uc002gio.2_Missense_Mutation_p.I122S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	254	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I254S(12)|p.L252_I254delLTI(8)|p.0?(8)|p.I254F(7)|p.I254T(6)|p.I254N(6)|p.I254D(6)|p.I254V(5)|p.T253S(5)|p.I254fs*10(5)|p.T253_I255del(4)|p.I254del(4)|p.I251_T253delILT(4)|p.T253I(3)|p.T253A(3)|p.T253fs*11(3)|p.T253P(3)|p.T253N(2)|p.T253T(2)|p.T253fs*91(2)|p.I254fs*7(2)|p.I254_T256del(2)|p.R249_T256delRPILTIIT(2)|p.L252_T253delLT(1)|p.P250_T253delPILT(1)|p.T253fs*92(1)|p.I254I(1)|p.?(1)|p.T253del(1)|p.I254fs*91(1)|p.T253fs*?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGTGTGATGATGGTGAGGAT	0.587000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				231			68		0	0	0.048971	0	0
C4orf22	255119	broad.mit.edu	37	4	81791173	81791173	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:81791173T>A	uc010ijp.3	+	4	460	c.411T>A	c.(409-411)aaT>aaA	p.N137K	C4orf22_uc003hmf.3_Missense_Mutation_p.N120K	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	120										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GTGACAGAAATTCTCATGGGC	0.363000														400			83		0	0	0.048971	0	0
CFTR	1080	broad.mit.edu	37	7	117250657	117250657	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:117250657G>A	uc003vjd.3	+	18	3205	c.3073G>A	c.(3073-3075)Gct>Act	p.A1025T	CFTR_uc011knq.2_Missense_Mutation_p.A431T	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1025	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AGTGATAGTGGCTTTTATTAT	0.383000									Cystic Fibrosis					337			35		0	0	0.059317	0	0
AEBP1	165	broad.mit.edu	37	7	44146353	44146353	+	Silent	SNP	A	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:44146353A>G	uc003tkb.3	+	1	767	c.462A>G	c.(460-462)aaA>aaG	p.K154K		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	154	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGAAGCCCAAAGAGAAGCCAC	0.627000														140			4		0	0	0.009096	0	0
AGBL2	79841	broad.mit.edu	37	11	47684620	47684620	+	Silent	SNP	T	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:47684620T>A	uc001ngg.3	-	17	2795	c.2493A>T	c.(2491-2493)tcA>tcT	p.S831S	AGBL2_uc001ngf.3_Non-coding_Transcript	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	831					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GGGTGGCCATTGATGGGTCCA	0.353000														831			69		0	0	0.048971	0	0
UBN1	29855	broad.mit.edu	37	16	4920917	4920917	+	Silent	SNP	A	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:4920917A>G	uc002cyb.3	+	10	1842	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K	UBN1_uc010uxw.2_Silent_p.K501K|UBN1_uc002cyc.3_Silent_p.K501K	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	501					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.K501K(2)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATGAAGAAAAAGGGGGCAGGA	0.522000														306			5		0	0	0.021553	0	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:12501446T>C	uc010dyt.3	-	3	1970	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000														445			8		0	0	0.058154	0	0
AMPD3	272	broad.mit.edu	37	11	10518392	10518392	+	Silent	SNP	C	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:10518392C>T	uc001min.1	+	9	1836	c.1491C>T	c.(1489-1491)aaC>aaT	p.N497N	AMPD3_uc010rbz.1_Silent_p.N329N|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Silent_p.N488N|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Silent_p.N495N|AMPD3_uc009yfy.2_Silent_p.N488N	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	488					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGCTGCCAAACTTTGGGAAGA	0.502000														508			40		0	0	0.098360	0	0
GOLM1	51280	broad.mit.edu	37	9	88661456	88661456	+	Silent	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:88661456G>A	uc004aol.3	-	4	602	c.396C>T	c.(394-396)ggC>ggT	p.G132G	GOLM1_uc010mqd.1_Non-coding_Transcript|GOLM1_uc004aom.3_Silent_p.G132G	NM_016548	NP_808800	Q8NBJ4	GOLM1_HUMAN	Homo sapiens golgi membrane protein 1 (GOLM1), transcript variant 1, mRNA.	132						Golgi apparatus|integral to plasma membrane		p.G132A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						GCTGCAGCCTGCCGTAATTCC	0.532000														122			4		0	0	0.009096	0	0
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:31237922G>C	uc001rjt.1	+	4	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	167	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding	p.R167T(18)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612000										Multiple Myeloma(12;0.14)				89			9		0	0	0.020292	0	0
SMG1	23049	broad.mit.edu	37	16	18882786	18882786	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:18882786C>A	uc002dfm.3	-	15	2565	c.2202G>T	c.(2200-2202)tgG>tgT	p.W734C	SMG1_uc010bwb.3_Missense_Mutation_p.W594C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	734	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E733K(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTTCCAAAGCCCAAGTCATTA	0.338000														137			6		2.0095e-06	2.18984e-06	0.029380	1	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:53856730G>A	uc010ydv.1	+	3	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_uc010ydw.1_Silent_p.K934K	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(6)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000														228			5		0	0	0.028581	0	0
KCNQ2	3785	broad.mit.edu	37	20	62044927	62044927	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:62044927G>A	uc002yey.1	-	14	1816	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	KCNQ2_uc002yez.1_Missense_Mutation_p.R516W|KCNQ2_uc002yfa.1_Missense_Mutation_p.R529W|KCNQ2_uc002yfb.1_Missense_Mutation_p.R519W	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	547					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	ACCAGGAACCGCATGACACTG	0.657000														568			80		0	0	0.048971	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:29628300G>A	uc010ztl.1	+	2	244	c.212G>A	c.(211-213)aGt>aAt	p.S71N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23N					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000														433			12		0	0	0.050027	0	0
HEPH	9843	broad.mit.edu	37	X	65415012	65415012	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:65415012G>A	uc011moz.2	+	8	1741	c.1604G>A	c.(1603-1605)aGc>aAc	p.S535N	HEPH_uc004dwn.3_Missense_Mutation_p.S484N|HEPH_uc004dwo.3_Missense_Mutation_p.S214N|HEPH_uc010nkr.3_Missense_Mutation_p.S484N|HEPH_uc011mpa.2_Missense_Mutation_p.S484N	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	481	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGCCATTCAGCATGCAGCCC	0.522000														128			4		0	0	0.009096	0	0
NUDT14	256281	broad.mit.edu	37	14	105639421	105639421	+	Silent	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:105639421G>A	uc010tyn.2	-	4	720	c.606C>T	c.(604-606)ctC>ctT	p.L202L	NUDT14_uc001yqi.3_Non-coding_Transcript	NM_177533	NP_803877	O95848	NUD14_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 14 (NUDT14), mRNA.	202	Nudix hydrolase.					cytoplasm	UDP-sugar diphosphatase activity|metal ion binding|protein binding			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGATGACGCCGAGGGTCTTGG	0.632000										HNSCC(42;0.11)				262			32		0	0	0.069456	0	0
POLRMT	5442	broad.mit.edu	37	19	620015	620015	+	Silent	SNP	G	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:620015G>C	uc002lpf.1	-	11	2885	c.2829C>G	c.(2827-2829)tcC>tcG	p.S943S		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	943	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGTTGACGGAGGCGGCGC	0.697000														31			3		0	0	0.009096	0	0
PNLIP	5406	broad.mit.edu	37	10	118315573	118315573	+	Silent	SNP	C	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:118315573C>T	uc001lcm.3	+	8	916	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	291					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	p.S290T(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CTGATAGCATCGTCAACCCTG	0.433000														629			75		0	0	0.048971	0	0
LRP2	4036	broad.mit.edu	37	2	170092528	170092528	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:170092528C>T	uc002ues.3	-	28	4955	c.4742G>A	c.(4741-4743)cGa>cAa	p.R1581Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1581					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATGCTGGCTCGCTCGATGCG	0.512000														183			18		0	0	0.033300	0	0
HSDL1	83693	broad.mit.edu	37	16	84164829	84164829	+	Missense_Mutation	SNP	G	A	A	rs143907842		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:84164829G>A	uc002fhk.2	-	2	282	c.98C>T	c.(97-99)aCg>aTg	p.T33M	HSDL1_uc010vnv.1_Missense_Mutation_p.T33M	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	Homo sapiens hydroxysteroid dehydrogenase like 1 (HSDL1), transcript variant 1, mRNA.	33	Required for mitochondria translocation.					mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						TTTTCTGGCCGTATACCAGGC	0.493000														662			8		0	0	0.038147	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237387	140237387	+	Missense_Mutation	SNP	T	G	G	rs251364	by1000genomes	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr5:140237387T>G	uc003lhx.2	+	0	1754	c.1754T>G	c.(1753-1755)gTt>gGt	p.V585G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Missense_Mutation_p.V585G	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	599					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTCGGTGGTTGCGGGTCAC	0.662000														257			8		0	0	0.038147	0	0
WASL	8976	broad.mit.edu	37	7	123349222	123349222	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:123349222G>A	uc003vkz.3	-	1	501	c.173C>T	c.(172-174)tCa>tTa	p.S58L		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	58	WH1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCACTTCTTTGACCACATACA	0.338000														387			38		0	0	0.039052	0	0
DOCK3	1795	broad.mit.edu	37	3	51370621	51370621	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:51370621G>A	uc011bds.2	+	34	3571	c.3548G>A	c.(3547-3549)cGc>cAc	p.R1183H		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1183	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAAACATGGCGCGAGACCGGC	0.532000														708			65		0	0	0.048971	0	0
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:23544867T>C	uc002nre.3	-	3	1027	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_uc010xrj.2_Missense_Mutation_p.H273R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	305						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413000														706			12		0	0	0.024245	0	0
X97876	0	broad.mit.edu	37	9	66499654	66499654	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:66499654G>A	uc004aee.1	+	0	464	c.464G>A	c.(463-465)cGt>cAt	p.R155H	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		CCAGGGCTGCGTACCACCAGC	0.587000														71			3		0	0	0.058154	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	Missense_Mutation	SNP	C	T	T	rs141013110		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:26422353C>T	uc011dkl.1	+	0	37	c.7C>T	c.(7-9)Cca>Tca	p.P3S	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.									p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000														717			25		0	0	0.030593	0	0
MST1P9	11223	broad.mit.edu	37	1	17085791	17085791	+	Missense_Mutation	SNP	G	A	A	rs2297532	by1000genomes	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:17085791G>A	uc010ock.2	-	7	1030	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TCTGTACAACGCCGGATCTGG	0.692000														120			6		0	0	0.024245	0	0
ABCA11P	79963	broad.mit.edu	37	4	435653	435653	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:435653C>T	uc003gaf.4	-	2	2925	c.2699G>A	c.(2698-2700)gGa>gAa	p.G900E	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.G868E|ABCA11P_uc010ibe.3_Missense_Mutation_p.G856E	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		GCCACATTCTCCACATGTGTA	0.418000														355			7		0	0	0.058154	0	0
AEBP1	165	broad.mit.edu	37	7	44146365	44146365	+	Silent	SNP	C	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:44146365C>T	uc003tkb.3	+	1	779	c.474C>T	c.(472-474)ccC>ccT	p.P158P		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	158	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGAAGCCACCCAAGGCCACCA	0.647000														125			4		0	0	0.009096	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	T	T	rs121913529		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				104			24		0	0	0.030593	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:6536011_6536013delCTC	uc001anp.1	-	3	856_858	c.358_360delGAG	c.(358-360)gagdel	p.E120del	PLEKHG5_uc001ann.1_In_Frame_Del_p.E80del|PLEKHG5_uc001ano.1_In_Frame_Del_p.E99del|PLEKHG5_uc001anq.1_In_Frame_Del_p.E120del|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_In_Frame_Del_p.E112del|PLEKHG5_uc001ank.1_In_Frame_Del_p.E43del|PLEKHG5_uc009vmb.1_In_Frame_Del_p.E43del|PLEKHG5_uc001anl.1_In_Frame_Del_p.E43del|PLEKHG5_uc001anm.1_In_Frame_Del_p.E43del	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	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)	---	691	---	---	31	---					
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:7838212_7838214delTCA	uc001aol.3	+	3	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del		NM_004781	NP_004772	Q15836	VAMP3_HUMAN	Homo sapiens vesicle-associated membrane protein 3 (cellubrevin) (VAMP3), mRNA.	94					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													---	1499	---	---	18	---					
TNFRSF9	3604	broad.mit.edu	37	1	7980912	7980914	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:7980912_7980914delCTT	uc001aot.3	-	8	1010_1012	c.749_751delAAG	c.(748-753)gaagga>gga	p.E250del		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	250	Interaction with LRR-1.		E -> G (in a colorectal cancer sample; somatic mutation).		induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.E250G(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|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;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TCACATCCTCCTTCTTCTTCTTC	0.379													---	967	---	---	7	---					
CLSTN1	22883	broad.mit.edu	37	1	9790640	9790642	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:9790640_9790642delCCT	uc001aqh.3	-	18	3629_3631	c.2870_2872delAGG	c.(2869-2874)gagggg>ggg	p.E957del	CLSTN1_uc001aqi.3_In_Frame_Del_p.E947del|CLSTN1_uc010oag.2_In_Frame_Del_p.E938del|CLSTN1_uc001aqf.3_In_Frame_Del_p.E221del	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	957	Glu-rich (highly acidic).				homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGCTCCCCCTCCTCCTCCTC	0.645													---	473	---	---	8	---					
DHRS3	9249	broad.mit.edu	37	1	12632790	12632792	+	In_Frame_Del	DEL	GGA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:12632790_12632792delGGA	uc001auc.3	-	4	1255_1257	c.788_790delTCC	c.(787-792)ctccca>cca	p.L263del	DHRS3_uc001aub.3_In_Frame_Del_p.L178del	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	263					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	ATTGTCCATGGGAGGAGGAGGAG	0.552													---	130	---	---	8	---					
AADACL3	126767	broad.mit.edu	37	1	12785492	12785493	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:12785492_12785493insT	uc009vnn.1	+	3	815_816	c.582_583insT	c.(580-585)tactgtfs	p.Y194fs	AADACL3_uc001aug.1_Frame_Shift_Ins_p.Y124fs	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	194							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCTGCTACTGTTTTTTTCA	0.455													---	1197	---	---	9	---					
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:22838561_22838563delAAG	uc001bft.2	+	11	2906_2908	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_uc001bfu.2_In_Frame_Del_p.K803del|ZBTB40_uc009vqi.1_In_Frame_Del_p.K691del|ZBTB40_uc001bfv.1_In_Frame_Del_p.K432del	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	803					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517													---	476	---	---	23	---					
MYOM3	127294	broad.mit.edu	37	1	24394742	24394742	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:24394742delT	uc001bin.4	-	25	3429	c.3266delA	c.(3265-3267)aacfs	p.N1089fs	MYOM3_uc001bil.4_5'Flank|MYOM3_uc001bim.4_Frame_Shift_Del_p.N746fs|MYOM3_uc001bio.3_Frame_Shift_Del_p.N1089fs	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1089										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGTAATCTGGTTTTTGGCTTT	0.602													---	1997	---	---	8	---					
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:26349533_26349535delCCT	uc001blf.3	+	0	1263_1265	c.396_398delCCT	c.(394-399)tgcctc>tgc	p.L137del		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	137					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGCCTGCCTCCTCCTCCTC	0.606													---	407	---	---	10	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:28800272_28800273insC	uc001bpy.3	+	5	1295_1296	c.1060_1061insC	c.(1060-1062)tccfs	p.S354fs	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Frame_Shift_Ins_p.S344fs|PHACTR4_uc001bpx.3_Frame_Shift_Ins_p.S328fs	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													---	1589	---	---	24	---					
DLGAP3	58512	broad.mit.edu	37	1	35365852	35365852	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:35365852delC	uc001byc.3	-	1	1130	c.1130delG	c.(1129-1131)ggtfs	p.G377fs		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	377					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGTGGGGTAACCCCCCCAGTC	0.602													---	852	---	---	9	---					
ZMYM6	9204	broad.mit.edu	37	1	35485090	35485090	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:35485090delT	uc001byh.3	-	3	520	c.292delA	c.(292-294)atgfs	p.M98fs	ZMYM6_uc001byf.1_Frame_Shift_Del_p.M98fs|ZMYM6_uc010oht.2_Frame_Shift_Del_p.M1fs|ZMYM6_uc009vup.3_Intron|ZMYM6_uc009vuq.1_Frame_Shift_Del_p.M98fs|ZMYM6_uc009vur.1_Intron|ZMYM6_uc001byi.2_Frame_Shift_Del_p.M98fs|ZMYM6_uc001byj.2_Frame_Shift_Del_p.M98fs|ZMYM6_uc001byk.2_Frame_Shift_Del_p.M98fs	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	98					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTATAAAGCATTTTTTTACAA	0.453													---	551	---	---	7	---					
MACF1	23499	broad.mit.edu	37	1	39788668	39788670	+	In_Frame_Del	DEL	GGA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:39788668_39788670delGGA	uc021olt.1	+	31	4291_4293	c.4239_4241delGGA	c.(4237-4242)ctggag>ctg	p.E1417del	MACF1_uc021ols.1_In_Frame_Del_p.E1417del|MACF1_uc001cdc.2_In_Frame_Del_p.E1417del|MACF1_uc001cda.1_In_Frame_Del_p.E1325del|MACF1_uc009vvq.1_In_Frame_Del_p.E474del|MACF1_uc001cdb.1_In_Frame_Del_p.E504del	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1417	Poly-Glu.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCGGCGTCTGGAGGAGGAGGAG	0.493													---	848	---	---	9	---					
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:40713708_40713709delTC	uc001cfe.2	+	0	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs		NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	Homo sapiens transmembrane and coiled-coil domains 2 (TMCO2), mRNA.	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													---	1388	---	---	18	---					
CYP4Z2P	163720	broad.mit.edu	37	1	47325313	47325315	+	RNA	DEL	GTT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:47325313_47325315delGTT	uc001cqo.1	-	8		c.1253_1255delAAC								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		AAAAAAAAAAGTTGTTTTAAGAC	0.409													---	382	---	---	11	---					
TMEM48	55706	broad.mit.edu	37	1	54298190	54298192	+	In_Frame_Del	DEL	TTA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:54298190_54298192delTTA	uc001cvs.3	-	2	542_544	c.251_253delTAA	c.(250-255)ataagt>agt	p.I84del	TMEM48_uc010onu.2_In_Frame_Del_p.I84del|TMEM48_uc001cvt.3_5'UTR|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	84					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						TTGAAAATACTTATTATTATTAT	0.305													---	407	---	---	13	---					
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74957824	74957826	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:74957824_74957826delCTT	uc001dge.2	+	24	2595_2597	c.2528_2530delCTT	c.(2527-2532)ccttct>cct	p.S847del	FPGT-TNNI3K_uc001dgf.2_In_Frame_Del_p.S746del	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	746						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TCTCTCTCACCTTCTTCTTCTTC	0.473													---	1479	---	---	12	---					
LPAR3	23566	broad.mit.edu	37	1	85331764	85331764	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:85331764delA	uc001dkl.2	-	0	79	c.40delT	c.(40-42)tatfs	p.Y14fs	LPAR3_uc009wcj.1_Frame_Shift_Del_p.Y14fs	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	14					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CTCCTATTATAAAAAAAGTCC	0.338													---	776	---	---	7	---					
GBP3	2635	broad.mit.edu	37	1	89473441	89473442	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:89473441_89473442insT	uc001dmt.3	-	10	1958_1959	c.1753_1754insA	c.(1753-1755)accfs	p.T585fs	GBP3_uc010oss.2_Frame_Shift_Ins_p.T506fs|GBP3_uc001dmu.3_Frame_Shift_Ins_p.T451fs|GBP3_uc001dmv.3_Non-coding_Transcript	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	585						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		ATATCTCTTGGTTTTTTTTTTC	0.371													---	840	---	---	52	---					
BRDT	676	broad.mit.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:92447228_92447230delAGC	uc001dol.4	+	12	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_uc010osz.2_In_Frame_Del_p.S652del|BRDT_uc001dok.4_In_Frame_Del_p.S648del|BRDT_uc009wdf.3_In_Frame_Del_p.S575del|BRDT_uc010otb.2_In_Frame_Del_p.S602del|BRDT_uc010ota.2_In_Frame_Del_p.S602del|BRDT_uc001dom.4_In_Frame_Del_p.S648del	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	648	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419													---	574	---	---	9	---					
AKNAD1	254268	broad.mit.edu	37	1	109369904	109369904	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:109369904delT	uc001dwa.3	-	10	2128	c.1859delA	c.(1858-1860)aagfs	p.K620fs	AKNAD1_uc010ovb.2_Frame_Shift_Del_p.K327fs|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	620										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCGTGGCCCTTTTTCTCCAC	0.413													---	1066	---	---	7	---					
FAM40A	85369	broad.mit.edu	37	1	110591816	110591818	+	In_Frame_Del	DEL	CTG	-	-	rs41281358		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:110591816_110591818delCTG	uc001dza.1	+	15	1763_1765	c.1744_1746delCTG	c.(1744-1746)ctgdel	p.L586del	FAM40A_uc001dyz.1_In_Frame_Del_p.L491del|FAM40A_uc009wfp.1_In_Frame_Del_p.L410del	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	Homo sapiens family with sequence similarity 40, member A (FAM40A), mRNA.	586						nucleus	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)	23		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		TTCTGCTGTCCTGCTGCTGCTGC	0.547													---	425	---	---	8	---					
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:145415369_145415371delGAG	uc001eni.2	+	2	513_515	c.188_190delGAG	c.(187-192)cgagga>cga	p.G69del	HFE2_uc001enk.2_5'UTR|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	69	Poly-Gly.			G -> GG (in Ref. 3; ABC40718).	axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626													---	609	---	---	13	---					
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:145457040_145457042delTCT	uc001enp.1	-	6	626_628	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E		NM_032305	NP_115681	Q9BT43	RPC7L_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like (POLR3GL), mRNA.	173	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448													---	147	---	---	7	---					
PRPF3	9129	broad.mit.edu	37	1	150307605	150307605	+	Frame_Shift_Del	DEL	T	-	-	rs34541287		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:150307605delT	uc001eum.4	+	6	1090	c.928delT	c.(928-930)tttfs	p.F310fs	PRPF3_uc009wlp.2_Non-coding_Transcript|PRPF3_uc010pca.2_Frame_Shift_Del_p.F269fs|PRPF3_uc010pcb.2_Frame_Shift_Del_p.F261fs|PRPF3_uc009wlq.1_Non-coding_Transcript	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	310					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ATCCAATACCTTTTTTGACCC	0.463													---	421	---	---	7	---					
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	-	-	rs149280379		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:150530506delG	uc009wlw.3	+	13	2490	c.2332delG	c.(2332-2334)gggfs	p.G778fs	ADAMTSL4_uc001euw.3_Frame_Shift_Del_p.G755fs|ADAMTSL4_uc001eux.3_Frame_Shift_Del_p.G755fs|ADAMTSL4_uc010pcg.2_Frame_Shift_Del_p.G716fs|ADAMTSL4_uc009wlx.3_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	755	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692													---	966	---	---	23	---					
TCHH	7062	broad.mit.edu	37	1	152083818	152083820	+	In_Frame_Del	DEL	CGG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:152083818_152083820delCGG	uc009wne.1	-	2	2145_2147	c.1873_1875delCCG	c.(1873-1875)ccgdel	p.P625del	TCHH_uc001ezp.2_In_Frame_Del_p.P625del	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	625	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCCTCCGGCTCCTCGCGC	0.680													---	697	---	---	8	---					
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	-	-	rs74871420		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:152681693_152681698delTGTGGT	uc001fak.2	+	0	171_176	c.142_147delTGTGGT	c.(142-147)tgtggtdel	p.CG48del		NM_178356	NP_848133	Q5TA78	LCE4A_HUMAN	Homo sapiens late cornified envelope 4A (LCE4A), mRNA.	48	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578													---	1048	---	---	12	---					
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:154680586_154680588delGCT	uc021pah.1	-	8	2419_2421	c.2105_2107delAGC	c.(2104-2109)cagctc>ctc	p.Q702del	KCNN3_uc001ffo.3_In_Frame_Del_p.Q382del|KCNN3_uc001ffp.3_In_Frame_Del_p.Q687del	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	692						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GCAGACAGGAGCTGCTGCTGCTG	0.640													---	700	---	---	15	---					
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	-	-	rs143592003		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:154917508_154917510delGGT	uc001ffr.3	-	10	2245_2247	c.2186_2188delACC	c.(2185-2190)caccgg>cgg	p.H729del	PBXIP1_uc001ffs.3_In_Frame_Del_p.H700del|PBXIP1_uc010pep.2_In_Frame_Del_p.H574del	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	729	His-rich.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.640													---	538	---	---	10	---					
SHC1	6464	broad.mit.edu	37	1	154942911	154942911	+	Frame_Shift_Del	DEL	G	-	-	rs115641580	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:154942911delG	uc001ffv.3	-	0	313	c.92delC	c.(91-93)ccgfs	p.P31fs	SHC1_uc001ffw.3_Frame_Shift_Del_p.P31fs|SHC1_uc001ffx.3_Intron|SHC1_uc001ffy.3_Intron|SHC1_uc001ffz.1_5'Flank	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	31					Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.E32fs*23(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAGCTCCTCCGGGGGGGTGGA	0.622													---	470	---	---	8	---					
ASH1L	55870	broad.mit.edu	37	1	155450526	155450527	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:155450526_155450527insT	uc009wqq.3	-	2	2614_2615	c.2134_2135insA	c.(2134-2136)agafs	p.R712fs	ASH1L_uc001fkt.3_Frame_Shift_Ins_p.R712fs|ASH1L_uc009wqr.1_Frame_Shift_Ins_p.R712fs	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	712					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTTCCTTTTCTTTTTTTTAAT	0.401													---	463	---	---	7	---					
NES	10763	broad.mit.edu	37	1	156640235	156640235	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:156640235delC	uc001fpq.3	-	3	3878	c.3745delG	c.(3745-3747)gtgfs	p.V1249fs	NES_uc021pbh.1_Frame_Shift_Del_p.V167fs	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1249	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCCCCTGCACCCCCCAGCTA	0.662													---	1392	---	---	9	---					
PVRL4	81607	broad.mit.edu	37	1	161059028	161059030	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:161059028_161059030delAGC	uc001fxo.2	-	0	356_358	c.57_59delGCT	c.(55-60)ctgcta>cta	p.19_20LL>L		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	19					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCCAGCAGTAGCAGCAGCAGCA	0.567													---	1103	---	---	14	---					
USP21	27005	broad.mit.edu	37	1	161134660	161134660	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:161134660delA	uc010pkc.2	+	11	1797	c.1420delA	c.(1420-1422)aaafs	p.K474fs	USP21_uc010pkd.2_Frame_Shift_Del_p.K474fs|USP21_uc021pbv.1_Non-coding_Transcript|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	474					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGGCTCCATCAAAAAAAGTTC	0.517													---	669	---	---	7	---					
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:161254154_161254156delGGA	uc001gad.3	+	2	338_340	c.90_92delGGA	c.(88-93)gcggag>gcg	p.E35del		NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	Homo sapiens Purkinje cell protein 4 like 1 (PCP4L1), mRNA.	35								p.E35delE(2)|p.A30A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488													---	896	---	---	15	---					
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:165177332_165177334delTGC	uc001gcz.2	-	6	977_979	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	LMX1A_uc021pdz.1_In_Frame_Del_p.261_262QQ>Q|LMX1A_uc021pdy.1_In_Frame_Del_p.12_13QQ>Q|LMX1A_uc001gcw.2_5'UTR	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	261	Gln-rich.|Poly-Gln.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567													---	366	---	---	14	---					
POU2F1	5451	broad.mit.edu	37	1	167385016	167385018	+	In_Frame_Del	DEL	CCA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:167385016_167385018delCCA	uc001gec.3	+	16	2440_2442	c.2201_2203delCCA	c.(2200-2205)tccacc>tcc	p.T738del	POU2F1_uc001gee.3_In_Frame_Del_p.T761del|POU2F1_uc010plh.2_In_Frame_Del_p.T698del|POU2F1_uc001ged.3_In_Frame_Del_p.T736del|POU2F1_uc001gef.3_In_Frame_Del_p.T750del|POU2F1_uc001geg.3_Intron	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	738					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGGGCTGCGTCCACCACCACCAC	0.601													---	1452	---	---	8	---					
SLC9C2	284525	broad.mit.edu	37	1	173552688	173552688	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:173552688delA	uc001giz.2	-	5	1020	c.597delT	c.(595-597)tttfs	p.F199fs	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	199					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GAAAATTTCCAAAAAAAATTG	0.279													---	697	---	---	7	---					
TNR	7143	broad.mit.edu	37	1	175372615	175372615	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:175372615delC	uc001gkp.1	-	1	718	c.637delG	c.(637-639)gtgfs	p.V213fs	TNR_uc009wwu.1_Frame_Shift_Del_p.V213fs|TNR_uc010pmz.1_Frame_Shift_Del_p.V213fs	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	213	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCACACACACCCCCCGGCTG	0.607													---	1477	---	---	9	---					
PRG4	10216	broad.mit.edu	37	1	186273952	186273954	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:186273952_186273954delTCC	uc001gru.4	+	5	547_549	c.496_498delTCC	c.(496-498)tccdel	p.S177del	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_In_Frame_Del_p.S136del|PRG4_uc009wyl.3_Intron|PRG4_uc009wym.3_Intron|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	177	Ser-rich.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AAATCAAGAGtcctcctcctcct	0.355													---	332	---	---	9	---					
CAMSAP2	23271	broad.mit.edu	37	1	200822549	200822549	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:200822549delA	uc001gvl.3	+	13	4052	c.3782delA	c.(3781-3783)caafs	p.Q1261fs	CAMSAP2_uc001gvk.3_Frame_Shift_Del_p.Q1250fs|CAMSAP2_uc001gvm.3_Frame_Shift_Del_p.Q1234fs	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	1261				Q -> K (in Ref. 3; AAH56910).		cytoplasm|microtubule	protein binding										GTAGTAAAACAAAAAAAACAG	0.368													---	510	---	---	11	---					
GPR37L1	9283	broad.mit.edu	37	1	202097525	202097527	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:202097525_202097527delCTG	uc001gxj.3	+	1	1350_1352	c.1287_1289delCTG	c.(1285-1290)gactgc>gac	p.C436del		NM_004767	NP_004758	O60883	ETBR2_HUMAN	Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA.	436	Cys-rich.					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCTTCCTGGActgctgctgctgc	0.626													---	200	---	---	14	---					
KDM5B	10765	broad.mit.edu	37	1	202704625	202704625	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:202704625delT	uc009xag.3	-	22	3579	c.3463delA	c.(3463-3465)agcfs	p.S1155fs	KDM5B_uc001gyf.3_Frame_Shift_Del_p.S1119fs|KDM5B_uc001gyg.1_Frame_Shift_Del_p.S961fs	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1119					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AATTTGGTGCTTTTTTTCTTT	0.428													---	669	---	---	7	---					
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:212115191_212115193delTGC	uc001hiw.2	-	19	3085_3087	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_uc001hix.2_In_Frame_Del_p.830_831QQ>Q|INTS7_uc009xdb.2_In_Frame_Del_p.934_935QQ>Q|INTS7_uc001hiy.2_In_Frame_Del_p.940_941QQ>Q|INTS7_uc010pta.2_In_Frame_Del_p.905_906QQ>Q	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA.	954	Gln-rich.				snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443													---	1442	---	---	15	---					
PCNXL2	80003	broad.mit.edu	37	1	233161072	233161074	+	In_Frame_Del	DEL	GCA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:233161072_233161074delGCA	uc001hvl.2	-	25	4658_4660	c.4423_4425delTGC	c.(4423-4425)tgcdel	p.C1475del	PCNXL2_uc001hvk.1_In_Frame_Del_p.C127del|PCNXL2_uc001hvm.1_Intron	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1475						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGCCTGGTTTGCAGCAGCAGCAG	0.591											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	912	---	---	7	---					
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:237024474delA	uc001hyi.4	+	19	2516	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_uc010pxw.2_Frame_Shift_Del_p.Q291fs|MTR_uc010pxx.2_Intron|MTR_uc010pxy.2_Frame_Shift_Del_p.Q552fs	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	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	p.N697T(1)		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													---	573	---	---	17	---					
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:10917819_10917820delAG	uc002ras.3	+	10	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_uc002rat.3_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	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													---	717	---	---	40	---					
PUM2	23369	broad.mit.edu	37	2	20482977	20482979	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:20482977_20482979delGCT	uc002rds.1	-	10	1467_1469	c.1449_1451delAGC	c.(1447-1452)gcagct>gct	p.483_484AA>A	PUM2_uc002rdt.1_In_Frame_Del_p.483_484AA>A|PUM2_uc002rdr.2_In_Frame_Del_p.422_423AA>A|PUM2_uc010yjy.1_In_Frame_Del_p.483_484AA>A|PUM2_uc002rdu.1_In_Frame_Del_p.483_484AA>A|PUM2_uc010yjz.1_In_Frame_Del_p.422_423AA>A	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	483	Ala-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCCTCCAGCTGCTGCTGCTG	0.424													---	657	---	---	12	---					
KIF3C	3797	broad.mit.edu	37	2	26203464	26203466	+	In_Frame_Del	DEL	GTT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:26203464_26203466delGTT	uc002rgu.2	-	0	1978_1980	c.1321_1323delAAC	c.(1321-1323)aacdel	p.N441del	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_In_Frame_Del_p.N441del	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	441	Poly-Asn.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGGCGGTGGTTGTTGTTGTTG	0.621													---	980	---	---	8	---					
GPR113	165082	broad.mit.edu	37	2	26534413	26534413	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:26534413delC	uc002rhe.4	-	10	2183	c.2183delG	c.(2182-2184)ggtfs	p.G728fs	GPR113_uc010yky.1_Frame_Shift_Del_p.G659fs|GPR113_uc002rhb.1_Frame_Shift_Del_p.G331fs|GPR113_uc010eyk.1_Frame_Shift_Del_p.G529fs|GPR113_uc002rhc.1_Frame_Shift_Del_p.G331fs|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	728	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G529fs*46(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGGACCAACCCCCCCTGCC	0.612													---	884	---	---	10	---					
IFT172	26160	broad.mit.edu	37	2	27676932	27676932	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:27676932delC	uc002rku.3	-	32	3679	c.3628delG	c.(3628-3630)gccfs	p.A1210fs	IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1210					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCCTCCAAGGCCCCCCGGGCC	0.607													---	1049	---	---	7	---					
STRN	6801	broad.mit.edu	37	2	37113870	37113870	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:37113870delT	uc002rpn.3	-	7	1040	c.1031delA	c.(1030-1032)aagfs	p.K344fs	STRN_uc010ezx.3_Intron	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	344					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTTCACCCCCTTTTTCCCCTT	0.388													---	928	---	---	7	---					
CEBPZ	10153	broad.mit.edu	37	2	37454908	37454908	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:37454908delT	uc002rpz.3	-	1	1458	c.1428delA	c.(1426-1428)aaafs	p.K476fs		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	476					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATTCAACATCTTTTTTTTTGA	0.368													---	260	---	---	9	---					
GPR75	10936	broad.mit.edu	37	2	54080658	54080658	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:54080658delT	uc021vhn.1	-	0	1236	c.1236delA	c.(1234-1236)aaafs	p.K412fs	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Frame_Shift_Del_p.K412fs	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	412						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CGAGGTTCCCTTTTCCCATGG	0.468													---	1268	---	---	7	---					
TEKT4	150483	broad.mit.edu	37	2	95539829	95539830	+	Frame_Shift_Ins	INS	-	G	G	rs149873671		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:95539829_95539830insG	uc002stw.1	+	2	782_783	c.689_690insG	c.(688-690)ccgfs	p.P230fs	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	230					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.P230P(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCTCATCCGTACTCCACCA	0.663													---	587	---	---	7	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:96992793_96992795delGAG	uc002svy.3	+	0	859_861	c.448_450delGAG	c.(448-450)gagdel	p.E155del	ITPRIPL1_uc002svx.3_In_Frame_Del_p.E147del|ITPRIPL1_uc010yuk.2_In_Frame_Del_p.E139del|ITPRIPL1_uc010yul.2_In_Frame_Del_p.E139del	NM_178495	NP_001156996	Q6GPH6	IPIL1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 1 (ITPRIPL1), transcript variant 1, mRNA.	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													---	464	---	---	13	---					
REV1	51455	broad.mit.edu	37	2	100055102	100055102	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:100055102delT	uc002tad.3	-	5	1386	c.1174delA	c.(1174-1176)atgfs	p.M392fs	REV1_uc002tac.3_Frame_Shift_Del_p.M392fs|REV1_uc002tae.1_Frame_Shift_Del_p.M371fs	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	392					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTGTTTTCATTTTTTTTAAC	0.348								Direct reversal of damage					---	794	---	---	12	---					
ERCC3	2071	broad.mit.edu	37	2	128046944	128046946	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:128046944_128046946delTCT	uc002toh.1	-	5	884_886	c.789_791delAGA	c.(787-792)gaagag>gag	p.263_264EE>E	ERCC3_uc002toe.1_In_Frame_Del_p.18_19EE>E|ERCC3_uc002tof.1_In_Frame_Del_p.199_200EE>E|ERCC3_uc002tog.1_In_Frame_Del_p.199_200EE>E|ERCC3_uc010flx.1_In_Frame_Del_p.18_19EE>E|ERCC3_uc010yzh.1_Non-coding_Transcript	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	263	Asp/Glu-rich (acidic).				DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGTCTGTGTCTCTTCTTCTTCTT	0.473			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				---	431	---	---	9	---					
ERMN	57471	broad.mit.edu	37	2	158178062	158178064	+	In_Frame_Del	DEL	ATC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:158178062_158178064delATC	uc002tzi.3	-	3	768_770	c.613_615delGAT	c.(613-615)gatdel	p.D205del	ERMN_uc010zcj.2_In_Frame_Del_p.D86del|ERMN_uc002tzh.3_In_Frame_Del_p.D192del|ERMN_uc010zck.2_In_Frame_Del_p.D172del	NM_001009959	NP_065762	Q8TAM6	ERMIN_HUMAN	Homo sapiens ermin, ERM-like protein (ERMN), transcript variant 1, mRNA.	192						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						tattgcaattatcatcatcatca	0.365													---	834	---	---	7	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:187521084_187521085insG	uc002upq.3	+	16	1951_1952	c.1675_1676insG	c.(1675-1677)aggfs	p.R559fs	ITGAV_uc010frs.3_Frame_Shift_Ins_p.R523fs|ITGAV_uc010zfv.2_Frame_Shift_Ins_p.R513fs	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	559					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													---	1578	---	---	7	---					
KANSL1L	151050	broad.mit.edu	37	2	210887680	210887680	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:210887680delT	uc002vds.3	-	14	3165	c.2957delA	c.(2956-2958)aatfs	p.N986fs	KANSL1L_uc002vdt.3_Frame_Shift_Del_p.N944fs	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	Homo sapiens chromosome 2 open reading frame 67 (C2orf67), mRNA.	986																	CTGTCACCTATTTTTTTTAAC	0.418													---	253	---	---	8	---					
SP100	6672	broad.mit.edu	37	2	231379990	231379990	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:231379990delA	uc002vqt.3	+	24	2416	c.2275delA	c.(2275-2277)aaafs	p.K759fs	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	759	Poly-Lys.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAAAGGGGAGAAAAAAAAGAA	0.418													---	542	---	---	7	---					
SRGAP3	9901	broad.mit.edu	37	3	9027284	9027286	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:9027284_9027286delGCT	uc003brf.1	-	21	3893_3895	c.3217_3219delAGC	c.(3217-3219)agcdel	p.S1074del	SRGAP3_uc003brg.1_In_Frame_Del_p.S1050del	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	1074					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCACGCCCGAGCTGCTGCTGCTG	0.739			T	RAF1	pilocytic astrocytoma								---	226	---	---	8	---					
TAMM41	132001	broad.mit.edu	37	3	11880699	11880699	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:11880699delT	uc011auo.1	-	2	650	c.408delA	c.(406-408)aaafs	p.K136fs	TAMM41_uc003bwh.3_Frame_Shift_Del_p.K136fs|TAMM41_uc003bwi.3_Non-coding_Transcript|TAMM41_uc011aup.1_Non-coding_Transcript|TAMM41_uc010hdy.1_Non-coding_Transcript	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	Homo sapiens TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae) (TAMM41), nuclear gene encoding mitochondrial protein, mRNA.	136					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane											caCTCACCGGTTTTTGGAGTC	0.398													---	571	---	---	9	---					
DLEC1	9940	broad.mit.edu	37	3	38162039	38162040	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:38162039_38162040delGA	uc003chp.1	+	33	4826_4827	c.4805_4806delGA	c.(4804-4806)ggafs	p.G1602fs	DLEC1_uc003cho.1_Frame_Shift_Del_p.G1602fs|DLEC1_uc010hgv.1_Frame_Shift_Del_p.G1605fs|DLEC1_uc003chr.1_Frame_Shift_Del_p.G673fs|DLEC1_uc003chs.1_Frame_Shift_Del_p.G159fs	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	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													---	600	---	---	7	---					
XYLB	9942	broad.mit.edu	37	3	38437011	38437011	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:38437011delT	uc003cic.2	+	15	1416	c.1307delT	c.(1306-1308)attfs	p.I436fs	XYLB_uc011ayp.1_Frame_Shift_Del_p.I299fs|XYLB_uc003cid.1_Frame_Shift_Del_p.I358fs	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	436					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		AAGACAAAGATTTTGGCCACA	0.438													---	460	---	---	7	---					
HHATL	57467	broad.mit.edu	37	3	42739670	42739672	+	In_Frame_Del	DEL	GAA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:42739670_42739672delGAA	uc003clw.3	-	6	802_804	c.655_657delTTC	c.(655-657)ttcdel	p.F219del	HHATL_uc003clx.3_In_Frame_Del_p.F219del	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	219					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TGATGGGCCCGAAGAAGAAGAAG	0.552													---	781	---	---	9	---					
CCR3	1232	broad.mit.edu	37	3	46306948	46306948	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:46306948delT	uc003cpl.2	+	2	1429	c.398delT	c.(397-399)gttfs	p.V133fs	CCR3_uc003cpg.2_Frame_Shift_Del_p.V100fs|CCR3_uc003cpk.2_Frame_Shift_Del_p.V121fs|CCR3_uc003cpi.2_Frame_Shift_Del_p.V100fs|CCR3_uc010hjb.2_Frame_Shift_Del_p.V118fs|CCR3_uc003cpj.2_Frame_Shift_Del_p.V100fs|CCR3_uc021wwz.1_Frame_Shift_Del_p.V100fs	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	100					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488													---	2123	---	---	10	---					
CACNA1D	776	broad.mit.edu	37	3	53785830	53785830	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:53785830delA	uc003dgv.4	+	27	3734	c.3571delA	c.(3571-3573)aaafs	p.K1191fs	CACNA1D_uc003dgu.4_Frame_Shift_Del_p.K1211fs|CACNA1D_uc003dgy.4_Frame_Shift_Del_p.K1191fs|CACNA1D_uc003dgw.4_Frame_Shift_Del_p.K858fs|CACNA1D_uc003dgx.1_Frame_Shift_Del_p.K339fs	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1191					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATACATCCCCAAAAACCCCTA	0.498													---	1460	---	---	7	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:55733470_55733472delTGG	uc021wzo.1	-	14	2921_2923	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_In_Frame_Del_p.923_924HH>H	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	927	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													---	1974	---	---	27	---					
FILIP1L	11259	broad.mit.edu	37	3	99568273	99568273	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:99568273delT	uc003dtm.3	-	4	2710	c.2247delA	c.(2245-2247)aaafs	p.K749fs	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Frame_Shift_Del_p.K749fs|FILIP1L_uc010hpf.3_Frame_Shift_Del_p.K325fs|FILIP1L_uc010hpg.3_Frame_Shift_Del_p.K509fs|FILIP1L_uc003dtn.3_Frame_Shift_Del_p.K509fs|FILIP1L_uc021xbr.1_Frame_Shift_Del_p.K509fs|FILIP1L_uc003dtp.1_Frame_Shift_Del_p.K509fs	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	749						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GTTGATTTAGTTTTTTTTGCA	0.403													---	872	---	---	10	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:100148586_100148588delGAT	uc003dtx.4	+	1	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del		NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	Homo sapiens leukemia NUP98 fusion partner 1 (LNP1), mRNA.	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													---	1848	---	---	13	---					
ATG3	64422	broad.mit.edu	37	3	112277266	112277267	+	Splice_Site	INS	-	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:112277266_112277267insA	uc003dzd.3	-	2	183	c.73_splice	c.e2-1	p.E25_splice	ATG3_uc003dzc.3_Splice_Site_p.E25_splice|ATG3_uc010hqe.3_Splice_Site_p.E25_splice	NM_022488	NP_071933	Q9NT62	ATG3_HUMAN	Homo sapiens ATG3 autophagy related 3 homolog (S. cerevisiae) (ATG3), mRNA.	25					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CTTTGATTCCTAAAAAAAGCAG	0.327													---	858	---	---	7	---					
KIAA2018	205717	broad.mit.edu	37	3	113380090	113380090	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:113380090delT	uc003eam.3	-	6	850	c.439delA	c.(439-441)attfs	p.I147fs	KIAA2018_uc003eal.3_Frame_Shift_Del_p.I91fs	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	147					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.K146Q(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373													---	692	---	---	17	---					
GOLGB1	2804	broad.mit.edu	37	3	121409851	121409852	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:121409851_121409852delTC	uc010hrc.3	-	13	8485_8486	c.8359_8360delGA	c.(8359-8361)gatfs	p.D2787fs	GOLGB1_uc003eei.4_Frame_Shift_Del_p.D2782fs|GOLGB1_uc003eej.4_Frame_Shift_Del_p.D2748fs|GOLGB1_uc021xcy.1_Frame_Shift_Del_p.D2707fs	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2782					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AAGAAGAGCATCTCTCTCTCTG	0.421													---	533	---	---	7	---					
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:129546680_129546682delGCA	uc021xdy.1	-	2	974_976	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_uc010htg.3_In_Frame_Del_p.66_67AA>A	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	180						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483													---	379	---	---	12	---					
FAM194A	131831	broad.mit.edu	37	3	150421591	150421593	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:150421591_150421593delTCC	uc003eyg.3	-	0	150_152	c.93_95delGGA	c.(91-96)gaggaa>gaa	p.31_32EE>E	FAM194A_uc003eyh.3_5'UTR	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	31	Glu-rich.									NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ctccacctcttcctcctcctcct	0.635													---	149	---	---	10	---					
FXR1	8087	broad.mit.edu	37	3	180666228	180666228	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:180666228delA	uc003fkq.3	+	4	604	c.364delA	c.(364-366)aaafs	p.K122fs	FXR1_uc003fkp.3_Frame_Shift_Del_p.K37fs|FXR1_uc003fkr.3_Frame_Shift_Del_p.K122fs|FXR1_uc011bqj.2_Frame_Shift_Del_p.K36fs|FXR1_uc003fks.3_Frame_Shift_Del_p.K36fs|FXR1_uc011bqk.2_Frame_Shift_Del_p.K73fs|FXR1_uc011bql.2_Frame_Shift_Del_p.K109fs	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	122					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													---	473	---	---	10	---					
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:1019055_1019056delCA	uc003gce.3	+	6	1596_1597	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_uc003gcf.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.3_Frame_Shift_Del_p.H479fs	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	479	His-rich.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584													---	50	---	---	9	---					
RGS12	6002	broad.mit.edu	37	4	3430398	3430399	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:3430398_3430399insA	uc003ggw.3	+	15	4429_4430	c.3525_3526insA	c.(3523-3528)gggaaafs	p.G1175fs	RGS12_uc003ggv.3_Frame_Shift_Ins_p.G1175fs|RGS12_uc003ggy.1_Intron|RGS12_uc003ggz.3_Frame_Shift_Ins_p.G527fs|RGS12_uc011bvs.2_Intron|RGS12_uc003gha.3_Frame_Shift_Ins_p.G517fs|RGS12_uc010icv.3_Frame_Shift_Ins_p.G374fs	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1175						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAAAGATTGGGAAAAAAAAATA	0.332													---	468	---	---	14	---					
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:15995680delT	uc003goo.2	-	14	1909	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_uc003gor.2_Frame_Shift_Del_p.N566fs|PROM1_uc003gos.2_Frame_Shift_Del_p.N557fs|PROM1_uc003got.2_Frame_Shift_Del_p.N566fs|PROM1_uc003gou.2_Frame_Shift_Del_p.N557fs|PROM1_uc003gop.2_Frame_Shift_Del_p.N557fs|PROM1_uc003goq.3_Frame_Shift_Del_p.N557fs	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	566					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	p.N565N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428													---	606	---	---	19	---					
SEL1L3	23231	broad.mit.edu	37	4	25849258	25849258	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:25849258delT	uc003gru.4	-	1	543	c.391delA	c.(391-393)aggfs	p.R131fs		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	131						integral to membrane	binding	p.R131fs*15(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTCTTCCACCTTTTTTTGTAC	0.383													---	550	---	---	7	---					
LIAS	11019	broad.mit.edu	37	4	39462464	39462464	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:39462464delA	uc003guf.3	+	1	173	c.100delA	c.(100-102)aaafs	p.K34fs	RPL9_uc003gub.3_5'Flank|RPL9_uc003guc.3_5'Flank|RPL9_uc011byk.2_5'Flank|RPL9_uc011byl.1_5'Flank|RPL9_uc003gud.1_5'Flank|LIAS_uc003gue.4_Frame_Shift_Del_p.K34fs|LIAS_uc011bym.2_Frame_Shift_Del_p.K34fs|LIAS_uc003gug.3_Frame_Shift_Del_p.K34fs	NM_006859	NP_006850	O43766	LIAS_HUMAN	Homo sapiens lipoic acid synthetase (LIAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	34					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	p.K36fs*31(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	CTTGCCAGATAAAAAAAAGGA	0.393													---	870	---	---	10	---					
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:56304530_56304532delCTG	uc003haz.1	-	22	3204_3206	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_uc003hba.1_In_Frame_Del_p.Q760del|CLOCK_uc010igu.1_Non-coding_Transcript	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	760	Gln-rich.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512													---	329	---	---	15	---					
YTHDC1	91746	broad.mit.edu	37	4	69202891	69202893	+	In_Frame_Del	DEL	TCC	-	-	rs141105019		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:69202891_69202893delTCC	uc003hdx.3	-	3	1088_1090	c.735_737delGGA	c.(733-738)gaggaa>gaa	p.245_246EE>E	YTHDC1_uc003hdy.3_In_Frame_Del_p.245_246EE>E	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	245	Glu-rich.							p.E245E(2)|p.E246E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ttcttcttcttcctcctcctcct	0.473													---	368	---	---	13	---					
SULT1B1	27284	broad.mit.edu	37	4	70599153	70599153	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:70599153delA	uc003hen.3	-	5	873	c.575delT	c.(574-576)ttgfs	p.L192fs		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	192					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTCATAGTACAAAAAAAGTAT	0.348													---	1135	---	---	8	---					
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:76539579_76539580insT	uc011cbp.2	-	2	747_748	c.222_223insA	c.(220-225)aaacgafs	p.K74fs	CDKL2_uc003hiq.3_Frame_Shift_Ins_p.K74fs|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	74	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322													---	359	---	---	15	---					
PRDM8	56978	broad.mit.edu	37	4	81123250	81123252	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:81123250_81123252delCAG	uc010ijo.3	+	7	1473_1475	c.634_636delCAG	c.(634-636)cagdel	p.Q217del	PRDM8_uc003hmb.4_In_Frame_Del_p.Q217del|PRDM8_uc003hmc.4_In_Frame_Del_p.Q217del	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	217	Gly-rich.|Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	260	---	---	13	---					
WDFY3	23001	broad.mit.edu	37	4	85611708	85611709	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:85611708_85611709delCA	uc003hpd.3	-	60	9721_9722	c.9313_9314delTG	c.(9313-9315)tggfs	p.W3105fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3105						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCCCATCTCCCACACACACACA	0.510													---	692	---	---	7	---					
MMRN1	22915	broad.mit.edu	37	4	90844391	90844393	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:90844391_90844393delAGC	uc003hst.3	+	3	994_996	c.923_925delAGC	c.(922-927)gagcag>gag	p.Q313del	MMRN1_uc010iku.3_In_Frame_Del_p.Q279del|MMRN1_uc011cds.2_In_Frame_Del_p.Q55del	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	313	Poly-Gln.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GGAGTAGCTGAGCAGCAGCAGCA	0.448													---	2041	---	---	14	---					
SLC39A8	64116	broad.mit.edu	37	4	103189225	103189225	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:103189225delT	uc003hwb.1	-	5	1381	c.852delA	c.(850-852)aaafs	p.K284fs	SLC39A8_uc011ceo.1_Frame_Shift_Del_p.K284fs|SLC39A8_uc003hwa.1_Frame_Shift_Del_p.K217fs|SLC39A8_uc003hwc.2_Frame_Shift_Del_p.K284fs	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	284						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AACTTGGCTCTTTTTTTCCAT	0.413													---	581	---	---	7	---					
HHIP	64399	broad.mit.edu	37	4	145567851	145567853	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:145567851_145567853delGCT	uc003ijs.2	+	0	704_706	c.24_26delGCT	c.(22-27)aagctg>aag	p.L12del	LOC646576_uc003ijq.2_5'Flank|HHIP_uc003ijr.2_In_Frame_Del_p.L12del	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	12						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TCTCCTTTAAGCTGCTGCTGCTG	0.621											OREG0016346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	606	---	---	8	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:146077123_146077125delCAG	uc003ika.4	-	7	596_598	c.458_460delCTG	c.(457-462)gctgat>gat	p.A153del		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	218	OTU.						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)					CCATTCACATCAGCAGCAGCAGC	0.340													---	646	---	---	16	---					
FAM198B	51313	broad.mit.edu	37	4	159091487	159091489	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:159091487_159091489delGCT	uc003ipq.4	-	2	1328_1330	c.921_923delAGC	c.(919-924)gcagcg>gcg	p.307_308AA>A	AK096792_uc003ipu.1_5'Flank|FAM198B_uc003ipp.4_Intron|FAM198B_uc003ipr.4_Intron|FAM198B_uc003ips.3_3'UTR|AK126266_uc003ipt.1_5'Flank	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	307						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGAAAGACACGCTGCTGCTGCTG	0.458													---	292	---	---	16	---					
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:174253277_174253279delTCC	uc011ckc.1	-	3	702_704	c.582_584delGGA	c.(580-585)gaggaa>gaa	p.194_195EE>E	HMGB2_uc003ita.3_In_Frame_Del_p.194_195EE>E|HMGB2_uc003itb.2_In_Frame_Del_p.194_195EE>E	NM_001130689	NP_002120	P26583	HMGB2_HUMAN	Homo sapiens high mobility group box 2 (HMGB2), transcript variant 3, mRNA.	194	Asp/Glu-rich (acidic).				DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	DNA bending activity|RAGE receptor binding|chemoattractant activity|damaged DNA binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.E194E(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468													---	580	---	---	8	---					
DUX2	26583	broad.mit.edu	37	4	190989660	190989660	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:190989660delC	uc021xvp.1	+	0	794	c.754delC	c.(754-756)cccfs	p.P252fs	DUX4L4_uc021xvq.1_5'Flank	NM_012147	NP_036279			Homo sapiens double homeobox 2 (DUX2), mRNA.																		AACGGGGCTTCCCGCACCCCA	0.786													---	519	---	---	9	---					
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr5:6755013_6755014delAC	uc003jdx.1	+	12	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.K528fs	PAPD7_uc011cmn.2_Frame_Shift_Del_p.K527fs|PAPD7_uc010itl.1_Frame_Shift_Del_p.K348fs	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	528					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653													---	427	---	---	12	---					
PDZD2	23037	broad.mit.edu	37	5	32090059	32090061	+	In_Frame_Del	DEL	TCC	-	-	rs61744453	by1000genomes	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr5:32090059_32090061delTCC	uc003jhl.3	+	19	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_uc003jhm.3_In_Frame_Del_p.S2173del	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2173	Ser-rich.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAACTGGCGTCCTCCTCCTCCT	0.527													---	905	---	---	9	---					
SPEF2	79925	broad.mit.edu	37	5	35705894	35705894	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr5:35705894delA	uc003jjo.3	+	17	2760	c.2649delA	c.(2647-2649)gcafs	p.A883fs	SPEF2_uc003jjq.4_Frame_Shift_Del_p.A878fs|SPEF2_uc003jjp.1_Frame_Shift_Del_p.A369fs	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	883					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.K886fs*8(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGAAATAGCAAAAAAAAAGA	0.269													---	179	---	---	7	---					
LMNB1	4001	broad.mit.edu	37	5	126168434	126168436	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr5:126168434_126168436delGAG	uc003kud.2	+	9	2546_2548	c.1660_1662delGAG	c.(1660-1662)gagdel	p.E559del	LMNB1_uc010jdb.2_Non-coding_Transcript|LMNB1_uc011cxb.2_In_Frame_Del_p.E349del	NM_005573	NP_001185486	P20700	LMNB1_HUMAN	Homo sapiens lamin B1 (LMNB1), transcript variant 1, mRNA.	559	Glu-rich (highly acidic; could be involved in chromatin binding).|Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		ACCTGAAGAAGAGGAGGAGGAGG	0.330													---	965	---	---	7	---					
MEGF10	84466	broad.mit.edu	37	5	126792989	126792991	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr5:126792989_126792991delCAG	uc003kuh.4	+	25	3764_3766	c.3402_3404delCAG	c.(3400-3405)aacagc>aac	p.S1139del	MEGF10_uc003kui.4_In_Frame_Del_p.S1139del	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	1139	Necessary for formation of large intracellular vacuoles.|Ser-rich.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		gcagcagcaacagcagcagcagc	0.512													---	424	---	---	7	---					
AFF4	27125	broad.mit.edu	37	5	132270259	132270259	+	Frame_Shift_Del	DEL	T	-	-	rs35626495		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr5:132270259delT	uc003kyd.3	-	2	906	c.498delA	c.(496-498)aaafs	p.K166fs	AFF4_uc011cxk.2_5'UTR|AFF4_uc003kye.1_Frame_Shift_Del_p.K166fs|AFF4_uc003kyf.4_Frame_Shift_Del_p.K166fs	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	166	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATGCTGGCCTTTTTTCCGGC	0.512													---	1158	---	---	7	---					
EGR1	1958	broad.mit.edu	37	5	137803132	137803132	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr5:137803132delC	uc003ldb.1	+	1	1264	c.994delC	c.(994-996)cccfs	p.P332fs		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	332					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGCAAGACGCCCCCCCACGA	0.652													---	1007	---	---	7	---					
PCDHAC2	56134	broad.mit.edu	37	5	140230589	140230590	+	Frame_Shift_Ins	INS	-	T	T	rs17844337		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr5:140230589_140230590insT	uc003lht.1	+	0	3233_3234	c.2509_2510insT	c.(2509-2511)attfs	p.I837fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron	NM_014005	NP_054724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 2, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCAGCAGATTTTTTTTCTG	0.282													---	1413	---	---	7	---					
UNC5A	90249	broad.mit.edu	37	5	176301302	176301304	+	In_Frame_Del	DEL	CAC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr5:176301302_176301304delCAC	uc003mey.3	+	7	1305_1307	c.1113_1115delCAC	c.(1111-1116)agcacc>agc	p.T376del	UNC5A_uc010jkg.1_In_Frame_Del_p.T336del	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	376					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGACCTCAGCACCACCACCACC	0.645													---	773	---	---	7	---					
JARID2	3720	broad.mit.edu	37	6	15501164	15501164	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:15501164delT	uc003nbj.3	+	7	2216	c.1972delT	c.(1972-1974)tttfs	p.F658fs	JARID2_uc011div.2_Frame_Shift_Del_p.F486fs|JARID2_uc011diw.1_Frame_Shift_Del_p.F620fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	658	ARID.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCTGGCCTGCTTTTTCCGGCT	0.517													---	1165	---	---	8	---					
GABBR1	2550	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:29573436_29573438delCAG	uc003nmt.4	-	19	2683_2685	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_uc003nmp.4_In_Frame_Del_p.L666del|GABBR1_uc003nms.4_In_Frame_Del_p.L666del|GABBR1_uc003nmu.4_In_Frame_Del_p.L721del|GABBR1_uc011dlr.2_In_Frame_Del_p.L606del	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	783					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.L783M(2)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGAAGATTCCCAGCAGCAGCAGC	0.512													---	549	---	---	8	---					
PPP1R10	5514	broad.mit.edu	37	6	30572794	30572795	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:30572794_30572795insT	uc003nqn.1	-	10	1482_1483	c.930_931insA	c.(928-933)aaagtafs	p.K310fs	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	310	Interaction with TOX4 (By similarity).|Poly-Lys.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GGTGACAGTACTTTTTTTTTCT	0.446													---	309	---	---	10	---					
CDSN	1041	broad.mit.edu	37	6	31084964	31084966	+	In_Frame_Del	DEL	TTT	-	-	rs3130984	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:31084964_31084966delTTT	uc003nsm.2	-	1	482_484	c.426_428delAAA	c.(424-429)ggaaac>ggc	p.N143del	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	143	Ser-rich.		Missing (in allele 2.11).|N -> S (in dbSNP:rs3130984).		cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AGAGCCGCTGTTTCCCGAGTGAG	0.586													---	240	---	---	11	---					
EHMT2	10919	broad.mit.edu	37	6	31857309	31857311	+	In_Frame_Del	DEL	TCT	-	-	rs138941874		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:31857309_31857311delTCT	uc003nxz.1	-	7	943_945	c.933_935delAGA	c.(931-936)gaagag>gag	p.311_312EE>E	EHMT2_uc003nxy.1_In_Frame_Del_p.102_103EE>E|EHMT2_uc011don.1_In_Frame_Del_p.368_369EE>E|EHMT2_uc003nya.1_In_Frame_Del_p.311_312EE>E	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	311	Poly-Glu.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.E311Q(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						ctcctcttcctcttcttcttctt	0.493													---	514	---	---	7	---					
RING1	6015	broad.mit.edu	37	6	33178989	33178990	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:33178989_33178990insG	uc003odk.3	+	4	704_705	c.510_511insG	c.(508-513)agtgggfs	p.S170fs	RING1_uc011dqx.1_Frame_Shift_Ins_p.S170fs|RING1_uc003odl.3_Frame_Shift_Ins_p.S141fs	NM_002931	NP_002922	Q06587	RING1_HUMAN	Homo sapiens ring finger protein 1 (RING1), mRNA.	170	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|cytoplasm|nuclear speck	protein binding|zinc ion binding	p.G171V(1)		endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAGG	0.619													---	1113	---	---	8	---					
TULP1	7287	broad.mit.edu	37	6	35478775	35478777	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:35478775_35478777delTCC	uc003okv.4	-	4	372_374	c.360_362delGGA	c.(358-363)gaggaa>gaa	p.120_121EE>E	TULP1_uc003okw.4_In_Frame_Del_p.67_68EE>E|TULP1_uc021yyx.1_In_Frame_Del_p.120_121EE>E|TULP1_uc021yyy.1_In_Frame_Del_p.120_121EE>E	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	120	Poly-Glu.		Missing (in RP14).		dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	p.E119K(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						gtcctcctcttcctcctcctcct	0.567													---	552	---	---	11	---					
C6orf89	221477	broad.mit.edu	37	6	36867371	36867371	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:36867371delC	uc003omw.3	+	1	335	c.172delC	c.(172-174)cccfs	p.P58fs	C6orf89_uc003omv.3_5'UTR|C6orf89_uc003omx.3_Frame_Shift_Del_p.P51fs|C6orf89_uc011dtr.2_5'UTR	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	51						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						ACCTCAGAGACCCCCCCCGCA	0.428													---	469	---	---	8	---					
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:41168714_41168716delCAG	uc010jxm.1	-	0	210_212	c.31_33delCTG	c.(31-33)ctgdel	p.L11del		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	11					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631													---	232	---	---	16	---					
AARS2	57505	broad.mit.edu	37	6	44269193	44269193	+	Frame_Shift_Del	DEL	C	-	-	rs498512	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:44269193delC	uc010jza.1	-	19	2610	c.2607delG	c.(2605-2607)aagfs	p.K869fs	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	869					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCTGAGTTTTCTTTGCAGCCT	0.572													---	760	---	---	7	---					
ZBTB24	9841	broad.mit.edu	37	6	109802729	109802729	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:109802729delT	uc003ptl.1	-	1	669	c.501delA	c.(499-501)aaafs	p.K167fs	ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Frame_Shift_Del_p.K167fs|ZBTB24_uc010kdt.1_Non-coding_Transcript|ZBTB24_uc003ptm.3_Frame_Shift_Del_p.K167fs	NM_014797	NP_055612	O43167	ZBT24_HUMAN	Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA.	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ATGTATTGACTTTTTTTGGTC	0.418													---	1467	---	---	13	---					
OLIG3	167826	broad.mit.edu	37	6	137815210	137815212	+	In_Frame_Del	DEL	TGG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:137815210_137815212delTGG	uc003qhp.1	-	0	320_322	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	32	Poly-His.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596													---	570	---	---	7	---					
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:146755630_146755632delGAC	uc010khw.1	+	8	3753_3755	c.3283_3285delGAC	c.(3283-3285)gacdel	p.D1099del	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	1099	Asp/Glu-rich (acidic).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCGCCCGCGGACGACGACGACG	0.650													---	739	---	---	14	---					
MAP3K4	4216	broad.mit.edu	37	6	161469776	161469776	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:161469776delA	uc003qtn.3	+	2	614	c.472delA	c.(472-474)aaafs	p.K158fs	MAP3K4_uc010kkc.1_Frame_Shift_Del_p.K158fs|MAP3K4_uc003qto.3_Frame_Shift_Del_p.K158fs|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	158					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.N160fs*8(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCGTGATCGTAAAAAAAATGT	0.403													---	743	---	---	10	---					
CARD11	84433	broad.mit.edu	37	7	2963941	2963943	+	In_Frame_Del	DEL	GGA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:2963941_2963943delGGA	uc003smv.3	-	14	2198_2200	c.1864_1866delTCC	c.(1864-1866)tccdel	p.S622del		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	622					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGGATTGGTGGGAGGAGGAGGAG	0.616			Mis		DLBCL								---	493	---	---	7	---					
PHF14	9678	broad.mit.edu	37	7	11075380	11075381	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:11075380_11075381delAG	uc003sry.2	+	7	2021_2022	c.1569_1570delAG	c.(1567-1572)caagagfs	p.Q523fs	PHF14_uc011jxi.2_Frame_Shift_Del_p.Q238fs|PHF14_uc011jxj.2_Frame_Shift_Del_p.Q238fs	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	523							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGTCTTTGCAAGAGAGAGAGAA	0.376													---	1414	---	---	12	---					
AHR	196	broad.mit.edu	37	7	17379385	17379385	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:17379385delC	uc011jxz.1	+	9	2549	c.1936delC	c.(1936-1938)caafs	p.Q646fs		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	646					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GAAGCACATGCAAGTTAATGG	0.418													---	840	---	---	8	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	-	-	rs10951154	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:27135314_27135316delCGA	uc003sye.3	-	0	310_312	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOXA1_uc003syd.3_In_Frame_Del_p.R73del|HOXA1_uc022aao.1_In_Frame_Del_p.R73del|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154).			nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.650											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	390	---	---	15	---					
HOXA11	3207	broad.mit.edu	37	7	27222461	27222462	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:27222461_27222462insT	uc003syx.3	-	1	967_968	c.895_896insA	c.(895-897)attfs	p.I299fs	HOXA9_uc022aar.1_5'Flank|HOXA10_uc003syw.4_5'Flank|HOXA11_uc003syy.3_Non-coding_Transcript|HOXA11-AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	Homo sapiens homeobox A11 (HOXA11), mRNA.	299					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GTCTCTGTTAATTTTTTTTTCC	0.446			T	NUP98	CML								---	758	---	---	13	---					
AOAH	313	broad.mit.edu	37	7	36552949	36552949	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:36552949delT	uc022abu.1	-	21	2157	c.1756delA	c.(1756-1758)aggfs	p.R586fs	AOAH_uc003tfh.4_Frame_Shift_Del_p.K546fs|AOAH_uc011kba.2_Frame_Shift_Del_p.K514fs	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	0					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GAGCTGCACCTTTTTCCAGAA	0.502													---	434	---	---	7	---					
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	-	-	rs147779783	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:76112249delA	uc011kgk.1	+	2	772	c.420delA	c.(418-420)ccafs	p.P140fs	DTX2_uc003uff.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufg.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufh.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufj.4_Frame_Shift_Del_p.P231fs	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	231	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657													---	2174	---	---	20	---					
RSBN1L	222194	broad.mit.edu	37	7	77326220	77326222	+	In_Frame_Del	DEL	CCG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:77326220_77326222delCCG	uc010ldt.1	+	0	478_480	c.434_436delCCG	c.(433-438)cccgcc>ccc	p.A151del	LOC100505854_uc003ugj.1_Non-coding_Transcript|LOC100505854_uc003ugk.4_Non-coding_Transcript	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	151	Poly-Ala.					nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCTCCTGCCCGCCGCCGCCGC	0.685													---	185	---	---	7	---					
PHTF2	57157	broad.mit.edu	37	7	77569581	77569581	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:77569581delT	uc003ugs.4	+	12	1828	c.1702delT	c.(1702-1704)tttfs	p.F568fs	PHTF2_uc003ugp.3_Frame_Shift_Del_p.F530fs|PHTF2_uc010ldv.3_Frame_Shift_Del_p.F530fs|PHTF2_uc003ugq.4_Frame_Shift_Del_p.F530fs|PHTF2_uc003ugt.4_Frame_Shift_Del_p.F534fs|PHTF2_uc003ugu.4_Frame_Shift_Del_p.F530fs|PHTF2_uc022agp.1_Frame_Shift_Del_p.F568fs|PHTF2_uc010ldw.2_Frame_Shift_Del_p.F350fs	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTGGATTTTCTTTTTTTTGCT	0.303													---	820	---	---	8	---					
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:91671392_91671393delAG	uc003ulg.3	+	18	5175_5176	c.4950_4951delAG	c.(4948-4953)tcagagfs	p.S1650fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.S1650fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.S1275fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1662					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid								---	311	---	---	10	---					
CYP51A1	1595	broad.mit.edu	37	7	91752494	91752494	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:91752494delT	uc003ulm.4	-	6	1188	c.1026delA	c.(1024-1026)aaafs	p.K342fs	CYP51A1_uc011khn.2_Frame_Shift_Del_p.K237fs|CYP51A1_uc003uln.4_Frame_Shift_Del_p.K279fs	NM_000786	NP_001139624	Q16850	CP51A_HUMAN	Homo sapiens cytochrome P450, family 51, subfamily A, polypeptide 1 (CYP51A1), transcript variant 1, mRNA.	336					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTAAATAACATTTTTTTTGAA	0.398													---	1010	---	---	8	---					
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99032605	99032607	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:99032605_99032607delCTC	uc011kiw.2	-	2	466_468	c.406_408delGAG	c.(406-408)gagdel	p.E136del	ATP5J2-PTCD1_uc003uqh.3_In_Frame_Del_p.E87del	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	136								p.E87K(1)									TCCCAAAACTCTCCTCCTCCTCC	0.606													---	892	---	---	16	---					
TRIM4	89122	broad.mit.edu	37	7	99506323	99506325	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:99506323_99506325delTCT	uc003usd.3	-	3	877_879	c.678_680delAGA	c.(676-681)gaagag>gag	p.226_227EE>E	TRIM4_uc003use.3_In_Frame_Del_p.200_201EE>E|TRIM4_uc011kjc.2_In_Frame_Del_p.56_57EE>E|TRIM4_uc003usf.3_In_Frame_Del_p.200_201EE>E	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	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													---	651	---	---	8	---					
GPC2	221914	broad.mit.edu	37	7	99771554	99771554	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:99771554delC	uc003utv.3	-	4	964	c.796delG	c.(796-798)gtcfs	p.V266fs	GPC2_uc010lgr.3_Intron|GPC2_uc003utw.1_3'UTR	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	266						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.V266V(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTGAGGGGACCCCCCGGCAC	0.642													---	1186	---	---	7	---					
MEPCE	56257	broad.mit.edu	37	7	100028452	100028454	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:100028452_100028454delCAG	uc003uuw.3	+	0	1199_1201	c.811_813delCAG	c.(811-813)cagdel	p.Q274del	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	274							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGCACCACCAGCAGCAGCAGG	0.650													---	1314	---	---	10	---					
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:100284335_100284337delCCT	uc003uwg.1	-	6	1638_1640	c.629_631delAGG	c.(628-633)gagggc>ggc	p.E210del		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	210	Poly-Glu.							p.E210delE(2)		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)					CTCCAGCTGCcctcctcctcctc	0.700													---	296	---	---	12	---					
SRRT	51593	broad.mit.edu	37	7	100479332	100479332	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:100479332delG	uc003uwy.2	+	3	571	c.304delG	c.(304-306)gggfs	p.G102fs	SRRT_uc010lhl.1_Frame_Shift_Del_p.G102fs|SRRT_uc003uxa.2_Frame_Shift_Del_p.G102fs|SRRT_uc003uwz.2_Frame_Shift_Del_p.G102fs	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	102					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104fs*45(1)		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						GCCCTATGCTGGGGGGGGTGG	0.607													---	372	---	---	7	---					
PRKRIP1	79706	broad.mit.edu	37	7	102065517	102065519	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:102065517_102065519delGAG	uc011kkr.1	+	4	504_506	c.449_451delGAG	c.(448-453)agagga>aga	p.G154del	PRKRIP1_uc011kkq.1_In_Frame_Del_p.E119del|PRKRIP1_uc003uzh.2_In_Frame_Del_p.E176del|AK097289_uc003uzi.1_3'UTR			Q9H875	PKRI1_HUMAN	Homo sapiens PRKR interacting protein 1 (IL11 inducible) (PRKRIP1), mRNA.	75						nucleolus				endometrium(1)|lung(4)|ovary(1)	6						ATCTGGAACAGAGGAGGAGGAGG	0.567													---	297	---	---	8	---					
DNAJC2	27000	broad.mit.edu	37	7	102964992	102964992	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:102964992delT	uc003vbo.3	-	5	841	c.590delA	c.(589-591)aatfs	p.N197fs	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_5'UTR|DNAJC2_uc010lix.3_Frame_Shift_Del_p.N197fs|DNAJC2_uc003vbp.3_5'UTR|DNAJC2_uc003vbq.1_Non-coding_Transcript	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA.	197	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	DNA binding|Hsp70 protein binding|chromatin binding|histone binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTTAGGAACATTTTTTTTATT	0.239													---	597	---	---	9	---					
LAMB4	22798	broad.mit.edu	37	7	107763584	107763584	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:107763584delA	uc010ljo.1	-	1	110	c.26delT	c.(25-27)ttgfs	p.L9fs	LAMB4_uc003vey.2_Frame_Shift_Del_p.L9fs	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	9					cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACCAAGGTGCAAAAAAAGGGT	0.308													---	690	---	---	7	---					
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:114270016_114270018delCAG	uc003vhb.3	+	4	927_929	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_In_Frame_Del_p.Q216del|FOXP2_uc003vha.3_In_Frame_Del_p.Q99del|FOXP2_uc011kmv.2_In_Frame_Del_p.Q191del|FOXP2_uc011kmu.2_In_Frame_Del_p.Q208del|FOXP2_uc010ljz.2_In_Frame_Del_p.Q99del|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_In_Frame_Del_p.Q191del|FOXP2_uc003vgx.2_In_Frame_Del_p.Q191del|FOXP2_uc003vhc.3_In_Frame_Del_p.Q216del|FOXP2_uc003vhd.3_In_Frame_Del_p.Q191del	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	191	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507													---	378	---	---	8	---					
EPHB6	2051	broad.mit.edu	37	7	142561448	142561448	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:142561448delG	uc011kst.2	+	5	947	c.160delG	c.(160-162)gggfs	p.G54fs	EPHB6_uc011ksu.2_Frame_Shift_Del_p.G54fs|EPHB6_uc003wbs.3_Intron|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Intron	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	54						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTACCCACCAGGGGGGGTGAG	0.572													---	747	---	---	7	---					
MLL3	58508	broad.mit.edu	37	7	151856009	151856009	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:151856009delT	uc003wla.3	-	43	11828	c.11609delA	c.(11608-11610)aagfs	p.K3870fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.K2931fs|MLL3_uc003wkx.3_5'Flank|MLL3_uc003wky.3_Frame_Shift_Del_p.K1379fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3870					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTCTTCGTCCTTTTTCCTTTT	0.458			N		medulloblastoma								---	1601	---	---	8	---					
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:155531073_155531074delCA	uc010lqk.1	+	10	2081_2082	c.1713_1714delCA	c.(1711-1716)cccacafs	p.P571fs	RBM33_uc011kvv.1_Frame_Shift_Del_p.P380fs	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	571	Pro-rich.						RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.530													---	472	---	---	21	---					
NOM1	64434	broad.mit.edu	37	7	156743209	156743211	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:156743209_156743211delGAG	uc003wmy.3	+	0	793_795	c.778_780delGAG	c.(778-780)gagdel	p.E264del		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	264	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding	p.E264*(1)		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													---	320	---	---	9	---					
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	-	-	rs137989738		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:12957611_12957613delGCT	uc003wwm.2	-	8	2677_2679	c.2233_2235delAGC	c.(2233-2235)agcdel	p.S745del	DLC1_uc003wwk.1_In_Frame_Del_p.S308del|DLC1_uc003wwl.1_In_Frame_Del_p.S342del|DLC1_uc011kxx.1_In_Frame_Del_p.S234del	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	745	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.S744T(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621													---	401	---	---	15	---					
EPB49	2039	broad.mit.edu	37	8	21926552	21926552	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:21926552delC	uc022asw.1	+	3	313	c.275delC	c.(274-276)tccfs	p.S92fs	EPB49_uc022asq.1_Frame_Shift_Del_p.S92fs|EPB49_uc011kys.1_Intron|EPB49_uc022asr.1_Frame_Shift_Del_p.S92fs|EPB49_uc022ass.1_Frame_Shift_Del_p.S67fs|EPB49_uc022ast.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asu.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asv.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asx.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asy.1_Frame_Shift_Del_p.S67fs	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	92					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		AAATCCACATCCCCCCCACCA	0.602													---	905	---	---	7	---					
PPP3CC	5533	broad.mit.edu	37	8	22385025	22385025	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:22385025delA	uc011kzi.2	+	8	1504	c.1064delA	c.(1063-1065)gaafs	p.E355fs	PPP3CC_uc003xbs.3_Frame_Shift_Del_p.E355fs|PPP3CC_uc003xbt.3_Frame_Shift_Del_p.E355fs|PPP3CC_uc011kzj.2_Frame_Shift_Del_p.E70fs	NM_001243974	NP_001230903	P48454	PP2BC_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, gamma isozyme (PPP3CC), transcript variant 1, mRNA.	355					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TTTGTTGGGGAAAAAGGTAAG	0.398													---	1165	---	---	7	---					
KIAA1967	57805	broad.mit.edu	37	8	22472975	22472975	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:22472975delC	uc003xch.3	+	11	1492	c.1243delC	c.(1243-1245)cccfs	p.P415fs	KIAA1967_uc003xci.3_Frame_Shift_Del_p.P415fs|KIAA1967_uc003xcj.1_Frame_Shift_Del_p.P84fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	415					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCAGCCGGGACCCCCCCGGCG	0.582													---	1001	---	---	8	---					
C8orf80	389643	broad.mit.edu	37	8	27888776	27888776	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:27888776delT	uc003xgm.4	-	14	2035	c.1892delA	c.(1891-1893)aatfs	p.N631fs		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	631						nucleus	GTP binding|GTPase activity	p.N631H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GATCAGGAAATTTTTTTTGCA	0.453													---	1382	---	---	16	---					
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:30945377_30945379delAAG	uc003xio.4	+	11	2305_2307	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del	WRN_uc011lbe.1_In_Frame_Del_p.E38del|WRN_uc010lvk.3_5'UTR	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	510	Poly-Glu.				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.360			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				---	501	---	---	13	---					
PXDNL	137902	broad.mit.edu	37	8	52359596	52359596	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:52359596delT	uc003xqu.4	-	11	1594	c.1493delA	c.(1492-1494)aagfs	p.K498fs		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	498	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACAGACACCTTTTTCACCCC	0.448													---	1717	---	---	9	---					
TERF1	7013	broad.mit.edu	37	8	73921284	73921286	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:73921284_73921286delGAG	uc003xzd.2	+	0	188_190	c.163_165delGAG	c.(163-165)gagdel	p.E62del	TERF1_uc003xzc.2_Non-coding_Transcript|TERF1_uc003xze.2_In_Frame_Del_p.E62del	NM_017489	NP_059523	P54274	TERF1_HUMAN	Homo sapiens telomeric repeat binding factor (NIMA-interacting) 1 (TERF1), transcript variant 1, mRNA.	62	Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.				G2/M transition of mitotic cell cycle|age-dependent telomere shortening|cell division|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	DNA bending activity|caspase activator activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGGGGCCCCCgaggaggaggagg	0.650													---	139	---	---	8	---					
TMEM55A	55529	broad.mit.edu	37	8	92032481	92032481	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:92032481delT	uc003yes.3	-	2	492	c.266delA	c.(265-267)aacfs	p.N89fs		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	Homo sapiens transmembrane protein 55A (TMEM55A), mRNA.	89						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TGTTGGGGGGTTTTTGATTGG	0.393													---	685	---	---	10	---					
ESRP1	54845	broad.mit.edu	37	8	95686610	95686611	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:95686610_95686611insA	uc003ygq.4	+	11	1710_1711	c.1527_1528insA	c.(1525-1530)cataaafs	p.H509fs	ESRP1_uc003ygr.4_Frame_Shift_Ins_p.H509fs|ESRP1_uc003ygs.4_Frame_Shift_Ins_p.H509fs|ESRP1_uc003ygt.4_Frame_Shift_Ins_p.H509fs|ESRP1_uc003ygu.4_Frame_Shift_Ins_p.H509fs|ESRP1_uc003ygv.3_Frame_Shift_Ins_p.H349fs|ESRP1_uc003ygw.3_Frame_Shift_Ins_p.H349fs	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	509	RRM 3.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	p.N512fs*8(2)|p.C508R(1)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGAAGTGTCATAAAAAAAACAT	0.436													---	560	---	---	7	---					
RGS22	26166	broad.mit.edu	37	8	100990177	100990178	+	Frame_Shift_Ins	INS	-	T	T	rs7841915	by1000genomes	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:100990177_100990178insT	uc003yjb.1	-	22	3681_3682	c.3486_3487insA	c.(3484-3489)aaattgfs	p.K1162fs	RGS22_uc003yja.1_Frame_Shift_Ins_p.K981fs|RGS22_uc003yjc.1_Frame_Shift_Ins_p.K1150fs|RGS22_uc022azf.1_Frame_Shift_Ins_p.K551fs	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	1162					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)			AGGACTGCCAATTTTTTTTTCT	0.312													---	418	---	---	7	---					
RGS22	26166	broad.mit.edu	37	8	101076179	101076181	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:101076179_101076181delCTT	uc003yjb.1	-	7	1010_1012	c.815_817delAAG	c.(814-819)gaagga>gga	p.E272del	RGS22_uc003yja.1_In_Frame_Del_p.E91del|RGS22_uc003yjc.1_In_Frame_Del_p.E260del|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_In_Frame_Del_p.E176del	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	272	Poly-Glu.				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)			tcttcttctccttcttcttcttc	0.374													---	1109	---	---	8	---					
PABPC1	26986	broad.mit.edu	37	8	101721933	101721933	+	Frame_Shift_Del	DEL	T	-	-	rs112966887		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:101721933delT	uc003yjs.1	-	7	1503	c.999delA	c.(997-999)aaafs	p.K333fs	PABPC1_uc011lhc.1_Frame_Shift_Del_p.K301fs|PABPC1_uc011lhd.1_Frame_Shift_Del_p.K288fs|PABPC1_uc003yjt.1_Frame_Shift_Del_p.K330fs|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	333	RRM 4.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AACCAAACCCTTTGCTGCGAC	0.383													---	365	---	---	29	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:110455173_110455174insG	uc003yne.3	+	36	4498	c.4394_splice	c.e36-1	p.G1465_splice		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1465	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)			---	653	---	---	11	---					
PHF20L1	51105	broad.mit.edu	37	8	133826909	133826909	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:133826909delA	uc003ytt.3	+	9	1283	c.958delA	c.(958-960)aaafs	p.K320fs	PHF20L1_uc003yts.3_Frame_Shift_Del_p.K320fs|PHF20L1_uc011lja.2_Frame_Shift_Del_p.K294fs|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	320							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCAAAGTCAGAAAAAAAATGA	0.348													---	562	---	---	7	---					
EIF2C2	27161	broad.mit.edu	37	8	141554345	141554345	+	Frame_Shift_Del	DEL	G	-	-	rs148575703	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:141554345delG	uc003yvn.3	-	13	1847	c.1806delC	c.(1804-1806)cccfs	p.P602fs	EIF2C2_uc010meo.3_Frame_Shift_Del_p.P602fs|EIF2C2_uc010men.3_Frame_Shift_Del_p.P525fs	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	602	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CATCCCCGGCGGGGGGGTGAG	0.647													---	1409	---	---	9	---					
CPSF1	29894	broad.mit.edu	37	8	145621958	145621959	+	Splice_Site	INS	-	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:145621958_145621959insG	uc003zcj.3	-	25	2758	c.2683_splice	c.e25-1	p.V895_splice		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	895					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTGAGGGACCTGGGGGGGAACC	0.644													---	1061	---	---	7	---					
PTPLAD2	401494	broad.mit.edu	37	9	21007045	21007046	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:21007045_21007046insT	uc010miq.2	-	6	735_736	c.689_690insA	c.(688-690)aagfs	p.K230fs	PTPLAD2_uc010mir.1_Frame_Shift_Ins_p.K230fs	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN	Homo sapiens protein tyrosine phosphatase-like A domain containing 2 (PTPLAD2), mRNA.	230	Poly-Lys.				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371													---	634	---	---	11	---					
HRCT1	646962	broad.mit.edu	37	9	35906348	35906350	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:35906348_35906350delCTG	uc003zyr.1	+	0	160_162	c.64_66delCTG	c.(64-66)ctgdel	p.L28del		NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA.	28						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TGTGGCGGTCctgctgctgctgc	0.670													---	145	---	---	9	---					
LOC642236	642236	broad.mit.edu	37	9	68435876	68435877	+	RNA	INS	-	C	C	rs80198979	by1000genomes	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:68435876_68435877insC	uc022bht.1	-	4		c.604_605insG								Homo sapiens FSHD region gene 1 pseudogene (LOC642236), non-coding RNA.																		GCATCTGAACGCCAACAACAAG	0.342													---	276	---	---	7	---					
ANKRD19P	138649	broad.mit.edu	37	9	95599088	95599089	+	RNA	DEL	CA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:95599088_95599089delCA	uc004ass.2	+	8		c.1172_1173delCA			ANKRD19P_uc004asr.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 19, pseudogene (ANKRD19P), non-coding RNA.																		TTCACGGGCGCACACACACACA	0.421													---	340	---	---	8	---					
DAB2IP	153090	broad.mit.edu	37	9	124522389	124522391	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:124522389_124522391delAAG	uc004bln.3	+	5	826_828	c.757_759delAAG	c.(757-759)aagdel	p.K257del	DAB2IP_uc004blo.3_In_Frame_Del_p.K161del	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	285	C2.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGAGACCGACAAGAAGAAGAAGA	0.601													---	531	---	---	10	---					
FNBP1	23048	broad.mit.edu	37	9	132687243	132687243	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:132687243delT	uc004byw.1	-	8	1202	c.983delA	c.(982-984)aatfs	p.N328fs	FNBP1_uc011mbv.1_Frame_Shift_Del_p.N328fs|FNBP1_uc011mbw.1_Frame_Shift_Del_p.N328fs|FNBP1_uc004bza.2_Frame_Shift_Del_p.N328fs|FNBP1_uc004byz.1_Frame_Shift_Del_p.N328fs|FNBP1_uc004byx.1_Frame_Shift_Del_p.N249fs|FNBP1_uc004byy.1_Frame_Shift_Del_p.N249fs	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	Homo sapiens formin binding protein 1 (FNBP1), mRNA.	328	Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CAGTACCTTATTTTTTTTGAT	0.378			T	MLL	AML								---	110	---	---	9	---					
CEL	1056	broad.mit.edu	37	9	135941982	135941982	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:135941982delG	uc010naa.1	+	4	629	c.613delG	c.(613-615)gggfs	p.G205fs		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	202					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGCGGCCTTCGGGGGGGACCC	0.642													---	1410	---	---	10	---					
GRIN1	2902	broad.mit.edu	37	9	140056884	140056886	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:140056884_140056886delGAG	uc004clk.3	+	12	2110_2112	c.1780_1782delGAG	c.(1780-1782)gagdel	p.E598del	GRIN1_uc004cli.1_In_Frame_Del_p.E273del|GRIN1_uc004clj.1_In_Frame_Del_p.E595del|GRIN1_uc004cln.3_In_Frame_Del_p.E619del|GRIN1_uc004clo.3_In_Frame_Del_p.E619del|GRIN1_uc004clm.3_In_Frame_Del_p.E598del|GRIN1_uc004cll.3_In_Frame_Del_p.E598del	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	598					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGTGAACAGCGAGGAGGAGGAGG	0.739													---	297	---	---	12	---					
PRKCQ	5588	broad.mit.edu	37	10	6527117	6527117	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:6527117delT	uc001iji.1	-	8	1198	c.1114delA	c.(1114-1116)agafs	p.R372fs	PRKCQ_uc001ijj.2_Frame_Shift_Del_p.R339fs|PRKCQ_uc009xim.2_Frame_Shift_Del_p.R339fs|PRKCQ_uc009xin.2_Frame_Shift_Del_p.R303fs|PRKCQ_uc010qax.2_Frame_Shift_Del_p.R214fs	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	339					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CAGCTACCTCTTTTTCCCGGT	0.443													---	1300	---	---	7	---					
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	AGA	AGA	rs145490621	by1000genomes	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:22498484_22498485insAGA	uc021pob.1	-	0	428_429	c.428_429insTCT	c.(427-429)ctg>ctTCTg	p.143_143L>LL		NM_001199938	NP_001186867			Homo sapiens endogenous Bornavirus-like nucleoprotein 1 (EBLN1), mRNA.																		CAATGCCTATCAGATCACAGCA	0.455													---	31	---	---	25	---					
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:24822125_24822127delGAA	uc001iru.4	+	15	3776_3778	c.3373_3375delGAA	c.(3373-3375)gaadel	p.E1129del	KIAA1217_uc001irs.3_In_Frame_Del_p.E1049del|KIAA1217_uc001irt.4_In_Frame_Del_p.E1094del|KIAA1217_uc010qcy.2_In_Frame_Del_p.E1093del|KIAA1217_uc010qcz.2_In_Frame_Del_p.E1094del|KIAA1217_uc001irw.3_In_Frame_Del_p.E812del|KIAA1217_uc001irz.3_In_Frame_Del_p.E812del|KIAA1217_uc001irx.3_In_Frame_Del_p.E812del|KIAA1217_uc001iry.3_In_Frame_Del_p.E812del	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1129					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGATGAGGAGGAAGAAGAAGAAG	0.552													---	452	---	---	8	---					
MYO3A	53904	broad.mit.edu	37	10	26462760	26462760	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:26462760delA	uc001isn.2	+	29	3927	c.3567delA	c.(3565-3567)ccafs	p.P1189fs	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1189					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.M1192fs*1(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCAGACTCCAAAAAAAATGA	0.403													---	341	---	---	8	---					
C10orf68	79741	broad.mit.edu	37	10	33018277	33018277	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:33018277delA	uc001iwm.1	+	7	882	c.646delA	c.(646-648)aaafs	p.K216fs	C10orf68_uc001iwl.1_Frame_Shift_Del_p.K248fs|C10orf68_uc001iwn.4_Frame_Shift_Del_p.K240fs|C10orf68_uc010qei.1_Frame_Shift_Del_p.K152fs|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	240										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTTAGAAATCAAAAAAAAGGA	0.323													---	435	---	---	8	---					
A1CF	29974	broad.mit.edu	37	10	52569667	52569669	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:52569667_52569669delAGC	uc001jjj.3	-	11	1806_1808	c.1618_1620delGCT	c.(1618-1620)gctdel	p.A540del	A1CF_uc010qho.2_In_Frame_Del_p.A548del|A1CF_uc010qhn.2_In_Frame_Del_p.A540del|A1CF_uc009xov.3_In_Frame_Del_p.A532del|A1CF_uc001jji.3_In_Frame_Del_p.A532del|A1CF_uc001jjh.3_In_Frame_Del_p.A540del	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	540					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGAAagcagtagcagcagcagca	0.512													---	419	---	---	9	---					
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:81070787_81070789delCTC	uc001kaf.2	+	23	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_uc001kag.2_In_Frame_Del_p.P862del|ZMIZ1_uc010qlq.1_Intron	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	986	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													---	871	---	---	10	---					
FAS	355	broad.mit.edu	37	10	90768708	90768708	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:90768708delT	uc001kfr.3	+	3	743	c.397delT	c.(397-399)tttfs	p.F133fs	FAS_uc010qna.2_Non-coding_Transcript|FAS_uc001kft.3_Frame_Shift_Del_p.F133fs|FAS_uc010qnb.2_Intron|FAS_uc001kfs.3_Frame_Shift_Del_p.F133fs|FAS_uc010qnc.2_Intron|FAS_uc010qnd.2_Intron|FAS_uc010qne.2_Intron|FAS_uc001kfw.3_Intron|FAS_uc009xtp.3_Non-coding_Transcript	NM_000043	NP_000034	P25445	TNR6_HUMAN	Homo sapiens Fas (TNF receptor superfamily, member 6) (FAS), transcript variant 1, mRNA.	133					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TAAACCAAACTTTTTTTGTAA	0.368													---	3367	---	---	7	---					
HECTD2	143279	broad.mit.edu	37	10	93247481	93247481	+	Frame_Shift_Del	DEL	A	-	-	rs57105282		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:93247481delA	uc010qnm.1	+	11	1249	c.1149delA	c.(1147-1149)gcafs	p.A383fs	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Frame_Shift_Del_p.A379fs|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_Intron|HECTD2_uc001khn.1_Frame_Shift_Del_p.A29fs	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	379					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CTGTAGCTGCAAAAAAAATCA	0.318													---	760	---	---	8	---					
HELLS	3070	broad.mit.edu	37	10	96331163	96331163	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:96331163delA	uc009xuo.3	+	6	559	c.454delA	c.(454-456)aaafs	p.K152fs	HELLS_uc001kjs.3_Frame_Shift_Del_p.K136fs|HELLS_uc001kjt.3_Frame_Shift_Del_p.K152fs|HELLS_uc009xul.3_Frame_Shift_Del_p.K152fs|HELLS_uc009xum.3_Frame_Shift_Del_p.K152fs|HELLS_uc009xun.3_Frame_Shift_Del_p.K28fs|HELLS_uc001kju.3_5'UTR|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Frame_Shift_Del_p.K14fs|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	152					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GTCTGTGGCTAAAAAAAATAA	0.254													---	311	---	---	8	---					
SCD	6319	broad.mit.edu	37	10	102107836	102107838	+	In_Frame_Del	DEL	ACC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:102107836_102107838delACC	uc001kqy.3	+	1	533_535	c.43_45delACC	c.(43-45)accdel	p.T19del		NM_005063	NP_005054	O00767	ACOD_HUMAN	Homo sapiens stearoyl-CoA desaturase (delta-9-desaturase) (SCD), mRNA.	19					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581													---	874	---	---	9	---					
NT5C2	22978	broad.mit.edu	37	10	104849436	104849438	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:104849436_104849438delTCC	uc001kwo.3	-	18	1870_1872	c.1677_1679delGGA	c.(1675-1680)gaggaa>gaa	p.559_560EE>E	NT5C2_uc010qqp.2_In_Frame_Del_p.530_531EE>E|NT5C2_uc001kwq.3_In_Frame_Del_p.559_560EE>E|NT5C2_uc001kwp.3_In_Frame_Del_p.406_407EE>E	NM_012229	NP_036361	P49902	5NTC_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic II (NT5C2), transcript variant 1, mRNA.	559	Asp/Glu-rich (acidic).				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	tccttattcttcctcctcctcct	0.502													---	245	---	---	12	---					
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:281553_281555delGAG	uc010qvs.2	+	3	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_uc010qvt.2_In_Frame_Del_p.E611del	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	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													---	874	---	---	9	---					
ATHL1	80162	broad.mit.edu	37	11	293711	293712	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:293711_293712insC	uc010qvu.2	+	9	1713_1714	c.1598_1599insC	c.(1597-1599)ggcfs	p.G533fs	ATHL1_uc001lor.4_Frame_Shift_Ins_p.G285fs|ATHL1_uc001lou.4_Frame_Shift_Ins_p.G108fs|ATHL1_uc001lov.4_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA.	533					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		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;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCCCCCAGGGCCCCGCCATGA	0.619													---	813	---	---	7	---					
CDHR5	53841	broad.mit.edu	37	11	618999	618999	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:618999delC	uc001lql.3	-	12	1827	c.1560delG	c.(1558-1560)gggfs	p.G520fs	IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Frame_Shift_Del_p.G520fs|CDHR5_uc009ycd.3_Frame_Shift_Del_p.G514fs|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Frame_Shift_Del_p.G354fs	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	520					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G519W(1)|p.P522fs*253(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CACCCGGGGGCCCCCCGGGTG	0.682													---	848	---	---	11	---					
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	-	-	rs61867552	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:864443_864445delCTG	uc001lsd.1	+	4	471_473	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_uc001lse.1_In_Frame_Del_p.L28del|TSPAN4_uc001lsf.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsg.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsh.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsi.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsj.1_In_Frame_Del_p.L92del	NM_003271	NP_001020410	O14817	TSN4_HUMAN	Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.650													---	839	---	---	32	---					
SMPD1	6609	broad.mit.edu	37	11	6412853	6412854	+	Frame_Shift_Ins	INS	-	C	C	rs74053349	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:6412853_6412854insC	uc001mcw.3	+	1	743_744	c.558_559insC	c.(556-561)ccgcccfs	p.P186fs	SMPD1_uc021qcz.1_Frame_Shift_Ins_p.P186fs|SMPD1_uc001mcv.2_Intron|SMPD1_uc009yew.3_Frame_Shift_Ins_p.P185fs|SMPD1_uc021qda.1_Non-coding_Transcript|SMPD1_uc009yex.3_Non-coding_Transcript	NM_000543	NP_000534	P17405	ASM_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.	184					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	TGCCGAAGCCGCCCCCCAAACC	0.624													---	88	---	---	9	---					
RRP8	23378	broad.mit.edu	37	11	6623336	6623338	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:6623336_6623338delTCC	uc001med.3	-	1	355_357	c.207_209delGGA	c.(205-210)gaggaa>gaa	p.69_70EE>E	ILK_uc001mee.3_5'Flank|ILK_uc001mef.3_5'Flank|ILK_uc010rap.2_5'Flank|ILK_uc010raq.2_5'Flank|ILK_uc001meh.3_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA.	69	Poly-Glu.				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	S-adenosylmethionine-dependent methyltransferase activity|methylated histone residue binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CTTCTTCCTTTCCTCCTCCTCCT	0.532													---	463	---	---	11	---					
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:6867223_6867225delTTC	uc001met.1	+	0	310_312	c.310_312delTTC	c.(310-312)ttcdel	p.F108del		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGATGTATTTCTTCTTCTTCT	0.517													---	928	---	---	12	---					
SAAL1	113174	broad.mit.edu	37	11	18127531	18127533	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:18127531_18127533delCCT	uc001mnq.3	-	0	106_108	c.56_58delAGG	c.(55-60)gaggtg>gtg	p.E19del	SAAL1_uc001mnr.3_In_Frame_Del_p.E19del	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	Homo sapiens serum amyloid A-like 1 (SAAL1), mRNA.	19					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						CCACCGGCCACCTCCTCCTCCTC	0.670											OREG0020819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	122	---	---	8	---					
TSG101	7251	broad.mit.edu	37	11	18505466	18505466	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:18505466delT	uc001mor.3	-	7	934	c.794delA	c.(793-795)aagfs	p.K265fs		NM_006292	NP_006283	Q99816	TS101_HUMAN	Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.	265					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438													---	2201	---	---	9	---					
FBXO3	26273	broad.mit.edu	37	11	33763456	33763456	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:33763456delA	uc001muz.3	-	10	1442	c.1414delT	c.(1414-1416)tagfs	p.*472fs	FBXO3_uc010rej.2_Frame_Shift_Del_p.*159fs|FBXO3_uc001muy.3_Frame_Shift_Del_p.*359fs|FBXO3_uc009ykb.3_Non-coding_Transcript	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	Homo sapiens F-box protein 3 (FBXO3), transcript variant 1, mRNA.	0					proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		AAGGCTTGCTAAAAAAGGCGT	0.418													---	391	---	---	8	---					
KBTBD4	55709	broad.mit.edu	37	11	47599139	47599139	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:47599139delA	uc001nfx.3	-	1	584	c.413delT	c.(412-414)ttgfs	p.L138fs	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.2_Frame_Shift_Del_p.L163fs|KBTBD4_uc001nfz.3_Frame_Shift_Del_p.L154fs|KBTBD4_uc001nfy.3_Frame_Shift_Del_p.L138fs|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 4 (KBTBD4), transcript variant 2, mRNA.	138										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TGTGCGGGCCAAAAACCGAGA	0.517													---	1397	---	---	7	---					
OR4C13	283092	broad.mit.edu	37	11	49974149	49974149	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:49974149delT	uc010rhz.2	+	0	207	c.175delT	c.(175-177)tttfs	p.F59fs		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CCCCATGTACTTTTTCCTGGC	0.423													---	2346	---	---	9	---					
OR4C15	81309	broad.mit.edu	37	11	55322733	55322733	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:55322733delT	uc010rig.2	+	0	951	c.951delT	c.(949-951)gctfs	p.A317fs		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A317D(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTCCATCTGCTTTTTCCCTTG	0.403										HNSCC(20;0.049)			---	1419	---	---	7	---					
TNKS1BP1	85456	broad.mit.edu	37	11	57076529	57076529	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:57076529delC	uc001njr.3	-	4	3968	c.3656delG	c.(3655-3657)ggafs	p.G1219fs	TNKS1BP1_uc001njs.3_Frame_Shift_Del_p.G1219fs|TNKS1BP1_uc009ymd.1_Frame_Shift_Del_p.G670fs	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1219	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.G1219E(2)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AACTCCGATTCCCCCCGGCTC	0.582													---	2152	---	---	11	---					
CPSF7	79869	broad.mit.edu	37	11	61183765	61183767	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:61183765_61183767delAGG	uc001nrq.3	-	5	909_911	c.775_777delCCT	c.(775-777)cctdel	p.P259del	CPSF7_uc001nrp.3_In_Frame_Del_p.P302del|CPSF7_uc001nrr.3_In_Frame_Del_p.P250del|CPSF7_uc001nrs.1_In_Frame_Del_p.P160del	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 7, 59kDa (CPSF7), transcript variant 2, mRNA.	259	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	RNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						AGTGGATACCAGGAGGAGGAGGA	0.611													---	439	---	---	12	---					
RPLP0P2	113157	broad.mit.edu	37	11	61405017	61405019	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:61405017_61405019delCTG	uc001nrz.1	+	4	1621_1623	c.866_868delCTG	c.(865-870)cctgct>cct	p.A295del						Homo sapiens ribosomal protein, large, P0 pseudogene 2 (RPLP0P2), non-coding RNA.																		acagctgctcctgctgctgctgc	0.557													---	186	---	---	7	---					
FADS2	9415	broad.mit.edu	37	11	61607885	61607887	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:61607885_61607887delTCC	uc001nsl.1	+	2	548_550	c.398_400delTCC	c.(397-402)ttcctc>ttc	p.L137del	FADS2_uc001nsj.2_In_Frame_Del_p.L115del|FADS2_uc010rlo.1_In_Frame_Del_p.L106del|FADS2_uc001nsk.3_In_Frame_Del_p.L137del	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	137				LLLL -> RTRG (in Ref. 8; CAB43280).	electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CACGTGTTCTTCCTCCTCCTCCT	0.537													---	1439	---	---	12	---					
VEGFB	7423	broad.mit.edu	37	11	64004663	64004663	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:64004663delA	uc001nyw.3	+	4	629	c.379delA	c.(379-381)aaafs	p.K127fs	VEGFB_uc001nyx.3_Frame_Shift_Del_p.K127fs	NM_003377	NP_003368	P49765	VEGFB_HUMAN	Homo sapiens vascular endothelial growth factor B (VEGFB), transcript variant VEGFB-186, mRNA.	127					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding	p.K129fs*5(2)		endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						TTTCAGACCTAAAAAAAAGGA	0.473													---	811	---	---	11	---					
MRPL49	740	broad.mit.edu	37	11	64892961	64892961	+	Splice_Site	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:64892961delC	uc001oda.2	+	3	333	c.230_splice	c.e3-1	p.D77_splice	MRPL49_uc021qle.1_Splice_Site|MRPL49_uc021qlf.1_Splice_Site_p.D15_splice	NM_004927	NP_004918	Q13405	RM49_HUMAN	Homo sapiens mitochondrial ribosomal protein L49 (MRPL49), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	77					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|ovary(1)	2						CTGTTGCAGACCCCCCACCCA	0.562													---	1067	---	---	7	---					
CCND1	595	broad.mit.edu	37	11	69465988	69465990	+	In_Frame_Del	DEL	GAG	-	-	rs3830296		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:69465988_69465990delGAG	uc001opa.3	+	4	1035_1037	c.826_828delGAG	c.(826-828)gagdel	p.E280del		NM_053056	NP_444284	P24385	CCND1_HUMAN	Homo sapiens cyclin D1 (CCND1), mRNA.	280	Poly-Glu.				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to UV-A|response to drug	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	ggaggaggaagaggaggaggagg	0.704			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			---	221	---	---	7	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	A	A	rs56022003		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:89106662_89106663insA	uc001pct.3	-	12	1314	c.1075_splice	c.e12-1	p.C359_splice	NOX4_uc009yvr.3_Splice_Site_p.C334_splice|NOX4_uc001pcu.3_Splice_Site_p.C285_splice|NOX4_uc001pcw.3_Splice_Site_p.C52_splice|NOX4_uc001pcx.3_Splice_Site_p.C52_splice|NOX4_uc001pcv.3_Splice_Site_p.C359_splice|NOX4_uc009yvo.3_Splice_Site|NOX4_uc010rtu.2_Splice_Site_p.C193_splice|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Splice_Site_p.C335_splice|NOX4_uc009yvq.3_Splice_Site_p.C335_splice	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	359	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													---	1054	---	---	22	---					
TAF1D	79101	broad.mit.edu	37	11	93471452	93471453	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:93471452_93471453insT	uc001ped.3	-	2	524_525	c.281_282insA	c.(280-282)aagfs	p.K94fs	TAF1D_uc001pec.3_5'Flank|TAF1D_uc001pdz.3_Non-coding_Transcript	NM_024116	NP_077021	Q9H5J8	TAF1D_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa (TAF1D), mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TCCTCTTTTTCTTTTTTTTATA	0.347													---	983	---	---	9	---					
AMOTL1	154810	broad.mit.edu	37	11	94597973	94597975	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:94597973_94597975delGAG	uc001pfb.3	+	9	2379_2381	c.2209_2211delGAG	c.(2209-2211)gagdel	p.E740del	AMOTL1_uc001pfc.3_In_Frame_Del_p.E690del	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	740						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CATCTGGCAAGAGGAGGAGGAGG	0.562													---	920	---	---	7	---					
BUD13	84811	broad.mit.edu	37	11	116628987	116628987	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:116628987delT	uc001ppn.3	-	6	1531	c.1497delA	c.(1495-1497)aaafs	p.K499fs	BUD13_uc001ppo.3_Frame_Shift_Del_p.K365fs	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	499										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TCCCTTACCCTTTTCCCCACT	0.448													---	1669	---	---	8	---					
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:119149356_119149358delATG	uc001pwe.3	+	8	1502_1504	c.1364_1366delATG	c.(1363-1368)tatgat>tat	p.D460del		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	460	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(2)|p.D460del(1)|p.K322_D460del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				---	487	---	---	23	---					
PRB2	653247	broad.mit.edu	37	12	11546732	11546733	+	In_Frame_Ins	INS	-	AGA	AGA			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:11546732_11546733insAGA	uc010shk.1	-	2	314_315	c.279_280insTCT	c.(277-282)insTCT	p.93_94insS		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											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)			TTTCCTGGAGGTGGGGGACCTT	0.614													---	2521	---	---	11	---					
PRB2	653247	broad.mit.edu	37	12	11546856	11546858	+	In_Frame_Del	DEL	AGA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:11546856_11546858delAGA	uc010shk.1	-	2	189_191	c.154_156delTCT	c.(154-156)tctdel	p.S52del		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.?(2)|p.P51T(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		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)			TTCCTGGAGGAGATGGGGGACCT	0.557													---	1754	---	---	16	---					
GPRC5A	9052	broad.mit.edu	37	12	13061419	13061420	+	Frame_Shift_Ins	INS	-	TGGC	TGGC			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:13061419_13061420insTGGC	uc001rba.3	+	1	886_887	c.236_237insTGGC	c.(235-237)tttfs	p.F79fs		NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA.	79						Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TTGGGCATCTTTGGCCTCACCT	0.559													---	998	---	---	63	---					
KIF21A	55605	broad.mit.edu	37	12	39735366	39735368	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:39735366_39735368delTCC	uc001rly.3	-	13	2280_2282	c.1860_1862delGGA	c.(1858-1863)gaggaa>gaa	p.620_621EE>E	KIF21A_uc001rlw.3_5'Flank|KIF21A_uc001rlx.3_In_Frame_Del_p.607_608EE>E|KIF21A_uc001rlz.3_In_Frame_Del_p.607_608EE>E|KIF21A_uc010skl.2_In_Frame_Del_p.607_608EE>E	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	620					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AATGTCAtcttcctcctcctcct	0.374													---	282	---	---	8	---					
KIF21A	55605	broad.mit.edu	37	12	39763593	39763594	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:39763593_39763594insT	uc001rly.3	-	2	807_808	c.387_388insA	c.(385-390)aaacacfs	p.K129fs	KIF21A_uc001rlx.3_Frame_Shift_Ins_p.K129fs|KIF21A_uc001rlz.3_Frame_Shift_Ins_p.K129fs|KIF21A_uc010skl.2_Frame_Shift_Ins_p.K129fs	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	129	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATTGCTATGTGTTTTTTTTCTT	0.317													---	266	---	---	7	---					
MLL2	8085	broad.mit.edu	37	12	49442512	49442514	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:49442512_49442514delTCC	uc001rta.4	-	12	4059_4061	c.4059_4061delGGA	c.(4057-4062)gaggaa>gaa	p.1353_1354EE>E		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1353	Poly-Glu.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATCATCTTCTTCCTCCTCCTCCT	0.478			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			---	1425	---	---	10	---					
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:55615114_55615116delCTT	uc010spf.2	+	0	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	107					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													---	1159	---	---	14	---					
OR6C75	390323	broad.mit.edu	37	12	55759486	55759486	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:55759486delT	uc010spk.2	+	0	592	c.592delT	c.(592-594)tttfs	p.F198fs		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L200fs*1(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACTCATGGCATTTTTTTTAGC	0.393													---	564	---	---	9	---					
ERBB3	2065	broad.mit.edu	37	12	56481662	56481662	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:56481662delG	uc001sjh.3	+	5	973	c.697delG	c.(697-699)gggfs	p.G233fs	ERBB3_uc009zoj.3_Non-coding_Transcript|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Frame_Shift_Del_p.G174fs|ERBB3_uc001sji.3_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	233					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGAGTGTGCCGGGGGCTGCTC	0.547													---	1164	---	---	8	---					
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:56558379_56558381delAGG	uc001skb.3	-	26	3380_3382	c.3274_3276delCCT	c.(3274-3276)cctdel	p.P1092del	SMARCC2_uc001skd.3_Intron|SMARCC2_uc001ska.3_Intron|SMARCC2_uc001skc.3_Intron|SMARCC2_uc010sqf.2_Intron	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	1092	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591													---	243	---	---	7	---					
LRIG3	121227	broad.mit.edu	37	12	59268350	59268351	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:59268350_59268351insG	uc001sqr.3	-	16	2946_2947	c.2700_2701insC	c.(2698-2703)acctgcfs	p.T900fs	LRIG3_uc009zqh.3_Frame_Shift_Ins_p.T840fs|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	900						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCAATATGGCAGGTCCCTTTGA	0.401			T	ROS1	NSCLC								---	492	---	---	8	---					
ACSS3	79611	broad.mit.edu	37	12	81624902	81624902	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:81624902delC	uc001szl.1	+	11	1672	c.1581delC	c.(1579-1581)tacfs	p.Y527fs	ACSS3_uc001szm.1_Frame_Shift_Del_p.Y526fs|ACSS3_uc001szn.1_Frame_Shift_Del_p.Y209fs	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	527						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGCATTTATACTTTGAAAAAT	0.308													---	178	---	---	27	---					
HVCN1	84329	broad.mit.edu	37	12	111099110	111099112	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:111099110_111099112delCTC	uc001trs.1	-	3	328_330	c.163_165delGAG	c.(163-165)gagdel	p.E55del	HVCN1_uc001trq.1_In_Frame_Del_p.E55del|HVCN1_uc001trt.1_In_Frame_Del_p.E55del|HVCN1_uc010syd.1_In_Frame_Del_p.E35del	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	55	Poly-Glu.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GTGGTGGCTGctcctcctcctcc	0.606													---	314	---	---	9	---					
CUX2	23316	broad.mit.edu	37	12	111758235	111758237	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:111758235_111758237delTCC	uc001tsa.2	+	16	2576_2578	c.2422_2424delTCC	c.(2422-2424)tccdel	p.S813del		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	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													---	312	---	---	9	---					
GCN1L1	10985	broad.mit.edu	37	12	120595737	120595739	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:120595737_120595739delCTC	uc001txo.3	-	25	3014_3016	c.3001_3003delGAG	c.(3001-3003)gagdel	p.E1001del	MIR4498_uc021res.1_5'Flank	NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1001					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGCCATCCACTCCTCCTCCTCC	0.631													---	446	---	---	10	---					
WDR66	144406	broad.mit.edu	37	12	122437802	122437802	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:122437802delA	uc009zxk.3	+	19	3346	c.3187delA	c.(3187-3189)aaafs	p.K1063fs		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	1063							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CTCCAAAGGGAAAAAGGCCAT	0.468													---	542	---	---	9	---					
VPS37B	79720	broad.mit.edu	37	12	123351892	123351892	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:123351892delG	uc001udl.3	-	3	732	c.629delC	c.(628-630)ccafs	p.P210fs		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog B (S. cerevisiae) (VPS37B), mRNA.	210	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane		p.P211fs*>76(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CGGGGGTGGTGGGGGGGGGAT	0.716													---	146	---	---	9	---					
SBNO1	55206	broad.mit.edu	37	12	123794283	123794283	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:123794283delT	uc010tap.2	-	24	3416	c.3416delA	c.(3415-3417)aatfs	p.N1139fs	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Frame_Shift_Del_p.N1138fs|SBNO1_uc010taq.2_Frame_Shift_Del_p.N90fs|SBNO1_uc001ues.1_Frame_Shift_Del_p.N90fs	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1139							ATP binding|DNA binding|hydrolase activity	p.N1138fs*9(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATATCTTCCATTTTTTTTGGC	0.388													---	700	---	---	9	---					
CCDC92	80212	broad.mit.edu	37	12	124421800	124421800	+	Frame_Shift_Del	DEL	G	-	-	rs147939560		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:124421800delG	uc001ufw.1	-	4	948	c.801delC	c.(799-801)cccfs	p.P267fs	CCDC92_uc001ufv.1_Frame_Shift_Del_p.P250fs|CCDC92_uc001ufx.1_Frame_Shift_Del_p.P267fs	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	267										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CGGAGGCGATGGGGGGGATGA	0.682													---	382	---	---	8	---					
SACS	26278	broad.mit.edu	37	13	23912864	23912864	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr13:23912864delT	uc001uon.2	-	9	5740	c.5151delA	c.(5149-5151)aaafs	p.K1717fs	SACS_uc001uoo.2_Frame_Shift_Del_p.K1570fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1717					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGAGCAGGATTTTTTTTTAA	0.358													---	325	---	---	7	---					
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr13:23914687delT	uc001uon.2	-	9	3917	c.3328delA	c.(3328-3330)attfs	p.I1110fs	SACS_uc001uoo.2_Frame_Shift_Del_p.I963fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1110					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383													---	1911	---	---	20	---					
CDK8	1024	broad.mit.edu	37	13	26975609	26975611	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr13:26975609_26975611delCAG	uc001uqr.1	+	11	1140_1142	c.1117_1119delCAG	c.(1117-1119)cagdel	p.Q377del	CDK8_uc001uqs.1_In_Frame_Del_p.Q376del|CDK8_uc001uqt.1_In_Frame_Del_p.Q204del	NM_001260	NP_001251	P49336	CDK8_HUMAN	Homo sapiens cyclin-dependent kinase 8 (CDK8), mRNA.	377	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TGAGAAGAACCAGCAGCAGCAGC	0.463													---	295	---	---	8	---					
HSPH1	10808	broad.mit.edu	37	13	31715381	31715382	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr13:31715381_31715382insT	uc001utl.3	-	12	2008_2009	c.1737_1738insA	c.(1735-1740)aaagttfs	p.K579fs	HSPH1_uc001utj.3_Frame_Shift_Ins_p.K577fs|HSPH1_uc001utk.3_Frame_Shift_Ins_p.K533fs|HSPH1_uc010aaw.3_Frame_Shift_Ins_p.K536fs|HSPH1_uc010tds.2_Frame_Shift_Ins_p.K501fs	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	577					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGCTGGTCAACTTTTTTTTCAT	0.376													---	483	---	---	12	---					
LRCH1	23143	broad.mit.edu	37	13	47243183	47243186	+	Frame_Shift_Del	DEL	CCTG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr13:47243183_47243186delCCTG	uc001vbk.3	+	2	707_710	c.471_474delCCTG	c.(469-474)gccctgfs	p.A157fs	LRCH1_uc010acp.2_Frame_Shift_Del_p.A157fs|LRCH1_uc001vbj.3_Frame_Shift_Del_p.A157fs|LRCH1_uc001vbl.4_Frame_Shift_Del_p.A157fs	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	157										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGCTGTCCGCCCTGCCTGCCTGCC	0.436													---	1294	---	---	9	---					
INTS6	26512	broad.mit.edu	37	13	51948408	51948408	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr13:51948408delT	uc001vfk.3	-	14	2654	c.2040delA	c.(2038-2040)aaafs	p.K680fs	INTS6_uc001vfi.3_Frame_Shift_Del_p.K364fs|INTS6_uc001vfj.3_Frame_Shift_Del_p.K667fs|INTS6_uc001vfl.3_Frame_Shift_Del_p.K502fs	NM_012141	NP_001035026	Q9UL03	INT6_HUMAN	Homo sapiens integrator complex subunit 6 (INTS6), transcript variant 1, mRNA.	680					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CAGGTGGTCCTTTTCCCCCAA	0.398													---	1481	---	---	7	---					
LMO7	4008	broad.mit.edu	37	13	76415307	76415308	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr13:76415307_76415308delAG	uc021rkq.1	+	22	3980_3981	c.3645_3646delAG	c.(3643-3648)gcagagfs	p.A1215fs	LMO7_uc010thv.2_Frame_Shift_Del_p.A933fs|LMO7_uc001vjt.1_Frame_Shift_Del_p.A881fs|LMO7_uc001vjv.3_Frame_Shift_Del_p.A982fs|LMO7_uc010thw.2_Frame_Shift_Del_p.A859fs|LMO7_uc001vjw.1_Frame_Shift_Del_p.A888fs	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1267						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AACAGGAGGCAGAGAGAGAGAA	0.386													---	515	---	---	8	---					
SLITRK5	26050	broad.mit.edu	37	13	88329794	88329796	+	In_Frame_Del	DEL	CGG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr13:88329794_88329796delCGG	uc001vln.3	+	1	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_uc010tic.1_In_Frame_Del_p.G481del|SLITRK5_uc021rlc.1_In_Frame_Del_p.G722del	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	722						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645													---	360	---	---	10	---					
TEP1	7011	broad.mit.edu	37	14	20852647	20852647	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:20852647delC	uc001vxe.3	-	22	3282	c.3242delG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_uc010ahk.3_Frame_Shift_Del_p.G431fs|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Frame_Shift_Del_p.G973fs|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1081					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCTGCCACACCCCCCCACTC	0.587													---	1637	---	---	12	---					
APEX1	328	broad.mit.edu	37	14	20923820	20923820	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:20923820delA	uc001vxg.3	+	1	348	c.16delA	c.(16-18)aaafs	p.K6fs	OSGEP_uc001vxf.3_5'Flank|APEX1_uc001vxh.3_Frame_Shift_Del_p.K6fs|APEX1_uc001vxi.3_Frame_Shift_Del_p.K6fs|APEX1_uc021rnr.1_Frame_Shift_Del_p.K6fs	NM_001641	NP_001632	P27695	APEX1_HUMAN	Homo sapiens APEX nuclease (multifunctional DNA repair enzyme) 1 (APEX1), transcript variant 1, mRNA.	6	Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.				DNA demethylation|DNA recombination|base-excision repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|RNA binding|chromatin DNA binding|damaged DNA binding|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GAAGCGTGGGAAAAAGGGAGC	0.557								Other BER factors					---	740	---	---	7	---					
SALL2	6297	broad.mit.edu	37	14	21993077	21993079	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:21993077_21993079delGAG	uc001wbe.3	-	1	1065_1067	c.783_785delCTC	c.(781-786)tcctct>tct	p.261_262SS>S	SALL2_uc010tly.2_In_Frame_Del_p.259_260SS>S|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	261	Poly-Ser.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		Tgaagaggaagaggaggaggagg	0.591													---	275	---	---	11	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:23341527_23341529delCCT	uc001whd.3	+	0	568_570	c.15_17delCCT	c.(13-18)accctc>acc	p.L11del	LRP10_uc001whe.3_5'Flank	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	11					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.670													---	641	---	---	43	---					
LTB4R	1241	broad.mit.edu	37	14	24785074	24785074	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:24785074delT	uc001wou.3	+	1	549	c.217delT	c.(217-219)tttfs	p.F73fs	LTB4R_uc001wos.3_Frame_Shift_Del_p.F73fs|LTB4R_uc010alp.3_Frame_Shift_Del_p.F73fs|LTB4R_uc021rrq.1_Frame_Shift_Del_p.F73fs	NM_181657	NP_858043	Q15722	LT4R1_HUMAN	Homo sapiens leukotriene B4 receptor (LTB4R), transcript variant 1, mRNA.	73					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CACTGCTCCCTTTTTCCTTCA	0.582													---	1086	---	---	7	---					
ADCY4	196883	broad.mit.edu	37	14	24803757	24803759	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:24803757_24803759delCAG	uc001wow.3	-	0	519_521	c.100_102delCTG	c.(100-102)ctgdel	p.L34del	ADCY4_uc010toh.2_5'UTR|ADCY4_uc001wox.3_In_Frame_Del_p.L34del|ADCY4_uc001woy.3_In_Frame_Del_p.L34del|ADCY4_uc001woz.4_In_Frame_Del_p.L34del	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	34					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCACGATCCCCAGCAGCAGCAGC	0.700													---	68	---	---	8	---					
KCNH5	27133	broad.mit.edu	37	14	63174303	63174303	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:63174303delG	uc001xfx.3	-	10	2941	c.2890delC	c.(2890-2892)cagfs	p.Q964fs	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CATGGTATCTGGGGGGGTACT	0.393													---	1749	---	---	11	---					
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	-	-	rs139532153		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:89629149_89629151delGAG	uc001xxo.4	-	6	1217_1219	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_uc001xxn.4_In_Frame_Del_p.338_339SS>S|FOXN3_uc010atk.3_In_Frame_Del_p.338_339SS>S	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	360					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.650													---	250	---	---	9	---					
CCNK	8812	broad.mit.edu	37	14	99969244	99969246	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:99969244_99969246delCAG	uc001ygi.4	+	7	1064_1066	c.934_936delCAG	c.(934-936)cagdel	p.Q315del		NM_001099402	NP_001092872	O75909	CCNK_HUMAN	Homo sapiens cyclin K (CCNK), mRNA.	315	Poly-Gln.				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				GCAACCAGCCCAGCAGCAGCAGC	0.621													---	803	---	---	7	---					
EVL	51466	broad.mit.edu	37	14	100594926	100594927	+	Frame_Shift_Ins	INS	-	C	C	rs150744633		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:100594926_100594927insC	uc001ygu.3	+	5	645_646	c.558_559insC	c.(556-561)ccgcccfs	p.P186fs	EVL_uc001ygt.3_Frame_Shift_Ins_p.P184fs|EVL_uc001ygv.2_Frame_Shift_Ins_p.P190fs	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	184	Pro-rich.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding	p.P189fs*41(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGcctccaccgccccccccacc	0.688													---	269	---	---	11	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													---	61	---	---	14	---					
C15orf24	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr15:34393991_34393993delAGC	uc001zhm.3	-	0	61_63	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_uc001zho.3_5'Flank	NM_020154	NP_064539	Q9NPA0	CO024_HUMAN	Homo sapiens chromosome 15 open reading frame 24 (C15orf24), mRNA.	16						cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding			large_intestine(1)|lung(5)|skin(1)	7		all_lung(180;1.76e-08)		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		ATCCCCCGATAGCAGCAGCAGCA	0.665													---	946	---	---	18	---					
FAM82A2	55177	broad.mit.edu	37	15	41029893	41029894	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr15:41029893_41029894insT	uc001zmp.1	-	9	1341_1342	c.1156_1157insA	c.(1156-1158)actfs	p.T386fs	FAM82A2_uc001zmo.1_Frame_Shift_Ins_p.T386fs|FAM82A2_uc001zmq.1_Frame_Shift_Ins_p.T386fs	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA.	386					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GGCTGTAGCAGTTTTTTTTTCT	0.450													---	342	---	---	11	---					
TTBK2	146057	broad.mit.edu	37	15	43038023	43038024	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr15:43038023_43038024insT	uc001zqo.2	-	14	4143_4144	c.3704_3705insA	c.(3703-3705)aagfs	p.K1235fs	TTBK2_uc010bcy.2_Frame_Shift_Ins_p.K1166fs|DQ586540_uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1235					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTGGCTTACTCTTCCCTTGGGG	0.535													---	1175	---	---	15	---					
TTBK2	146057	broad.mit.edu	37	15	43038025	43038026	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr15:43038025_43038026insC	uc001zqo.2	-	14	4141_4142	c.3702_3703insG	c.(3700-3705)gggaagfs	p.G1234fs	TTBK2_uc010bcy.2_Frame_Shift_Ins_p.G1165fs|DQ586540_uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1234					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGCTTACTCTTCCCTTGGGGGG	0.540													---	1195	---	---	13	---					
ZNF609	23060	broad.mit.edu	37	15	64972995	64972997	+	In_Frame_Del	DEL	CAC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr15:64972995_64972997delCAC	uc002ann.3	+	6	4096_4098	c.4096_4098delCAC	c.(4096-4098)cacdel	p.H1371del		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	1371	Poly-His.					nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGTCCACACACCACCACCACC	0.591													---	925	---	---	12	---					
IGDCC3	9543	broad.mit.edu	37	15	65621765	65621765	+	Frame_Shift_Del	DEL	G	-	-	rs145360224	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr15:65621765delG	uc002aos.2	-	12	2420	c.2168delC	c.(2167-2169)ccgfs	p.P723fs	IGDCC3_uc002aor.1_Frame_Shift_Del_p.P10fs	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	723										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCGCTGGCCGGGGGGAACAG	0.632													---	1227	---	---	7	---					
NR2F2	7026	broad.mit.edu	37	15	96875470	96875470	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr15:96875470delG	uc010uri.2	+	0	1360	c.136delG	c.(136-138)gggfs	p.G46fs	NR2F2_uc002btp.3_Intron|NR2F2_uc010urj.2_5'Flank|MIR1469_uc021swi.1_5'Flank|NR2F2_uc010urk.2_5'Flank	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	46					lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCCCGGCCAAGGGGGCCCAGC	0.786													---	4	---	---	2	---					
C16orf79	283870	broad.mit.edu	37	16	2260586	2260588	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:2260586_2260588delCAG	uc010bsh.3	-	1	350_352	c.115_117delCTG	c.(115-117)ctgdel	p.L39del	C16orf79_uc002cpi.2_In_Frame_Del_p.L39del	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.	39	Poly-Leu.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						CGGCcagcaccagcagcagcagc	0.660													---	174	---	---	12	---					
NPIP	9284	broad.mit.edu	37	16	15045758	15045759	+	Frame_Shift_Ins	INS	-	GT	GT			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:15045758_15045759insGT	uc002dcy.4	+	7	929_930	c.929_930insGT	c.(928-930)gagfs	p.E310fs	NPIP_uc002dcx.4_Non-coding_Transcript	NM_006985	NP_008916	Q9UND3	NPIP_HUMAN	Homo sapiens nuclear pore complex interacting protein (NPIP), mRNA.	310	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore											ACACCTCCCGAGTGTCTGCTCA	0.559													---	858	---	---	11	---					
C16orf62	57020	broad.mit.edu	37	16	19580800	19580802	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:19580800_19580802delTCC	uc002dgn.2	+	2	487_489	c.172_174delTCC	c.(172-174)tccdel	p.S64del	C16orf62_uc002dgo.2_In_Frame_Del_p.S153del|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_In_Frame_Del_p.S153del	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	64	Ser-rich.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTCTTCCACGTCCTCCTCCTCCT	0.562													---	411	---	---	15	---					
DNAH3	55567	broad.mit.edu	37	16	21063028	21063028	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:21063028delG	uc010vbe.2	-	28	4201	c.4201delC	c.(4201-4203)cggfs	p.R1401fs		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1401	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCACCAGCCGGGGGGAGTTT	0.567													---	905	---	---	9	---					
IL4R	3566	broad.mit.edu	37	16	27373787	27373789	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:27373787_27373789delGAG	uc002don.3	+	10	1356_1358	c.1114_1116delGAG	c.(1114-1116)gagdel	p.E376del	IL4R_uc002dop.4_In_Frame_Del_p.E361del|IL4R_uc010bxy.3_In_Frame_Del_p.E376del|IL4R_uc002doo.3_In_Frame_Del_p.E216del	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	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													---	407	---	---	16	---					
EIF3C	8663	broad.mit.edu	37	16	28734579	28734581	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:28734579_28734581delGAG	uc010byj.3	+	8	960_962	c.871_873delGAG	c.(871-873)gagdel	p.E294del	NPIPL1_uc010vct.2_Intron|EIF3C_uc010byi.3_In_Frame_Del_p.E294del|EIF3C_uc002dqs.4_In_Frame_Del_p.E294del|EIF3C_uc002dqt.4_In_Frame_Del_p.E294del|EIF3C_uc010vcy.2_In_Frame_Del_p.E284del|EIF3C_uc002dqu.4_In_Frame_Del_p.E294del|EIF3C_uc002dqv.4_In_Frame_Del_p.E40del	NM_001099661	NP_003743	Q99613	EIF3C_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit C-like (EIF3CL), mRNA.	294	Poly-Glu.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562													---	3320	---	---	11	---					
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:29998498_29998500delCTG	uc010bzm.2	+	14	2961_2963	c.2926_2928delCTG	c.(2926-2928)ctgdel	p.L981del	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_In_Frame_Del_p.L861del|TAOK2_uc002dva.2_In_Frame_Del_p.L974del|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_In_Frame_Del_p.L801del	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	974	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCTGCCCCTCCTGCTGCTGCTGC	0.709													---	485	---	---	7	---					
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:55362674_55362676delGAG	uc002ehy.3	+	4	1317_1319	c.784_786delGAG	c.(784-786)gagdel	p.E268del	IRX6_uc002ehx.3_In_Frame_Del_p.E268del	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626													---	415	---	---	19	---					
CNGB1	1258	broad.mit.edu	37	16	57983275	57983277	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:57983275_57983277delTCC	uc002emt.2	-	13	1166_1168	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	CNGB1_uc010cdh.2_In_Frame_Del_p.361_362EE>E	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	367	Poly-Glu.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ctcctcctcttcctcctcctcct	0.586													---	353	---	---	7	---					
KCTD19	146212	broad.mit.edu	37	16	67327780	67327781	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:67327780_67327781insG	uc002esu.2	-	11	1935_1936	c.1884_1885insC	c.(1882-1887)cccgccfs	p.P628fs	KCTD19_uc002est.2_Frame_Shift_Ins_p.P400fs|KCTD19_uc010vjj.1_Frame_Shift_Ins_p.P371fs	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	628						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATGGGAGTGGCGGGAGGGTCTT	0.540													---	1841	---	---	8	---					
ACD	65057	broad.mit.edu	37	16	67693646	67693648	+	In_Frame_Del	DEL	GCA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:67693646_67693648delGCA	uc002etq.4	-	2	888_890	c.551_553delTGC	c.(550-555)ctgcag>cag	p.L184del	ACD_uc002etp.4_In_Frame_Del_p.L181del|ACD_uc002etr.4_In_Frame_Del_p.L181del|ACD_uc010vjt.1_In_Frame_Del_p.L174del|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	184					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.L181delL(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCGCAGTCCTGCAGCAGCAGCAG	0.650													---	1011	---	---	10	---					
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:69726420_69726422delCAG	uc002exm.2	+	11	2974_2976	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_uc002exj.2_In_Frame_Del_p.Q812del|NFAT5_uc002exk.2_In_Frame_Del_p.Q812del|NFAT5_uc002exl.2_In_Frame_Del_p.Q906del|NFAT5_uc002exn.2_In_Frame_Del_p.Q905del|NFAT5_uc002exo.2_5'Flank|NFAT5_uc002exi.3_In_Frame_Del_p.Q812del	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	888	Poly-Gln.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473													---	419	---	---	15	---					
ZCCHC14	23174	broad.mit.edu	37	16	87445610	87445612	+	In_Frame_Del	DEL	TGG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:87445610_87445612delTGG	uc002fjz.1	-	11	2331_2333	c.2304_2306delCCA	c.(2302-2307)caccat>cat	p.768_769HH>H	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_In_Frame_Del_p.544_545HH>H	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	768	His-rich.				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGGCTGCtgatggtggtggtggt	0.665													---	309	---	---	10	---					
SPG7	6687	broad.mit.edu	37	16	89613072	89613073	+	Frame_Shift_Ins	INS	-	G	G	rs111475461	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:89613072_89613073insG	uc002fnj.3	+	10	1477_1478	c.1456_1457insG	c.(1456-1458)cggfs	p.R486fs	SPG7_uc002fnk.1_Non-coding_Transcript	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	486			R -> Q.		cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.R485S(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCAGGAGAGGCGGGAGATTTTT	0.594													---	1223	---	---	20	---					
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:3721809_3721811delTCC	uc010ckl.1	-	9	1079_1081	c.1056_1058delGGA	c.(1054-1059)gaggaa>gaa	p.352_353EE>E	C17orf85_uc002fwr.2_In_Frame_Del_p.62_63EE>E|C17orf85_uc002fwq.2_In_Frame_Del_p.72_73EE>E	NM_001114118	NP_061023	Q53F19	CQ085_HUMAN	Homo sapiens chromosome 17 open reading frame 85 (C17orf85), mRNA.	352	Glu-rich.						nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507													---	499	---	---	23	---					
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:7495872_7495874delCGG	uc002gia.2	-	14	2138_2140	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	MPDU1_uc010vuc.1_3'UTR|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytosolic large ribosomal subunit	RNA binding|protein binding	p.R590S(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547													---	1475	---	---	18	---					
CHD3	1107	broad.mit.edu	37	17	7801857	7801859	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:7801857_7801859delAAG	uc002gjd.2	+	12	2274_2276	c.2272_2274delAAG	c.(2272-2274)aagdel	p.K762del	CHD3_uc002gje.2_In_Frame_Del_p.K703del|CHD3_uc002gjf.2_In_Frame_Del_p.K703del	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	703	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCGCAAGTATAAGAAGAAGAAGA	0.488													---	318	---	---	12	---					
NDEL1	81565	broad.mit.edu	37	17	8370271	8370273	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:8370271_8370273delCTC	uc002glj.3	+	8	1165_1167	c.968_970delCTC	c.(967-972)gctcct>gct	p.P327del	NDEL1_uc002gli.3_3'UTR|NDEL1_uc002glk.1_Non-coding_Transcript	NM_030808	NP_110435	Q9GZM8	NDEL1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog (A. nidulans)-like 1 (NDEL1), transcript variant 2, mRNA.	327	Interaction with CENPF.|Interaction with NEFL (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						TTTGACCCCGCTCCTCCTCCTCC	0.576													---	688	---	---	8	---					
NUFIP2	57532	broad.mit.edu	37	17	27620932	27620934	+	In_Frame_Del	DEL	TGG	-	-	rs1054145	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:27620932_27620934delTGG	uc002hdy.4	-	0	233_235	c.144_146delCCA	c.(142-147)caccat>cat	p.48_49HH>H	NUFIP2_uc002hdx.4_In_Frame_Del_p.48_49HH>H	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	48	His-rich.					nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			Ctggtgatgatggtggtggtggt	0.591													---	1079	---	---	10	---					
SLFN12	55106	broad.mit.edu	37	17	33749493	33749493	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:33749493delA	uc002hji.4	-	1	932	c.555delT	c.(553-555)tttfs	p.F185fs	SLFN12_uc002hjj.4_Frame_Shift_Del_p.F185fs|SLFN12_uc010cts.3_Frame_Shift_Del_p.F185fs	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	185							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGTTCTATCAAAAAAAACCC	0.368													---	489	---	---	8	---					
SLFN13	146857	broad.mit.edu	37	17	33771808	33771808	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:33771808delT	uc002hjk.1	-	0	1222	c.892delA	c.(892-894)atcfs	p.I298fs	SLFN13_uc010wch.1_Frame_Shift_Del_p.I298fs|SLFN13_uc002hjl.2_Frame_Shift_Del_p.I298fs|SLFN13_uc002hjm.2_Intron|SLFN13_uc010ctt.2_Intron	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	298						intracellular	ATP binding	p.I298I(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACTTCTACGATTTTGGTGCTG	0.413													---	1681	---	---	7	---					
WNK4	65266	broad.mit.edu	37	17	40939870	40939870	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:40939870delG	uc002ibj.3	+	7	1884	c.1816delG	c.(1816-1818)gggfs	p.G606fs	WNK4_uc010wgx.2_Frame_Shift_Del_p.G270fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.G378fs|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	606					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.L605I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCAGCCCCCTGGGGGGGTGCC	0.637													---	581	---	---	9	---					
HDAC5	10014	broad.mit.edu	37	17	42157800	42157801	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:42157800_42157801insG	uc002iff.1	-	21	3128_3129	c.2796_2797insC	c.(2794-2799)cccattfs	p.P932fs	HDAC5_uc002ifd.1_Frame_Shift_Ins_p.P931fs|HDAC5_uc002ife.1_Frame_Shift_Ins_p.P931fs|HDAC5_uc010czp.1_Frame_Shift_Ins_p.P846fs	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	931	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		ACGTCTCCAATGGGGGGGTCCA	0.609													---	747	---	---	7	---					
CCDC103	388389	broad.mit.edu	37	17	42980014	42980015	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:42980014_42980015delAG	uc002iho.3	+	3	641_642	c.558_559delAG	c.(556-561)gcagagfs	p.A186fs	FAM187A_uc002ihp.1_5'Flank	NM_213607	NP_998772	Q8IW40	CC103_HUMAN	Homo sapiens coiled-coil domain containing 103 (CCDC103), mRNA.	186								p.E187K(2)		endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				TGAGCCGGGCAGAGAGAGAGAG	0.644													---	369	---	---	8	---					
HOXB2	3212	broad.mit.edu	37	17	46622130	46622132	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:46622130_46622132delAGG	uc002inm.3	-	0	262_264	c.142_144delCCT	c.(142-144)cctdel	p.P48del		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	48					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TTTGCTCGAAAGGAGGAGGAGGA	0.596													---	642	---	---	10	---					
COIL	8161	broad.mit.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:55028016delT	uc002iuu.3	-	1	618	c.587delA	c.(586-588)aagfs	p.K196fs		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	196	Lys-rich (basic).					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393													---	718	---	---	12	---					
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	-	-	rs61731354	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:56056605_56056607delTGC	uc002ivf.1	-	4	1187_1189	c.1044_1046delGCA	c.(1042-1047)cagcaa>caa	p.348_349QQ>Q	VEZF1_uc010dcn.1_In_Frame_Del_p.198_199QQ>Q	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	348	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgct	0.463													---	1363	---	---	11	---					
BZRAP1	9256	broad.mit.edu	37	17	56387404	56387406	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:56387404_56387406delTCC	uc002ivx.4	-	20	4684_4686	c.3813_3815delGGA	c.(3811-3816)gaggaa>gaa	p.1271_1272EE>E	BZRAP1_uc010dcs.3_In_Frame_Del_p.1211_1212EE>E|BZRAP1_uc010wnt.2_In_Frame_Del_p.1271_1272EE>E	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1271	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													---	495	---	---	15	---					
TEX14	56155	broad.mit.edu	37	17	56692648	56692651	+	Frame_Shift_Del	DEL	GTGG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:56692648_56692651delGTGG	uc010dcz.2	-	7	959_962	c.841_844delCCAC	c.(841-846)ccacacfs	p.P281fs	TEX14_uc002iwr.2_Frame_Shift_Del_p.P275fs|TEX14_uc002iws.2_Frame_Shift_Del_p.P275fs|TEX14_uc010dda.2_Frame_Shift_Del_p.P55fs	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	281	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCTGCAGTGTGGGTGGGTGGGG	0.559													---	984	---	---	10	---					
ACE	1636	broad.mit.edu	37	17	61560495	61560495	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:61560495delC	uc002jau.2	+	8	1482	c.1448delC	c.(1447-1449)accfs	p.T483fs	ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Frame_Shift_Del_p.T300fs|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	483	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGTGGGCGTACCCCCCCTTCC	0.562													---	1708	---	---	12	---					
FTSJ3	117246	broad.mit.edu	37	17	61901501	61901503	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:61901501_61901503delTCC	uc002jbz.3	-	10	1173_1175	c.1095_1097delGGA	c.(1093-1098)gaggaa>gaa	p.365_366EE>E	FTSJ3_uc002jca.3_In_Frame_Del_p.365_366EE>E	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	365					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GTTCAGTTGTtcctcctcctcct	0.562													---	1240	---	---	10	---					
CD300A	11314	broad.mit.edu	37	17	72469711	72469712	+	Frame_Shift_Ins	INS	-	GC	GC			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:72469711_72469712insGC	uc002jkv.3	+	1	398_399	c.77_78insGC	c.(76-78)ggcfs	p.G26fs	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	26	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						ACCGTGGCGGGCCCCGTGGGGG	0.569													---	942	---	---	10	---					
ZACN	353174	broad.mit.edu	37	17	74077980	74077982	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:74077980_74077982delCTG	uc002jqn.2	+	7	981_983	c.898_900delCTG	c.(898-900)ctgdel	p.L304del	ZACN_uc002jqo.2_Non-coding_Transcript|ZACN_uc010dgu.2_Non-coding_Transcript|EXOC7_uc002jqp.2_3'UTR|EXOC7_uc010dgv.2_3'UTR|EXOC7_uc010wsv.2_3'UTR|EXOC7_uc002jqs.3_3'UTR|EXOC7_uc010wsw.2_3'UTR|EXOC7_uc002jqq.3_3'UTR|EXOC7_uc010wsx.2_3'UTR|EXOC7_uc002jqr.3_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	Homo sapiens zinc activated ligand-gated ion channel (ZACN), mRNA.	304	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CTTCACCATCCTGCTGCTGCTGC	0.655													---	711	---	---	8	---					
DNAH17	8632	broad.mit.edu	37	17	76506467	76506467	+	Splice_Site	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:76506467delT	uc010dhp.2	-	27	4361	c.4236_splice	c.e27+1	p.K1412_splice		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACGGCCTACCTTTTCCATGCC	0.607													---	1883	---	---	9	---					
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:78201649_78201651delTGC	uc002jyb.2	+	6	932_934	c.626_628delTGC	c.(625-630)atgctg>atg	p.L213del	SLC26A11_uc002jyc.2_In_Frame_Del_p.L213del|SLC26A11_uc002jyd.2_In_Frame_Del_p.L213del|SLC26A11_uc010dhv.2_In_Frame_Del_p.L213del	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	213						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675													---	935	---	---	8	---					
SOGA2	23255	broad.mit.edu	37	18	8793004	8793004	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr18:8793004delC	uc002knr.2	+	7	2038	c.1896delC	c.(1894-1896)ggcfs	p.G632fs	SOGA2_uc002knq.2_Intron|SOGA2_uc002kns.2_Intron	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	980																	AGCTCAGGGGCCCCCCCGTTT	0.552													---	1619	---	---	8	---					
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr18:12986927_12986929delTCC	uc002krq.3	+	8	1275_1277	c.1137_1139delTCC	c.(1135-1140)cttcct>ctt	p.P385del	SEH1L_uc002krr.3_3'UTR	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													---	509	---	---	27	---					
OSBPL1A	114876	broad.mit.edu	37	18	21750331	21750331	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr18:21750331delT	uc002kve.3	-	23	2595	c.2378delA	c.(2377-2379)aatfs	p.N793fs	OSBPL1A_uc002kvd.3_Frame_Shift_Del_p.N280fs|OSBPL1A_uc010xbc.2_Frame_Shift_Del_p.N411fs	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	793					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTCTTATCATTTTTTTTGTA	0.393													---	498	---	---	8	---					
MBD3	53615	broad.mit.edu	37	19	1578372	1578374	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:1578372_1578374delCTC	uc002ltj.3	-	5	863_865	c.841_843delGAG	c.(841-843)gagdel	p.E281del	AX747577_uc002lti.1_5'Flank|MBD3_uc002ltk.3_In_Frame_Del_p.E249del|MBD3_uc002ltl.1_In_Frame_Del_p.E281del	NM_003926	NP_003917	O95983	MBD3_HUMAN	Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.	281	Poly-Glu.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTCGGGctcctcctcctcc	0.714													---	168	---	---	11	---					
LOC100131094	100131094	broad.mit.edu	37	19	4682879	4682880	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:4682879_4682880delAG	uc021ung.1	+	1	325_326	c.9_10delAG	c.(7-12)gcagagfs	p.A3fs	DPP9_uc002mba.3_Intron	NM_001242901	NP_001229830			Homo sapiens uncharacterized LOC100131094 (LOC100131094), mRNA.																		AGATGGGGGCAGAGAGAGAGAG	0.663													---	28	---	---	9	---					
SNAPC2	6618	broad.mit.edu	37	19	7987519	7987519	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:7987519delC	uc002miw.2	+	4	933	c.875delC	c.(874-876)accfs	p.T292fs	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	292					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCAGAGGAGACCCCCCCAGCC	0.662													---	467	---	---	7	---					
ECSIT	51295	broad.mit.edu	37	19	11618821	11618821	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:11618821delG	uc002msb.3	-	4	915	c.781delC	c.(781-783)cagfs	p.Q261fs	ZNF653_uc002mrz.2_5'Flank|ECSIT_uc010dyc.2_Frame_Shift_Del_p.Q261fs|ECSIT_uc010dyd.3_Frame_Shift_Del_p.Q261fs|ECSIT_uc010xma.2_Frame_Shift_Del_p.Q47fs	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	261					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ATGTGGGGCTGGGGGGGATCT	0.582													---	834	---	---	7	---					
OR7C1	26664	broad.mit.edu	37	19	14910414	14910414	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:14910414delA	uc010xnz.2	-	0	535	c.535delT	c.(535-537)tgtfs	p.C179fs		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	179					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.C179fs*7(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AGTAGATCACAAAAAAAGTGT	0.478													---	879	---	---	9	---					
KIAA1683	80726	broad.mit.edu	37	19	18376953	18376953	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:18376953delT	uc010ebn.2	-	2	1613	c.1397delA	c.(1396-1398)aacfs	p.N466fs	KIAA1683_uc002nin.2_Frame_Shift_Del_p.N466fs|KIAA1683_uc010xqe.1_Frame_Shift_Del_p.N420fs	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	466						mitochondrion		p.N466S(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTGCAATGGGTTTTTGGCTGG	0.612													---	807	---	---	9	---					
SLC7A9	11136	broad.mit.edu	37	19	33353391	33353393	+	In_Frame_Del	DEL	TGA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:33353391_33353393delTGA	uc002ntv.4	-	4	695_697	c.578_580delTCA	c.(577-582)atcagc>agc	p.I193del	SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_In_Frame_Del_p.I193del|SLC7A9_uc021usa.1_In_Frame_Del_p.I193del|SLC7A9_uc002ntw.4_Intron|JA660679_uc021usb.1_5'Flank	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	193			I -> II (in CSNU).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ACCAGCCCGCTGATGATGATGAT	0.631													---	604	---	---	8	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:38882864_38882866delCCT	uc002oim.3	+	2	363_365	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_uc002oil.1_In_Frame_Del_p.S128del	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 3 (SPRED3), transcript variant 1, mRNA.	128	Ser-rich.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													---	235	---	---	20	---					
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:38948159_38948160delTG	uc002oit.3	+	16	1944_1945	c.1814_1815delTG	c.(1813-1815)ctgfs	p.L605fs	RYR1_uc002oiu.3_Frame_Shift_Del_p.L605fs	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	605	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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													---	3092	---	---	16	---					
RYR1	6261	broad.mit.edu	37	19	39019604	39019606	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:39019604_39019606delAGG	uc002oit.3	+	75	11178_11180	c.11048_11050delAGG	c.(11047-11052)caggag>cag	p.E3689del	RYR1_uc002oiu.3_In_Frame_Del_p.E3684del|RYR1_uc002oiv.1_In_Frame_Del_p.E604del|RYR1_uc010xuf.1_In_Frame_Del_p.E609del	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3689					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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)	GCTGGggagcaggaggaggagga	0.576													---	163	---	---	8	---					
RYR1	6261	broad.mit.edu	37	19	39075696	39075698	+	In_Frame_Del	DEL	CTT	-	-	rs118192171		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:39075696_39075698delCTT	uc002oit.3	+	101	14890_14892	c.14760_14762delCTT	c.(14758-14763)accttc>acc	p.F4924del	RYR1_uc002oiu.3_In_Frame_Del_p.F4919del	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4924					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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)	TCGACATCACCTTCTTCTTCTTC	0.601													---	559	---	---	7	---					
TIMM50	92609	broad.mit.edu	37	19	39972604	39972604	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:39972604delA	uc002olu.1	+	1	632	c.499delA	c.(499-501)aaafs	p.K167fs	TIMM50_uc002olt.1_Non-coding_Transcript	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.	64	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	RNA binding|interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTATGCCAAAAAAGTTGC	0.607													---	1717	---	---	7	---					
SERTAD1	29950	broad.mit.edu	37	19	40929409	40929411	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:40929409_40929411delCTC	uc002ont.4	-	1	202_204	c.43_45delGAG	c.(43-45)gagdel	p.E15del		NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	Homo sapiens SERTA domain containing 1 (SERTAD1), mRNA.	15					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCTCC	0.557													---	425	---	---	11	---					
BCKDHA	593	broad.mit.edu	37	19	41889522	41889525	+	Frame_Shift_Del	DEL	ATGA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:41889522_41889525delATGA	uc002oqn.3	+	3	506_509	c.417_420delATGA	c.(415-420)gcatgafs	p.A139fs	BCKDHA_uc002oqi.3_3'UTR|BCKDHA_uc010ehq.3_Intron|BCKDHA_uc010ehr.3_Intron|BCKDHA_uc002oqk.4_Intron|BCKDHA_uc010eht.3_Intron|BCKDHA_uc010ehs.3_Intron|BCKDHA_uc002oqm.4_Intron	NM_001042595	NP_001036060	P12694	ODBA_HUMAN	Homo sapiens transmembrane protein 91 (TMEM91), transcript variant 2, mRNA.	0					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						gaatacatgcatGAATGAATGAAT	0.471													---	770	---	---	7	---					
NKPD1	284353	broad.mit.edu	37	19	45655769	45655771	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:45655769_45655771delCTG	uc010xxi.2	-	3	1924_1926	c.1924_1926delCAG	c.(1924-1926)cagdel	p.Q642del	NKPD1_uc021uvt.1_In_Frame_Del_p.Q420del	NM_198478	NP_940880			Homo sapiens NTPase, KAP family P-loop domain containing 1 (NKPD1), mRNA.											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CAAAGTCCCCCTGCTGCTGCTGC	0.704													---	54	---	---	7	---					
ZC3H4	23211	broad.mit.edu	37	19	47572401	47572403	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:47572401_47572403delCTC	uc002pga.4	-	13	2382_2384	c.2344_2346delGAG	c.(2344-2346)gagdel	p.E782del	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	782							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCGCTCTCTCCTCCTCCTCC	0.700													---	762	---	---	8	---					
MAMSTR	284358	broad.mit.edu	37	19	49218105	49218106	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:49218105_49218106insG	uc002pkg.2	-	5	547_548	c.485_486insC	c.(484-486)ccafs	p.P162fs	MAMSTR_uc002pkf.2_Frame_Shift_Ins_p.P59fs	NM_001130915	NP_872380	Q6ZN01	MASTR_HUMAN	Homo sapiens MEF2 activating motif and SAP domain containing transcriptional regulator (MAMSTR), transcript variant 1, mRNA.	162	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569													---	669	---	---	8	---					
FLT3LG	2323	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:49978960_49978962delCTG	uc002pnu.3	+	2	156_158	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	FLT3LG_uc002pnw.3_5'UTR|FLT3LG_uc010yau.2_In_Frame_Del_p.L20del|FLT3LG_uc002pnv.3_5'UTR|FLT3LG_uc002pnx.3_In_Frame_Del_p.L20del|FLT3LG_uc010yav.2_5'UTR	NM_001459	NP_001450	P49771	FLT3L_HUMAN	Homo sapiens fms-related tyrosine kinase 3 ligand (FLT3LG), transcript variant 3, mRNA.	20					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621													---	556	---	---	18	---					
LILRB2	10288	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:54780707_54780709delGAG	uc002qfb.3	-	9	1701_1703	c.1435_1437delCTC	c.(1435-1437)ctcdel	p.L479del	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_In_Frame_Del_p.L479del|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_In_Frame_Del_p.L478del|LILRB2_uc010yet.2_In_Frame_Del_p.L363del	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	479					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L479L(2)|p.L478F(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611													---	819	---	---	18	---					
CHGB	1114	broad.mit.edu	37	20	5903283	5903285	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:5903283_5903285delGAG	uc002wmg.3	+	3	799_801	c.493_495delGAG	c.(493-495)gagdel	p.E169del	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	169	Poly-Glu.					extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAGAGGATGAGGAGGAGGAGG	0.532													---	334	---	---	7	---					
CD93	22918	broad.mit.edu	37	20	23065523	23065523	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:23065523delC	uc002wsv.3	-	0	1455	c.1307delG	c.(1306-1308)ggcfs	p.G436fs		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	436	EGF-like 5; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAGAGGGGGCCCCCCGGGCC	0.637													---	721	---	---	7	---					
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:23345921_23345923delGAG	uc010gdb.3	+	2	1075_1077	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_uc002wsy.3_In_Frame_Del_p.E306del|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_In_Frame_Del_p.E306del	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	306					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532													---	354	---	---	9	---					
FRG1B	284802	broad.mit.edu	37	20	29624034	29624035	+	Splice_Site	INS	-	G	G	rs73621649		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:29624034_29624035insG	uc010ztl.1	+	1	1	c.-31_splice	c.e1-1		FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTTCTCCAATATTGATGAGGGC	0.287													---	79	---	---	12	---					
FRG1B	284802	broad.mit.edu	37	20	29628310	29628312	+	In_Frame_Del	DEL	AGG	-	-	rs111939959		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:29628310_29628312delAGG	uc010ztl.1	+	2	254_256	c.222_224delAGG	c.(220-225)gcagga>gca	p.G75del	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_In_Frame_Del_p.G27del					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTAAAACAGCAGGAGAAGAAGAA	0.355													---	615	---	---	7	---					
BCL2L1	598	broad.mit.edu	37	20	30309591	30309591	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:30309591delA	uc002wwl.3	-	1	797	c.431delT	c.(430-432)ttcfs	p.F144fs	BCL2L1_uc002wwk.3_Non-coding_Transcript|BCL2L1_uc002wwm.3_Intron|BCL2L1_uc002wwn.3_Frame_Shift_Del_p.F144fs|BCL2L1_uc002wwo.1_Frame_Shift_Del_p.F144fs	NM_138578	NP_612815	Q07817	B2CL1_HUMAN	Homo sapiens BCL2-like 1 (BCL2L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	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													---	2103	---	---	7	---					
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:30898763_30898765delGAG	uc002wxq.3	+	1	1363_1365	c.1183_1185delGAG	c.(1183-1185)gagdel	p.E399del	KIF3B_uc010ztv.2_Intron|KIF3B_uc010ztw.2_Intron	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	399	Poly-Glu.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571													---	245	---	---	9	---					
SYCP2	10388	broad.mit.edu	37	20	58490593	58490593	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:58490593delT	uc002yaz.3	-	7	665	c.526delA	c.(526-528)atgfs	p.M176fs	SYCP2_uc010gju.1_Frame_Shift_Del_p.M77fs	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	176					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)			ATAGCATTCATTTTTTTTATA	0.289													---	640	---	---	8	---					
PRDM15	63977	broad.mit.edu	37	21	43221415	43221417	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr21:43221415_43221417delCTG	uc002yzq.1	-	30	4618_4620	c.4507_4509delCAG	c.(4507-4509)cagdel	p.Q1503del	PRDM15_uc002yzo.3_In_Frame_Del_p.Q1174del|PRDM15_uc002yzp.3_In_Frame_Del_p.Q1194del|PRDM15_uc002yzr.1_In_Frame_Del_p.Q1194del	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1503	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGCTGTACATCTGCTGCTGCTGC	0.611													---	583	---	---	9	---					
PWP2	5822	broad.mit.edu	37	21	45535692	45535694	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr21:45535692_45535694delGAG	uc002zeb.3	+	6	817_819	c.727_729delGAG	c.(727-729)gagdel	p.E247del		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	247	Poly-Glu.					cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ggaggaggaagaggaggaggagg	0.640													---	258	---	---	7	---					
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr21:46276194_46276196delGCA	uc002zgb.2	-	3	648_650	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_uc011afk.2_Intron	NM_004339	NP_004330	P53801	PTTG_HUMAN	Homo sapiens pituitary tumor-transforming 1 interacting protein (PTTG1IP), mRNA.	121	Poly-Cys.				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616													---	468	---	---	24	---					
COL18A1	80781	broad.mit.edu	37	21	46911183	46911183	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr21:46911183delC	uc002zhi.3	+	20	2673	c.2652delC	c.(2650-2652)ggcfs	p.G884fs	COL18A1_uc002zhg.3_Frame_Shift_Del_p.G704fs	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1119	Nonhelical region 3 (NC3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCTCCCTGGCCCCCCCGGAC	0.692													---	365	---	---	7	---					
CCT8L2	150160	broad.mit.edu	37	22	17071787	17071787	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:17071787delT	uc002zlp.1	-	0	1914	c.1654delA	c.(1654-1656)atcfs	p.I552fs		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	552					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AATCCAAGGATTTTTTTTGTT	0.408													---	772	---	---	9	---					
MED15	51586	broad.mit.edu	37	22	20918916	20918918	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:20918916_20918918delCAG	uc002zsp.3	+	5	711_713	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_uc002zsn.1_In_Frame_Del_p.Q137del|MED15_uc002zso.2_In_Frame_Del_p.Q147del|MED15_uc002zsq.3_In_Frame_Del_p.Q218del|MED15_uc010gso.3_In_Frame_Del_p.Q218del|MED15_uc002zsr.3_In_Frame_Del_p.Q192del|MED15_uc011ahs.2_In_Frame_Del_p.Q192del|MED15_uc011aht.1_In_Frame_Del_p.Q192del|MED15_uc002zss.3_In_Frame_Del_p.Q137del|MED15_uc011ahu.2_5'Flank	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	218	Poly-Gln.			Missing (in Ref. 4; CAG30423).	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)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	166	---	---	8	---					
TFIP11	24144	broad.mit.edu	37	22	26906183	26906185	+	In_Frame_Del	DEL	TCA	-	-	rs145794160	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:26906183_26906185delTCA	uc003acr.2	-	2	428_430	c.54_56delTGA	c.(52-57)gatgac>gac	p.18_19DD>D	TFIP11_uc003acs.2_In_Frame_Del_p.18_19DD>D|TFIP11_uc003act.2_In_Frame_Del_p.18_19DD>D	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	18	Poly-Asp.				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTCCCGCTCGTCATCATCATCAT	0.532													---	587	---	---	9	---					
GAS2L1	10634	broad.mit.edu	37	22	29708089	29708089	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:29708089delC	uc003afa.1	+	6	1845	c.1646delC	c.(1645-1647)gccfs	p.A549fs	GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Frame_Shift_Del_p.A549fs|GAS2L1_uc003afd.1_3'UTR|GAS2L1_uc003afe.1_3'UTR	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	550					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCAGCTCGGGCCCCCGACCCT	0.647													---	2412	---	---	7	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	-	-	rs141985009	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:30742328_30742330delCTG	uc003ahl.3	-	2	496_498	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_uc021wnt.1_Intron	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein 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													---	857	---	---	15	---					
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:36689419_36689421delCCT	uc003apg.3	-	29	4280_4282	c.4049_4051delAGG	c.(4048-4053)gaggcc>gcc	p.E1350del		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1350				E -> EE (in Ref. 7).	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.650			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				---	595	---	---	7	---					
SREBF2	6721	broad.mit.edu	37	22	42271637	42271637	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:42271637delC	uc003bbi.3	+	6	1464	c.1295delC	c.(1294-1296)tccfs	p.S432fs	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	432	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTTCTGATGTCCCCCCCAGCC	0.522													---	879	---	---	7	---					
C22orf32	91689	broad.mit.edu	37	22	42478046	42478048	+	In_Frame_Del	DEL	GAT	-	-	rs141840500		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:42478046_42478048delGAT	uc003bca.3	+	1	382_384	c.304_306delGAT	c.(304-306)gatdel	p.D107del		NM_033318	NP_201575	Q9H4I9	CV032_HUMAN	Homo sapiens chromosome 22 open reading frame 32 (C22orf32), mRNA.	107	Asp/Glu-rich.					integral to membrane|mitochondrion				ovary(1)	1						TGTTCCAGAGGATGATGATGATG	0.478													---	798	---	---	7	---					
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:42610573_42610575delAGG	uc003bcj.1	-	0	871_873	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_uc003bck.1_In_Frame_Del_p.S246del	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	246	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507													---	698	---	---	20	---					
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:42610776_42610778delTGC	uc003bcj.1	-	0	668_670	c.534_536delGCA	c.(532-537)cagcaa>caa	p.178_179QQ>Q	TCF20_uc003bck.1_In_Frame_Del_p.178_179QQ>Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	178	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571													---	507	---	---	18	---					
TCF20	6942	broad.mit.edu	37	22	42610948	42610948	+	Frame_Shift_Del	DEL	G	-	-	rs138734341		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:42610948delG	uc003bcj.1	-	0	498	c.364delC	c.(364-366)cagfs	p.Q122fs	TCF20_uc003bck.1_Frame_Shift_Del_p.Q122fs	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTCCCCTGGGGGGGTCCA	0.567													---	1210	---	---	7	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:43213780delT	uc003bdd.2	-	9	1116	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_uc010gzf.2_Frame_Shift_Del_p.N255fs|ARFGAP3_uc011apu.1_Frame_Shift_Del_p.N227fs	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363													---	1374	---	---	21	---					
ARFGAP3	26286	broad.mit.edu	37	22	43218401	43218401	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:43218401delT	uc003bdd.2	-	8	907	c.687delA	c.(685-687)aaafs	p.K229fs	ARFGAP3_uc010gzf.2_Frame_Shift_Del_p.K185fs|ARFGAP3_uc011apu.1_Frame_Shift_Del_p.K157fs	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	229					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CCAAACTTCCTTTTTTGGCCC	0.423													---	1084	---	---	7	---					
FRMPD4	9758	broad.mit.edu	37	X	12516889	12516889	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:12516889delC	uc004cuz.2	+	1	638	c.132delC	c.(130-132)aacfs	p.N44fs	FRMPD4_uc011mij.2_Frame_Shift_Del_p.N36fs	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	44	WW.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGACGGCAAACCGAGATGGGC	0.507													---	165	---	---	7	---					
TAF1	6872	broad.mit.edu	37	X	70603000	70603000	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:70603000delA	uc004dzu.4	+	11	1981	c.1930delA	c.(1930-1932)aaafs	p.K644fs	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Frame_Shift_Del_p.K665fs	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	644					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAAGCACATCAAAAAAAAGGC	0.408													---	194	---	---	7	---					
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:119694117_119694119delGAG	uc004esw.3	-	2	866_868	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_uc004esv.3_In_Frame_Del_p.125_126SS>S	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	143	Ser-rich.				DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488													---	214	---	---	9	---					
MAGEC1	9947	broad.mit.edu	37	X	140994639	140994641	+	In_Frame_Del	DEL	CTC	-	-	rs144357389	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:140994639_140994641delCTC	uc004fbt.3	+	3	1773_1775	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_In_Frame_Del_p.142_143SS>S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	483							protein binding	p.V482V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)			---	972	---	---	7	---					
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:149639633_149639635delGCA	uc011mxu.2	+	2	2023_2025	c.1713_1715delGCA	c.(1711-1716)ctgcag>ctg	p.Q581del	MAMLD1_uc011mxt.1_In_Frame_Del_p.Q568del|MAMLD1_uc004fee.2_In_Frame_Del_p.Q606del|MAMLD1_uc011mxv.2_In_Frame_Del_p.Q581del|MAMLD1_uc011mxw.2_In_Frame_Del_p.Q533del	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	606					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611													---	302	---	---	7	---					
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	-	-	rs7877654	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:149937526_149937528delGGC	uc004fek.3	-	11	1026_1028	c.798_800delGCC	c.(796-801)ccgccc>ccc	p.266_267PP>P	CD99L2_uc011myb.2_In_Frame_Del_p.183_184PP>P|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_In_Frame_Del_p.256_257PP>P|CD99L2_uc004fem.3_In_Frame_Del_p.207_208PP>P|CD99L2_uc004fen.3_In_Frame_Del_p.184_185PP>P	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	256					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													---	544	---	---	9	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:150817142_150817144delGCT	uc004fev.4	+	8	1017_1019	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)|p.A235D(1)		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													---	438	---	---	13	---					
