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
PRUNE2	158471	broad.mit.edu	37	9	79319818	79319818	+	Silent	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:79319818G>A	uc010mpk.3	-	7	7496	c.7372C>T	c.(7372-7374)Ctg>Ttg	p.L2458L	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Silent_p.L2280L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2458					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGAATATGCAGCACAGCCAGC	0.493000											OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		80			3		0	0	0.004672	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890639	32890639	+	Missense_Mutation	SNP	T	C	C	rs79284655		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr16:32890639T>C	uc002edh.1	-	4	423	c.247A>G	c.(247-249)Aag>Gag	p.K83E	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		ACCAGCGGCTTGTAGTACACA	0.627000														169			5		0	0	0.001984	0	0
GDPD5	81544	broad.mit.edu	37	11	75152278	75152278	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:75152278G>A	uc001owo.4	-	14	1940	c.1403C>T	c.(1402-1404)gCg>gTg	p.A468V	GDPD5_uc001owp.4_Missense_Mutation_p.A468V|GDPD5_uc001own.4_Missense_Mutation_p.A223V|GDPD5_uc009yuc.3_Missense_Mutation_p.A330V|GDPD5_uc009yud.3_Missense_Mutation_p.A349V	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	468	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	p.A468V(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TGGGACCCCCGCACACCACAG	0.657000														267			15		0	0	0.006122	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764634	140764634	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:140764634G>A	uc003lka.2	+	0	2168	c.2168G>A	c.(2167-2169)cGc>cAc	p.R723H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lkb.4_5'Flank|PCDHGC5_uc003lkc.2_5'Flank|PCDHGC5_uc003ljz.1_Missense_Mutation_p.R723H	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	715					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAAGTCACGCCTGCTGCAG	0.627000														306			25		0	0	0.003330	0	0
USP15	9958	broad.mit.edu	37	12	62715327	62715327	+	Silent	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:62715327C>T	uc001src.2	+	4	633	c.558C>T	c.(556-558)aaC>aaT	p.N186N	USP15_uc001srb.2_Silent_p.N186N|USP15_uc001sra.3_Silent_p.N186N	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	186					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACATGAGTAACACATTTGAAC	0.333000														227			27		0	0	0.007291	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678109	48678109	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:48678109C>T	uc002irk.1	+	17	4085	c.3713C>T	c.(3712-3714)gCg>gTg	p.A1238V	CACNA1G_uc002iri.1_Missense_Mutation_p.A1238V|CACNA1G_uc002irj.1_Missense_Mutation_p.A1215V|CACNA1G_uc002irl.1_Missense_Mutation_p.A1215V|CACNA1G_uc002irm.1_Missense_Mutation_p.A1215V|CACNA1G_uc002irn.1_Missense_Mutation_p.A1215V|CACNA1G_uc002iro.1_Missense_Mutation_p.A1215V|CACNA1G_uc002irp.1_Missense_Mutation_p.A1238V|CACNA1G_uc002irq.1_Missense_Mutation_p.A1215V|CACNA1G_uc002irr.1_Missense_Mutation_p.A1238V|CACNA1G_uc002irs.1_Missense_Mutation_p.A1238V|CACNA1G_uc002irt.1_Missense_Mutation_p.A1238V|CACNA1G_uc002iru.1_Missense_Mutation_p.A1215V|CACNA1G_uc002irv.1_Missense_Mutation_p.A1238V|CACNA1G_uc002irw.1_Missense_Mutation_p.A1215V|CACNA1G_uc002irx.1_Missense_Mutation_p.A1151V|CACNA1G_uc002iry.1_Missense_Mutation_p.A1151V|CACNA1G_uc002isg.1_Missense_Mutation_p.A1151V|CACNA1G_uc002ish.1_Missense_Mutation_p.A1151V|CACNA1G_uc002isi.1_Missense_Mutation_p.A1128V|CACNA1G_uc002irz.1_Missense_Mutation_p.A1151V|CACNA1G_uc002isa.1_Missense_Mutation_p.A1151V|CACNA1G_uc002isd.1_Missense_Mutation_p.A1151V|CACNA1G_uc002isb.1_Missense_Mutation_p.A1151V|CACNA1G_uc002isc.1_Missense_Mutation_p.A1151V|CACNA1G_uc002ise.1_Missense_Mutation_p.A1151V|CACNA1G_uc002isf.1_Missense_Mutation_p.A1151V|CACNA1G_uc002isj.3_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1238					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGGTCCGCGCGTGGATCCGA	0.627000														526			16		0	0	0.006122	0	0
AK310441	0	broad.mit.edu	37	1	148882025	148882025	+	RNA	SNP	C	T	T	rs150449871	by1000genomes	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:148882025C>T	uc009wkv.1	+	2		c.246C>T								Homo sapiens cDNA, FLJ17483.																		TGTTTTCTAGCAGTGACAAAT	0.343000														453			9		0	0	0.004482	0	0
LOC440905	440905	broad.mit.edu	37	2	130786063	130786063	+	RNA	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:130786063G>A	uc002tpy.1	-	0		c.3429C>T			LOC440905_uc002tpz.2_Intron					Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		AAACCTGGGGGAAAAAAGAGA	0.423000														22			4		0	0	0.003163	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:150156360G>A	uc004fep.3	+	4	668	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.E192E	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(2)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000														355			7		0	0	0.004482	0	0
FLNA	2316	broad.mit.edu	37	X	153581753	153581753	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:153581753G>T	uc004fkk.2	-	36	6182	c.5933C>A	c.(5932-5934)aCg>aAg	p.T1978K	FLNA_uc011mzn.1_Missense_Mutation_p.T111K|FLNA_uc010nuu.1_Missense_Mutation_p.T1970K	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1978					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGAGATCCGTCTCTGAGAT	0.632000														447			31		8.16721e-17	8.60032e-17	0.010818	1	0
SMAD4	4089	broad.mit.edu	37	18	48575132	48575132	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr18:48575132T>A	uc010xdp.2	+	2	864	c.326T>A	c.(325-327)cTa>cAa	p.L109Q	SMAD4_uc010xdo.1_Non-coding_Transcript	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	109	MH1.				BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AAAAATGAACTAAAACATGTT	0.393000														379			33		0	0	0.004878	0	0
NLRP8	126205	broad.mit.edu	37	19	56466153	56466153	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:56466153C>A	uc002qmh.3	+	2	800	c.729C>A	c.(727-729)ttC>ttA	p.F243L	NLRP8_uc010etg.3_Missense_Mutation_p.F243L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	243	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTTCTACTTCCATTGCCAAG	0.507000														617			119		1.24098e-62	1.33718e-62	0.014410	1	0
ITGA3	3675	broad.mit.edu	37	17	48151552	48151552	+	Silent	SNP	C	T	T	rs78768954	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:48151552C>T	uc010dbm.3	+	8	1754	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	ITGA3_uc010dbl.3_Silent_p.F430F	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	430					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGGCCACCTTCGGCTATTCCC	0.612000														870			15		0	0	0.007413	0	0
C14orf102	55051	broad.mit.edu	37	14	90770393	90770393	+	Silent	SNP	G	A	A	rs147340971		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr14:90770393G>A	uc001xyi.2	-	4	1124	c.891C>T	c.(889-891)gaC>gaT	p.D297D	C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.2_Silent_p.D66D	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	297							protein binding	p.P296Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		CTGGCTGTGCGTCTGGCTGCT	0.547000														630			60		0	0	0.014410	0	0
abParts	0	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr22:22664743G>A	uc021wml.1	+	32		c.2843G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CAGACTAAAGGCAAACAAGGA	0.498000														170			5		0	0	0.001984	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717016	13717016	+	Silent	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:13717016G>A	uc001rbt.2	-	12	3335	c.3156C>T	c.(3154-3156)caC>caT	p.H1052H		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1052					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCAAGTCGTCGTGGCCACTGT	0.572000														153			15		0	0	0.002450	0	0
AURKA	6790	broad.mit.edu	37	20	54945655	54945655	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr20:54945655C>T	uc002xxe.1	-	8	1172	c.915G>A	c.(913-915)atG>atA	p.M305I	AURKA_uc002xxf.1_Missense_Mutation_p.M305I|AURKA_uc002xxg.1_Missense_Mutation_p.M305I|AURKA_uc002xxh.1_Missense_Mutation_p.M305I|AURKA_uc002xxi.1_Missense_Mutation_p.M305I|AURKA_uc002xxj.1_Missense_Mutation_p.M305I|AURKA_uc010zzd.1_Non-coding_Transcript|AURKA_uc002xxd.1_Missense_Mutation_p.M305I	NM_198434	NP_940839	O14965	AURKA_HUMAN	Homo sapiens aurora kinase A (AURKA), transcript variant 3, mRNA.	305	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TCTCATCATGCATCCGACCTT	0.498000														309			31		0	0	0.009535	0	0
NUAK2	81788	broad.mit.edu	37	1	205273591	205273591	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:205273591C>T	uc001hce.3	-	6	1001	c.874G>A	c.(874-876)Gcc>Acc	p.A292T		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	292	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCCAGGGTGGCCCGGCGGGTG	0.637000														71			4		0	0	0.000602	0	0
LRRK1	79705	broad.mit.edu	37	15	101593294	101593294	+	Splice_Site	SNP	G	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr15:101593294G>T	uc002bwr.3	+	25	4175	c.3856_splice	c.e25+1	p.D1286_splice	LRRK1_uc010usb.2_Splice_Site|LRRK1_uc010usc.2_Splice_Site|LRRK1_uc002bws.3_5'Flank	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1286	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTACCGGCAGGTAAGCGGGTC	0.582000														166			16		1.5739e-10	1.62053e-10	0.004007	1	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:106820975C>T	uc001tlp.3	+	13	1324	c.1102_splice	c.e13-1	p.L368_splice	POLR3B_uc001tlq.3_Splice_Site_p.L310_splice	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274000														48			7		0	0	0.006214	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262047	39262047	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:39262047A>G	uc010wfp.2	+	0	407	c.407A>G	c.(406-408)aAg>aGg	p.K136R		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	136	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						agctgctgcaagccccagtgc	0.652000														251			7		0	0	0.006122	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431928	140431928	+	Silent	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:140431928G>A	uc003lik.1	+	0	950	c.873G>A	c.(871-873)acG>acA	p.T291T		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	291	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T291T(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCAAGACGTTTCAGATTG	0.468000														278			28		0	0	0.007291	0	0
PTPRU	10076	broad.mit.edu	37	1	29630479	29630479	+	Silent	SNP	G	A	A	rs145675393		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:29630479G>A	uc001bru.3	+	16	2748	c.2619G>A	c.(2617-2619)gcG>gcA	p.A873A	PTPRU_uc009vtq.3_Silent_p.A863A|PTPRU_uc009vtr.3_Silent_p.A863A|PTPRU_uc001brw.3_Silent_p.A863A	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	873	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCACCCTGCGGTGCGTGTCG	0.687000														322			8		0	0	0.008871	0	0
TNC	3371	broad.mit.edu	37	9	117849313	117849313	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:117849313T>C	uc004bjj.4	-	2	1109	c.697A>G	c.(697-699)Aat>Gat	p.N233D	TNC_uc010mvf.3_Missense_Mutation_p.N233D|TNC_uc022bmj.1_Missense_Mutation_p.N233D	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	233	EGF-like 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGACTCCATTTACGCACTTG	0.602000														361			22		0	0	0.002780	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	264014	264014	+	RNA	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrGL000192.1:264014C>T	uc010yij.1	-	12		c.2042G>A				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)				ATGTTCTTTACGGCCAAGGGC	0.423000														282			9		0	0	0.004482	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:2062350C>G	uc001qjx.1	-	6	836	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_uc010sdy.1_Missense_Mutation_p.Q150H	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(16)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000														229			6		0	0	0.001984	0	0
SPACA3	124912	broad.mit.edu	37	17	31322436	31322436	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:31322436C>T	uc002hhs.1	+	1	119	c.44C>T	c.(43-45)tCa>tTa	p.S15L	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	15					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GGGGTGCACTCAAGCCCTGTT	0.607000														422			26		0	0	0.007291	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735745	12735745	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:12735745C>T	uc004cuz.2	+	15	3306	c.2800C>T	c.(2800-2802)Cgc>Tgc	p.R934C	FRMPD4_uc011mij.2_Missense_Mutation_p.R926C	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	934					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						AAACCTCTCCCGCATGTTCTT	0.547000														791			76		0	0	0.014410	0	0
FBXO47	494188	broad.mit.edu	37	17	37119246	37119246	+	Missense_Mutation	SNP	C	G	G	rs140430888	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:37119246C>G	uc002hrc.2	-	1	233	c.33G>C	c.(31-33)ttG>ttC	p.L11F		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	Homo sapiens F-box protein 47 (FBXO47), mRNA.	11										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GGTTGGGAATCAAAGTGAAAT	0.363000														624			143		0	0	0.014410	0	0
DSCAML1	57453	broad.mit.edu	37	11	117387200	117387200	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:117387200C>T	uc001prh.1	-	7	1947	c.1945G>A	c.(1945-1947)Gtt>Att	p.V649I		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	589	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTACGTGAACGCTCTGGCTG	0.632000														301			15		0	0	0.004007	0	0
CCR4	1233	broad.mit.edu	37	3	32995416	32995416	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr3:32995416G>A	uc003cfg.1	+	1	670	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	CCR4_uc021wuw.1_Missense_Mutation_p.A168T	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	168					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		p.F167F(2)		NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GGCTGTGTTCGCCTCCCTTCC	0.502000														467			10		0	0	0.006214	0	0
FAM208B	54906	broad.mit.edu	37	10	5788328	5788328	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr10:5788328G>A	uc001iij.3	+	14	3569	c.2944G>A	c.(2944-2946)Gat>Aat	p.D982N	FAM208B_uc001iik.3_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	982																	CAGGACTTACGATGGGCCTGG	0.468000														353			27		0	0	0.006320	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	A	A	rs142860004	by1000genomes	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr13:25168489G>A	uc001upm.3	+	9		c.1161G>A			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TGAAAGTGCAGTTTTTCTCTT	0.363000														170			4		0	0	0.008291	0	0
GPR179	440435	broad.mit.edu	37	17	36486065	36486065	+	Silent	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:36486065C>T	uc002hpz.3	-	10	3408	c.3387G>A	c.(3385-3387)tcG>tcA	p.S1129S		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1129						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTAGCCTGGGCGATCGGGAGG	0.627000														564			14		0	0	0.001855	0	0
CEL	1056	broad.mit.edu	37	9	135946986	135946986	+	Silent	SNP	G	C	C			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:135946986G>C	uc010naa.1	+	10	2122	c.2106G>C	c.(2104-2106)ggG>ggC	p.G702G		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	699	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				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)		GTGACTCCGGGGCCCCCCCCG	0.826000														24			3		0	0	0.009096	0	0
ADORA3	140	broad.mit.edu	37	1	112043018	112043018	+	Missense_Mutation	SNP	C	T	T	rs139935750	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:112043018C>T	uc001ebh.4	-	1	1278	c.511G>A	c.(511-513)Gtc>Atc	p.V171I	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	171					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.V171V(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ATTCTCATGACGGAAACAAAT	0.453000														790			13		0	0	0.001855	0	0
DSP	1832	broad.mit.edu	37	6	7576570	7576570	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:7576570C>T	uc003mxp.1	+	18	2953	c.2674C>T	c.(2674-2676)Cgt>Tgt	p.R892C	DSP_uc003mxq.1_Missense_Mutation_p.R892C|DSP_uc021yle.1_Missense_Mutation_p.R892C	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	892	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGGAATTATCGTGATAACTA	0.388000														354			9		0	0	0.010729	0	0
MICAL2	9645	broad.mit.edu	37	11	12278458	12278458	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:12278458C>T	uc001mjz.3	+	23	3370	c.3082C>T	c.(3082-3084)Cgc>Tgc	p.R1028C	MICAL2_uc010rch.1_Missense_Mutation_p.R838C|MICAL2_uc001mka.3_Missense_Mutation_p.R1028C|MICAL2_uc010rci.2_Missense_Mutation_p.R1007C|MICAL2_uc001mkb.3_Missense_Mutation_p.R802C|MICAL2_uc001mkc.3_Missense_Mutation_p.R781C|MICAL2_uc001mkd.3_Missense_Mutation_p.R610C|MICAL2_uc010rcj.2_Missense_Mutation_p.R240C|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	1028	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GGAGTGTTTCCGCTGCAGCAT	0.607000														305			29		0	0	0.008361	0	0
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr3:129695840G>A	uc003enc.3	+	2	1071	c.510G>A	c.(508-510)gaG>gaA	p.E170E		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	170					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.E170E(2)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642000														245			6		0	0	0.001168	0	0
LRFN2	57497	broad.mit.edu	37	6	40399611	40399611	+	Silent	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:40399611G>A	uc003oph.1	-	1	1707	c.1242C>T	c.(1240-1242)ggC>ggT	p.G414G		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	414						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGGCTCTCCGCCCCCACTGC	0.652000														290			33		0	0	0.012213	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028724	13028724	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:13028724G>A	uc010sho.2	+	0	314	c.292G>A	c.(292-294)Gct>Act	p.A98T						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		AGGCCAGGCCGCTCTGGACTG	0.637000														81			4		0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	G	G			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:9090831A>G	uc002mkp.3	-	0	1188	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522000														433			7		0	0	0.001984	0	0
PRKRA	8575	broad.mit.edu	37	2	179300952	179300952	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:179300952C>A	uc002umf.3	-	6	905	c.704G>T	c.(703-705)aGt>aTt	p.S235I	MIR548N_uc021vsx.1_Intron|PRKRA_uc002umc.3_Missense_Mutation_p.S67I|PRKRA_uc002umd.3_Missense_Mutation_p.S210I|PRKRA_uc002ume.3_Missense_Mutation_p.S224I|PRKRA_uc002umg.3_Missense_Mutation_p.S122I|PRKRA_uc002umh.1_5'Flank	NM_003690	NP_001132990	O75569	PRKRA_HUMAN	Homo sapiens protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA), transcript variant 1, mRNA.	235	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ATTTGGAATACTAAGGAGGCT	0.338000														790			26		3.33393e-15	3.48434e-15	0.004878	1	0
TULP1	7287	broad.mit.edu	37	6	35477678	35477678	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:35477678G>A	uc003okv.4	-	5	539	c.527C>T	c.(526-528)cCg>cTg	p.P176L	TULP1_uc003okw.4_Missense_Mutation_p.P123L|TULP1_uc021yyx.1_Missense_Mutation_p.P176L|TULP1_uc021yyy.1_Missense_Mutation_p.P176L	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	176					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			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGAGGTTTCGGTGGGGGGTC	0.567000														569			9		0	0	0.006214	0	0
BC101079	0	broad.mit.edu	37	15	102292832	102292832	+	Silent	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr15:102292832G>A	uc010usj.2	+	3	479	c.420G>A	c.(418-420)tcG>tcA	p.S140S	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.																		GAAGACACTCGTGGAGGCGTC	0.597000														77			3		0	0	0.001168	0	0
MYO10	4651	broad.mit.edu	37	5	16694499	16694499	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:16694499C>T	uc003jft.4	-	26	4249	c.3781G>A	c.(3781-3783)Gta>Ata	p.V1261I	MYO10_uc011cnc.2_Missense_Mutation_p.V140I|MYO10_uc011cnd.2_Missense_Mutation_p.V618I|MYO10_uc011cne.2_Missense_Mutation_p.V618I|MYO10_uc010itx.3_Missense_Mutation_p.V884I	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1261	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGCACTTCTACGGTGCCCTTG	0.537000														739			52		0	0	0.014410	0	0
SDK1	221935	broad.mit.edu	37	7	4185418	4185418	+	Silent	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr7:4185418C>T	uc003smx.3	+	28	4432	c.4293C>T	c.(4291-4293)ggC>ggT	p.G1431G	SDK1_uc010kso.3_Silent_p.G707G|SDK1_uc003smy.3_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1431	Fibronectin type-III 8.				cell adhesion	integral to membrane		p.V1430G(1)|p.G1431S(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGAGGTCGGCGCCACAGTGA	0.667000														368			26		0	0	0.005443	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000														49			3		0	0	0.004672	0	0
PPEF1	5475	broad.mit.edu	37	X	18797154	18797154	+	Silent	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:18797154G>A	uc004cyq.3	+	9	1066	c.585G>A	c.(583-585)ccG>ccA	p.P195P	PPEF1_uc004cyp.3_Silent_p.P195P|PPEF1_uc004cyr.3_Silent_p.P195P|PPEF1_uc004cys.3_Silent_p.P195P|PPEF1_uc011mja.2_Silent_p.P130P|PPEF1_uc011mjb.2_Silent_p.P139P	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	195	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.P195Q(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGAGGAACCCGTATGTTTTTA	0.408000														715			59		0	0	0.014410	0	0
NTRK1	4914	broad.mit.edu	37	1	156849848	156849848	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:156849848C>T	uc001fqh.1	+	15	2160	c.2104C>T	c.(2104-2106)Cgt>Tgt	p.R702C	NTRK1_uc001fqf.1_Missense_Mutation_p.R666C|NTRK1_uc009wsi.1_Missense_Mutation_p.R401C|NTRK1_uc001fqi.1_Missense_Mutation_p.R696C|NTRK1_uc009wsk.1_Missense_Mutation_p.R699C	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	702	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CATCCTGTACCGTAAGTTCAC	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				405			47		0	0	0.011902	0	0
PER1	5187	broad.mit.edu	37	17	8047060	8047060	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:8047060T>G	uc002gkd.3	-	18	2834	c.2596A>C	c.(2596-2598)Acc>Ccc	p.T866P	PER1_uc010cns.3_5'Flank|PER1_uc010vuq.2_Intron	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	866	Pro-rich.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.T866P(2)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCCAGGGGGTGGAGGGTGGC	0.667000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						68			11		0	0	0.002780	0	0
ODZ3	55714	broad.mit.edu	37	4	183713474	183713474	+	Silent	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr4:183713474C>T	uc003ivd.1	+	24	5724	c.5649C>T	c.(5647-5649)taC>taT	p.Y1883Y		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1883					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TCTTCGAATACGATATGTGGG	0.498000														378			26		0	0	0.006320	0	0
AK301679	0	broad.mit.edu	37	17	18343437	18343437	+	RNA	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:18343437G>A	uc010vya.1	+	0		c.216G>A								Homo sapiens cDNA FLJ56791 complete cds, highly similar to Keratin, type I cytoskeletal 16.																		CAGCACCTACGGGGGGGCCTG	0.692000														16			5		0	0	0.001168	0	0
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:112058796C>T	uc004epr.3	-	1	1200	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_uc004eps.3_5'UTR|AMOT_uc004ept.1_Silent_p.Q394Q	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	394					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582000														202			6		0	0	0.001168	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627428	43627428	+	Missense_Mutation	SNP	G	A	A	rs11261835	by1000genomes	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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														540			13		0	0	0.013537	0	0
PTPRU	10076	broad.mit.edu	37	1	29630460	29630460	+	Missense_Mutation	SNP	C	T	T	rs146215972		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:29630460C>T	uc001bru.3	+	16	2729	c.2600C>T	c.(2599-2601)aCg>aTg	p.T867M	PTPRU_uc009vtq.3_Missense_Mutation_p.T857M|PTPRU_uc009vtr.3_Missense_Mutation_p.T857M|PTPRU_uc001brw.3_Missense_Mutation_p.T857M	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	867	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCATACCACACGGGGCAGCTG	0.662000														308			8		0	0	0.002450	0	0
CASP8	841	broad.mit.edu	37	2	202131315	202131315	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:202131315G>T	uc002uxr.1	+	2	315	c.106G>T	c.(106-108)Gaa>Taa	p.E36*	CASP8_uc010ftc.1_Nonsense_Mutation_p.E36*|CASP8_uc002uxo.1_Nonsense_Mutation_p.E36*|CASP8_uc002uxq.1_Nonsense_Mutation_p.E36*|CASP8_uc002uxp.1_Nonsense_Mutation_p.E36*|CASP8_uc002uxs.1_Nonsense_Mutation_p.E36*|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Nonsense_Mutation_p.E95*|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Nonsense_Mutation_p.E36*|CASP8_uc002uxw.1_Nonsense_Mutation_p.E36*|CASP8_uc021vuy.1_Nonsense_Mutation_p.E36*|CASP8_uc021vuz.1_Nonsense_Mutation_p.E36*|CASP8_uc021vva.1_Nonsense_Mutation_p.E36*|CASP8_uc010ftf.2_Nonsense_Mutation_p.E36*	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	36	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AAGGAAGCAAGAACCCATCAA	0.468000										HNSCC(4;0.00038)				270			30		1.30988e-24	1.40056e-24	0.010818	1	0
GJB1	2705	broad.mit.edu	37	X	70444246	70444246	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:70444246G>A	uc022byr.1	+	0	689	c.689G>A	c.(688-690)cGc>cAc	p.R230H	BCYRN1_uc011mpt.1_Intron|GJB1_uc004dzf.3_Missense_Mutation_p.R230H|GJB1_uc004dzg.3_Missense_Mutation_p.R230H	NM_001097642	NP_001091111	P08034	CXB1_HUMAN	Homo sapiens gap junction protein, beta 1, 32kDa (GJB1), transcript variant 1, mRNA.	230			R -> C (in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques).|R -> L (in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques).		cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					CCACCTTCCCGCAAGGGCTCG	0.602000														161			9		0	0	0.004482	0	0
ZNF486	90649	broad.mit.edu	37	19	20308264	20308264	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:20308264T>A	uc002nou.2	+	3	802	c.745T>A	c.(745-747)Tac>Aac	p.Y249N		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AGTCTTTAAGTACTTCTCTAG	0.393000														267			23		0	0	0.012319	0	0
HOXD13	3239	broad.mit.edu	37	2	176959381	176959381	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:176959381C>T	uc002ukf.1	+	1	1042	c.955C>T	c.(955-957)Caa>Taa	p.Q319*		NM_000523	NP_000514	P35453	HXD13_HUMAN	Homo sapiens homeobox D13 (HOXD13), mRNA.	319					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		ATCTGAGAGACAAGTGACCAT	0.463000			T	NUP98	AML*									328			17		0	0	0.006122	0	0
DNAH11	8701	broad.mit.edu	37	7	21659575	21659575	+	Splice_Site	SNP	T	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr7:21659575T>A	uc003svc.3	+	25	4424	c.4393_splice	c.e25-1	p.V1465_splice		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1465	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATTACTAGGTTATTACTGAA	0.294000									Kartagener syndrome					328			11		0	0	0.008291	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725480	140725480	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:140725480G>A	uc003ljm.2	+	0	1880	c.1880G>A	c.(1879-1881)cGc>cAc	p.R627H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.R627H	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	629	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGGTGCGCACGGCGCGA	0.697000														284			21		0	0	0.008361	0	0
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr15:33962623T>G	uc001zhi.3	+	37	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_uc010bar.3_Missense_Mutation_p.V1909G	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1909	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V1909G(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.473000														85			20		0	0	0.013114	0	0
BC039483	0	broad.mit.edu	37	GL000219.1	45506	45506	+	RNA	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrGL000219.1:45506G>A	uc011mfo.2	+	0		c.110G>A								Homo sapiens, clone IMAGE:5538248, mRNA.																		ATCTAGGAAAGGTTGTGCCTT	0.587000														13			3		0	0	0.000602	0	0
GPR50	9248	broad.mit.edu	37	X	150349744	150349744	+	Silent	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:150349744G>A	uc010ntg.2	+	1	1827	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	563	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.S563S(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCTGAGTCGGCCTCTAGCC	0.622000														676			10		0	0	0.008291	0	0
EFTUD2	9343	broad.mit.edu	37	17	42961062	42961062	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:42961062C>G	uc002ihn.2	-	4	642	c.381G>C	c.(379-381)gaG>gaC	p.E127D	EFTUD2_uc010wje.1_Missense_Mutation_p.E92D|EFTUD2_uc010wjf.1_Missense_Mutation_p.E127D	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	127						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTCTGATGAGCTCTGAGTTAT	0.438000														331			30		0	0	0.009535	0	0
HEATR5A	25938	broad.mit.edu	37	14	31785103	31785103	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr14:31785103C>T	uc001wrf.4	-	26	4276	c.4091G>A	c.(4090-4092)cGa>cAa	p.R1364Q	HEATR5A_uc010ami.3_Missense_Mutation_p.R969Q	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1358							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ATGAACTCTTCGGAGATCATT	0.343000														63			4		0	0	0.009096	0	0
SLC2A1	6513	broad.mit.edu	37	1	43395354	43395354	+	Silent	SNP	G	A	A	rs78388808	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:43395354G>A	uc001cik.2	-	5	1302	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	259					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	ACAGCTCCAGGATGGTGACCT	0.612000														624			10		0	0	0.006214	0	0
ITIH6	347365	broad.mit.edu	37	X	54784236	54784236	+	Silent	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:54784236C>T	uc004dtj.2	-	7	2301	c.2271G>A	c.(2269-2271)agG>agA	p.R757R		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	757	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GGACTTGTGTCCTGGAGTTCG	0.512000														565			23		0	0	0.002780	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415641	19415641	+	RNA	SNP	A	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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														120			6		0	0	0.001168	0	0
PTPN14	5784	broad.mit.edu	37	1	214556939	214556939	+	Silent	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:214556939G>A	uc001hkk.2	-	12	2912	c.2259C>T	c.(2257-2259)ccC>ccT	p.P753P	PTPN14_uc021piy.1_Silent_p.P517P|PTPN14_uc010pty.2_Silent_p.P654P	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	753					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCCTTGGACCGGGGTACTCAG	0.672000														343			10		0	0	0.008291	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725572	32725572	+	Silent	SNP	G	A	A	rs116284473	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:32725572G>A	uc003obz.2	-	3	818	c.735C>T	c.(733-735)atC>atT	p.I245I	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TGTGACGGATGATAAGGCCCA	0.557000														101			5		0	0	0.012319	0	0
NLRP8	126205	broad.mit.edu	37	19	56466562	56466562	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:56466562T>A	uc002qmh.3	+	2	1209	c.1138T>A	c.(1138-1140)Ttg>Atg	p.L380M	NLRP8_uc010etg.3_Missense_Mutation_p.L380M	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	380	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGACCAAGTCTTGAGTTTCGC	0.478000														597			16		0	0	0.004990	0	0
GAD2	2572	broad.mit.edu	37	10	26508064	26508064	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr10:26508064G>A	uc001isp.2	+	3	882	c.379G>A	c.(379-381)Gat>Aat	p.D127N	GAD2_uc009xkr.3_Missense_Mutation_p.D127N|GAD2_uc001isq.2_Missense_Mutation_p.D127N	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	127					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GAAAAGTTTCGATAGATCAAC	0.393000														533			11		0	0	0.008291	0	0
LOC440905	440905	broad.mit.edu	37	2	130786104	130786104	+	RNA	SNP	A	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:130786104A>T	uc002tpy.1	-	0		c.3388T>A			LOC440905_uc002tpz.2_Intron					Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		GGAGAATATAAGCCCATCATA	0.393000														16			3		0	0	0.001168	0	0
RRN3P3	100131998	broad.mit.edu	37	16	22448704	22448704	+	RNA	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr16:22448704G>A	uc010vbu.1	-	0		c.333C>T			RRN3P3_uc002dkp.2_Non-coding_Transcript|LOC641298_uc010bxf.3_Non-coding_Transcript					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 (RRN3P3), non-coding RNA.																		GCTTGGCCATGTCGTGTCGGG	0.716000														24			5		0	0	0.001168	0	0
TPTE	7179	broad.mit.edu	37	21	11014987	11014987	+	RNA	SNP	A	G	G			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr21:11014987A>G	uc002yis.1	-	6		c.1459T>C						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTATAGTTTCAATAGCAGACT	0.388000														217			5		0	0	0.000602	0	0
PADI3	51702	broad.mit.edu	37	1	17609365	17609365	+	Missense_Mutation	SNP	C	A	A	rs147308107		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:17609365C>A	uc001bai.3	+	15	1826	c.1786C>A	c.(1786-1788)Cac>Aac	p.H596N		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	596					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCTGGGGAAGCACCTGGGCAT	0.627000														82			7		0.00198382	0.00201278	0.001984	1	0
YJEFN3	374887	broad.mit.edu	37	19	19640211	19640211	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:19640211G>A	uc002nmt.2	+	1	170	c.98G>A	c.(97-99)aGa>aAa	p.R33K	YJEFN3_uc021uqv.1_Missense_Mutation_p.R155K|YJEFN3_uc021uqw.1_Intron|YJEFN3_uc010ecf.2_Intron|YJEFN3_uc002nmu.2_Intron	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	33										NS(1)|breast(1)|lung(3)	5						GACATGGGAAGAGCGGAGCTT	0.632000														173			14		0	0	0.006122	0	0
MGC16703	113691	broad.mit.edu	37	22	21363434	21363434	+	RNA	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr22:21363434C>T	uc002zty.4	-	2		c.1022G>A			MGC16703_uc010gss.2_Non-coding_Transcript|THAP7-AS1_uc002ztv.3_Non-coding_Transcript					Homo sapiens tubulin, alpha pseudogene (MGC16703), non-coding RNA.																		TCTGCCCAGACGACTGAGGTT	0.527000														416			8		0	0	0.003080	0	0
TRIM7	81786	broad.mit.edu	37	5	180622634	180622634	+	Silent	SNP	G	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:180622634G>T	uc003mmz.1	-	6	1135	c.1068C>A	c.(1066-1068)atC>atA	p.I356I	TRIM7_uc003mmv.1_Silent_p.I174I|TRIM7_uc003mmw.1_Silent_p.I148I|TRIM7_uc003mmy.1_Silent_p.I148I|TRIM7_uc003mmx.1_Silent_p.I148I	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	356	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CCAGAGAGAGGATGAGGCGCG	0.662000														427			13		4.14922e-12	4.30404e-12	0.004007	1	0
SYNE1	23345	broad.mit.edu	37	6	152763321	152763321	+	Silent	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:152763321C>T	uc021zhb.1	-	28	4120	c.3897G>A	c.(3895-3897)gcG>gcA	p.A1299A	SYNE1_uc003qot.4_Silent_p.A1306A|SYNE1_uc003qou.4_Silent_p.A1299A|SYNE1_uc010kjb.1_Silent_p.A1282A|SYNE1_uc003qow.3_Silent_p.A594A|SYNE1_uc003qox.1_Silent_p.A815A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1299					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.A1299A(3)|p.A1306A(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCCTGCTGCGCCTGCGCGA	0.567000										HNSCC(10;0.0054)				347			23		0	0	0.003954	0	0
OVOS2	0	broad.mit.edu	37	12	31307356	31307356	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:31307356T>C	uc010sjy.1	-	6	724	c.724A>G	c.(724-726)Aaa>Gaa	p.K242E						RecName: Full=Ovostatin homolog 2; Flags: Precursor;									p.K242E(2)				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)					ATTTGGGTTTTCCCTTGCACA	0.383000														91			3		0	0	0.001168	0	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971102	31971102	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr21:31971102C>T	uc011adc.2	-	0	92	c.92G>A	c.(91-93)cGc>cAc	p.R31H	KRTAP22-1_uc011add.2_5'Flank	NM_181604	NP_853635	Q3LI66	KRA62_HUMAN	Homo sapiens keratin associated protein 6-2 (KRTAP6-2), mRNA.	31						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						ATAGCCACAGCGCAGGCTTCC	0.562000														294			29		0	0	0.007291	0	0
XYLT1	64131	broad.mit.edu	37	16	17211716	17211716	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr16:17211716C>T	uc002dfa.3	-	10	2429	c.2344G>A	c.(2344-2346)Gtc>Atc	p.V782I		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	782					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCCAAATGACGGTCACGGTC	0.557000														379			37		0	0	0.005524	0	0
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	A	A	rs121912656		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:7577547C>A	uc002gim.2	-	6	928	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_uc002gig.1_Missense_Mutation_p.G245V|TP53_uc002gih.3_Missense_Mutation_p.G245V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113V|TP53_uc010cnf.1_Missense_Mutation_p.G113V|TP53_uc002gii.1_Missense_Mutation_p.G113V|TP53_uc010cni.1_Missense_Mutation_p.G245V|TP53_uc010cnh.1_Missense_Mutation_p.G245V|TP53_uc002gij.2_Missense_Mutation_p.G245V|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152V|TP53_uc002gio.2_Missense_Mutation_p.G113V|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.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and 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.G245S(296)|p.G245D(203)|p.G245V(124)|p.G245C(51)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245A(16)|p.G244V(14)|p.G244G(13)|p.G245R(10)|p.G244A(9)|p.0?(8)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G245fs*2(4)|p.G152V(4)|p.G244R(4)|p.G245G(3)|p.G152D(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.G245E(2)|p.C242_M246>L(2)|p.S241_G245delSCMGG(2)|p.C238_M246delCNSSCMGGM(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245fs*22(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(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)		CCGGTTCATGCCGCCCATGCA	0.582000		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)				278			32		4.65686e-17	4.94125e-17	0.003755	1	0
SCN9A	6335	broad.mit.edu	37	2	167162315	167162315	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:167162315C>T	uc010fpl.3	-	4	924	c.583G>A	c.(583-585)Gtc>Atc	p.V195I	SCN9A_uc002udr.1_Missense_Mutation_p.V66I|SCN9A_uc002uds.1_Missense_Mutation_p.V66I|SCN9A_uc002udt.1_Missense_Mutation_p.V66I	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	195						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V195I(4)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAAACAATGACGACAAAATCC	0.398000														331			37		0	0	0.007835	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	Missense_Mutation	SNP	C	T	T	rs141013110		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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														629			29		0	0	0.004289	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66126552	66126552	+	RNA	SNP	G	A	A	rs74196682	by1000genomes	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:66126552G>A	uc002jgq.3	+	5		c.5675G>A								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		CACAGGGCTGGGCAGAAAGGT	0.488000														155			6		0	0	0.001168	0	0
LOC440905	440905	broad.mit.edu	37	2	130786055	130786055	+	RNA	SNP	A	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:130786055A>T	uc002tpy.1	-	0		c.3437T>A			LOC440905_uc002tpz.2_Splice_Site					Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		AGACCTGGAAACCTGGGGGAA	0.428000														23			4		0	0	0.013537	0	0
WWC1	23286	broad.mit.edu	37	5	167881063	167881063	+	Silent	SNP	C	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:167881063C>T	uc003lzu.3	+	17	2709	c.2616C>T	c.(2614-2616)acC>acT	p.T872T	WWC1_uc003lzv.3_Silent_p.T872T|WWC1_uc011den.2_Silent_p.T872T|WWC1_uc003lzw.3_Silent_p.T671T|WWC1_uc010jjf.1_Silent_p.T144T	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	872	Glu-rich.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		aTGTTTTCACCGAGAAAGCCT	0.542000														742			33		0	0	0.003271	0	0
AJAP1	55966	broad.mit.edu	37	1	4772583	4772585	+	In_Frame_Del	DEL	CCA	-	-	rs141981296	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:4772583_4772585delCCA	uc001alm.1	+	1	1034_1036	c.653_655delCCA	c.(652-657)gccacc>gcc	p.T225del	AJAP1_uc001aln.3_In_Frame_Del_p.T225del	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	225	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.T225_A226insT(2)		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)		ACTGTGGccgccaccaccaccac	0.635													---	127	---	---	10	---					
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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)	---	512	---	---	21	---					
TAS1R1	80835	broad.mit.edu	37	1	6638843	6638845	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:6638843_6638845delGCT	uc001ant.3	+	5	1821_1823	c.1725_1727delGCT	c.(1723-1728)acgctg>acg	p.L582del	TAS1R1_uc001anu.3_In_Frame_Del_p.L328del|TAS1R1_uc021ofp.1_In_Frame_Del_p.C392del|ZBTB48_uc009vmc.2_5'Flank|ZBTB48_uc001anx.3_5'Flank|ZBTB48_uc009vmd.2_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	582					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CAGCTAACACgctgctgctgctg	0.611													---	221	---	---	7	---					
PHF13	148479	broad.mit.edu	37	1	6680069	6680071	+	In_Frame_Del	DEL	GAA	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:6680069_6680071delGAA	uc001aob.4	+	2	719_721	c.348_350delGAA	c.(346-351)ctgaag>ctg	p.K121del		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	Homo sapiens PHD finger protein 13 (PHF13), mRNA.	121					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		cggacaagctgaagaagaagaag	0.576													---	332	---	---	13	---					
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:6727803_6727804delTC	uc001aof.2	-	3	449_450	c.343_344delGA	c.(343-345)gaafs	p.E115fs	DNAJC11_uc001aog.2_Frame_Shift_Del_p.E115fs|DNAJC11_uc010nzu.1_Frame_Shift_Del_p.E25fs	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	115					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505													---	298	---	---	24	---					
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	1208	---	---	9	---					
TNFRSF9	3604	broad.mit.edu	37	1	7980912	7980914	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	784	---	---	13	---					
CLSTN1	22883	broad.mit.edu	37	1	9790640	9790642	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	422	---	---	11	---					
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	Frame_Shift_Ins	INS	-	AGCT	AGCT	rs141324796	by1000genomes	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:17034125_17034126insAGCT	uc001azn.1	-	2	478_479	c.364_365insAGCT	c.(364-366)tggfs	p.W122fs	ESPNP_uc010ocj.1_Frame_Shift_Ins_p.W52fs					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CAGCAGCAGCCAGCTGAGCACC	0.718													---	33	---	---	7	---					
MST1P9	11223	broad.mit.edu	37	1	17085995	17085996	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:17085995_17085996insC	uc010ock.2	-	6	901_902	c.901_902insG	c.(901-903)gcgfs	p.A301fs	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						CCCAACGCCCGCCCCCCCGCCC	0.658													---	213	---	---	16	---					
USP48	84196	broad.mit.edu	37	1	22083040	22083040	+	Splice_Site	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:22083040delT	uc010odq.2	-	3	650	c.412_splice	c.e3+1	p.D138_splice	USP48_uc001bfb.3_Splice_Site_p.D138_splice|USP48_uc009vqc.3_Splice_Site_p.D138_splice|USP48_uc001bfc.3_Splice_Site_p.D138_splice|USP48_uc001bfe.1_Splice_Site_p.D138_splice|USP48_uc001bff.3_Splice_Site_p.D138_splice	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.	138					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCCACCCACCTTTTTCTTCTT	0.438													---	1367	---	---	7	---					
UBXN11	91544	broad.mit.edu	37	1	26608843	26608844	+	In_Frame_Ins	INS	-	GGGACA	GGGACA	rs6667693	by1000genomes	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:26608843_26608844insGGGACA	uc001blw.3	-	15	1782_1783	c.1509_1510insTGTCCC	c.(1507-1512)insTGTCCC	p.503_504insCP	UBXN11_uc001bly.3_In_Frame_Ins_p.383_384insCP|UBXN11_uc001blz.1_Intron|UBXN11_uc001blx.3_In_Frame_Ins_p.261_262insCP|UBXN11_uc001bma.3_In_Frame_Ins_p.470_471insCP	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	503	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.					cytoplasm|cytoskeleton		p.P503_G504insCP(2)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ggaccgggaccgggactggggc	0.733													---	134	---	---	8	---					
AIM1L	55057	broad.mit.edu	37	1	26671506	26671556	+	In_Frame_Del	DEL	ACCTCTTTCCAGGTGGGAAATGAGGCATCAGGAGCACCGGGGCCCTTCACG	-	-	rs11577542	by1000genomes	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:26671506_26671556delACCTCTTTCCAGGTGGGAAATGAGGCATCAGGAGCACCGGGGCCCTTCACG	uc001bmd.4	-	1	1743_1793	c.1593_1643delCGTGAAGGGCCCCGGTGCTCCTGATGCCTCATTTCCCACCTGGAAAGAGGT	c.(1591-1644)gtcgtgaagggccccggtgctcctgatgcctcatttcccacctggaaagaggtt>gtt	p.531_548VVKGPGAPDASFPTWKEV>V		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	542	Ricin B-type lectin.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GCCCTTCACAACCTCTTTCCAGGTGGGAAATGAGGCATCAGGAGCACCGGGGCCCTTCACGACCTCTTTCC	0.629													---	5	---	---	4	---					
MACF1	23499	broad.mit.edu	37	1	39788668	39788670	+	In_Frame_Del	DEL	GGA	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	644	---	---	8	---					
B4GALT2	8704	broad.mit.edu	37	1	44447007	44447009	+	In_Frame_Del	DEL	AGC	-	-	rs72406230		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:44447007_44447009delAGC	uc010okl.2	+	1	338_340	c.262_264delAGC	c.(262-264)agcdel	p.S94del	B4GALT2_uc001clg.3_In_Frame_Del_p.S65del|B4GALT2_uc001clh.3_In_Frame_Del_p.A14del|B4GALT2_uc001cli.3_In_Frame_Del_p.S65del	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	65					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685													---	339	---	---	8	---					
ROR1	4919	broad.mit.edu	37	1	64608186	64608187	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:64608186_64608187delCA	uc001dbj.2	+	6	1426_1427	c.1027_1028delCA	c.(1027-1029)cacfs	p.H343fs	ROR1_uc001dbi.4_Frame_Shift_Del_p.H343fs|AK096291_uc001dbl.3_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	343	Kringle.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCAGTATCCCCACACACACACT	0.554													---	592	---	---	10	---					
COL11A1	1301	broad.mit.edu	37	1	103355065	103355065	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:103355065delT	uc001dum.3	-	58	4764	c.4446delA	c.(4444-4446)aaafs	p.K1482fs	COL11A1_uc001duk.3_Frame_Shift_Del_p.K666fs|COL11A1_uc001dul.3_Frame_Shift_Del_p.K1470fs|COL11A1_uc001dun.3_Frame_Shift_Del_p.K1431fs|COL11A1_uc009weh.3_Frame_Shift_Del_p.K1354fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1470	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCGGTCACCTTTTTCCCCTT	0.408													---	626	---	---	7	---					
SYCP1	6847	broad.mit.edu	37	1	115469134	115469134	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:115469134delA	uc001efr.3	+	22	2085	c.1876delA	c.(1876-1878)aaafs	p.K626fs	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Del_p.K626fs|SYCP1_uc009wgw.3_Frame_Shift_Del_p.K626fs	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	626					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAGGCCTTGAAAAAAAAAGG	0.264													---	206	---	---	9	---					
NBPF10	100132406	broad.mit.edu	37	1	145311123	145311123	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:145311123delA	uc021oul.1	+	12	1857	c.1822delA	c.(1822-1824)aaafs	p.K608fs	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Frame_Shift_Del_p.K147fs|NBPF10_uc010oyj.2_5'Flank|NBPF10_uc010oyl.2_5'Flank|NBPF10_uc001emq.1_Frame_Shift_Del_p.E282fs|NBPF10_uc021oum.1_Frame_Shift_Del_p.K147fs|NBPF10_uc021oun.1_5'Flank|NBPF10_uc021ouo.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	608										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)		GGATCAAGTGAAAAAGGAGGA	0.448													---	3194	---	---	7	---					
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	137	---	---	8	---					
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	-	-	rs149280379		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	704	---	---	12	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	-	-	rs11556342		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:154245864_154245866delGAA	uc010peo.2	+	1	267_269	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_uc001fet.3_Intron|HAX1_uc001fes.3_In_Frame_Del_p.E40del|HAX1_uc009wou.3_5'UTR	NM_006118	NP_006109	O00165	HAX1_HUMAN	Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript variant 1, mRNA.	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				---	380	---	---	8	---					
KCNN3	3782	broad.mit.edu	37	1	154842200	154842214	+	In_Frame_Del	DEL	GCTGCTGCTGCTGCT	-	-	rs58327065		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:154842200_154842214delGCTGCTGCTGCTGCT	uc021pah.1	-	0	541_555	c.227_241delAGCAGCAGCAGCAGC	c.(226-243)cagcagcagcagcagcca>cca	p.QQQQQ76del	KCNN3_uc001ffp.3_In_Frame_Del_p.QQQQQ76del|KCNN3_uc009wox.1_In_Frame_Del_p.QQQQQ76del	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.	76	Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(4)		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)			GGATGCGGTGgctgctgctgctgctgctgctgctg	0.707													---	41	---	---	7	---					
PVRL4	81607	broad.mit.edu	37	1	161044104	161044106	+	In_Frame_Del	DEL	CCA	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:161044104_161044106delCCA	uc001fxo.2	-	5	1357_1359	c.1058_1060delTGG	c.(1057-1062)gtgggt>ggt	p.V353del	PVRL4_uc010pjy.1_In_Frame_Del_p.V32del|PVRL4_uc010pjz.1_In_Frame_Del_p.V87del	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	353					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)			GCGATCACACCCACCACCACCAC	0.606													---	567	---	---	9	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:162326888_162326890delCAG	uc001gbv.2	+	7	1288_1290	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_uc010pkr.1_In_Frame_Del_p.Q301del|NOS1AP_uc001gbw.2_In_Frame_Del_p.Q301del|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611													---	334	---	---	7	---					
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:201843998_201844000delGAG	uc001gwz.3	+	21	2922_2924	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E962del		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	962					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	p.E962D(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443													---	637	---	---	17	---					
SYT2	127833	broad.mit.edu	37	1	202573647	202573649	+	In_Frame_Del	DEL	TTC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:202573647_202573649delTTC	uc001gye.3	-	2	472_474	c.279_281delGAA	c.(277-282)aagaac>aac	p.K93del	SYT2_uc010pqb.2_In_Frame_Del_p.K93del|SYT2_uc009xaf.3_Intron	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	93					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	p.N94S(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	ctccttcttgttcttcttcttct	0.532													---	703	---	---	10	---					
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:214557049_214557051delCCT	uc001hkk.2	-	12	2800_2802	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_uc021piy.1_In_Frame_Del_p.E480del|PTPN14_uc010pty.2_In_Frame_Del_p.E617del	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	716	Poly-Glu.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.E716delE(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626													---	399	---	---	18	---					
CPSF3	51692	broad.mit.edu	37	2	9595887	9595888	+	Splice_Site	DEL	GT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:9595887_9595888delGT	uc002qzo.1	+	13	1638	c.1603_splice	c.e13+1	p.G535_splice	CPSF3_uc010ewx.1_Splice_Site_p.G486_splice|CPSF3_uc002qzp.1_Splice_Site_p.G498_splice	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3, 73kDa (CPSF3), mRNA.	535					histone mRNA 3'-end processing|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|ribonucleoprotein complex	5'-3' exonuclease activity|RNA binding|endoribonuclease activity|metal ion binding|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		AAATTGACAGGTGTGTGTGTGT	0.366													---	318	---	---	7	---					
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	519	---	---	35	---					
PUM2	23369	broad.mit.edu	37	2	20482977	20482979	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	443	---	---	7	---					
CEBPZ	10153	broad.mit.edu	37	2	37454908	37454908	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	252	---	---	9	---					
SOS1	6654	broad.mit.edu	37	2	39222520	39222520	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:39222520delT	uc002rrk.4	-	19	3131	c.3090delA	c.(3088-3090)aaafs	p.K1030fs	SOS1_uc002rrj.4_Frame_Shift_Del_p.K644fs	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	1030					Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GATAGCTATATTTTTTTGGCT	0.388									Noonan syndrome				---	606	---	---	8	---					
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:61575023_61575025delTGG	uc002sbe.3	-	14	2287_2289	c.2265_2267delCCA	c.(2263-2268)caccat>cat	p.755_756HH>H		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	755					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtggt	0.389													---	450	---	---	8	---					
RGPD1	400966	broad.mit.edu	37	2	87211874	87211875	+	Splice_Site	INS	-	C	C			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:87211874_87211875insC	uc010fgv.3	+	19	2620	c.2582_splice	c.e19-2	p.V861_splice	RMND5A_uc002srs.4_Intron|RGPD1_uc021vkh.1_Splice_Site_p.V853_splice|RGPD1_uc002ssc.3_Splice_Site_p.V118_splice	NM_001078170	NP_001071638	Q68DN6	RGPD1_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 2 (RGPD2), mRNA.	853					intracellular transport		binding			breast(1)|endometrium(1)|lung(1)	3						tttttttttttAGTTGCAACTA	0.327													---	387	---	---	7	---					
ZNF514	84874	broad.mit.edu	37	2	95815034	95815035	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:95815034_95815035insT	uc002sud.1	-	4	1785_1786	c.1414_1415insA	c.(1414-1416)accfs	p.T472fs	ZNF514_uc002sue.1_Frame_Shift_Ins_p.T399fs	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	Homo sapiens zinc finger protein 514 (ZNF514), mRNA.	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						AATTTATAGGGTTTTTTTTCCA	0.396													---	685	---	---	9	---					
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:96919781_96919783delTGC	uc002svq.3	-	3	756_758	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_uc002svr.3_In_Frame_Del_p.Q160del	NM_017849	NP_060319	O75204	TM127_HUMAN	Homo sapiens transmembrane protein 127 (TMEM127), transcript variant 1, mRNA.	160					negative regulation of TOR signaling cascade|negative regulation of cell proliferation	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557													---	563	---	---	10	---					
REV1	51455	broad.mit.edu	37	2	100055102	100055102	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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					---	655	---	---	10	---					
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:113416607_113416608delAG	uc002tib.3	+	6	1523_1524	c.984_985delAG	c.(982-987)ccagagfs	p.P328fs	SLC20A1_uc002tic.1_Frame_Shift_Del_p.P140fs	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	328					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515													---	436	---	---	10	---					
CIR1	9541	broad.mit.edu	37	2	175213712	175213713	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:175213712_175213713insT	uc002uim.3	-	9	958_959	c.865_866insA	c.(865-867)atafs	p.I289fs	CIR1_uc002uin.3_Frame_Shift_Ins_p.I163fs	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	Homo sapiens corepressor interacting with RBPJ, 1 (CIR1), mRNA.	289	Lys/Ser-rich.				RNA splicing|mRNA processing|negative regulation of transcription, DNA-dependent	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381													---	262	---	---	8	---					
GTF3C3	9330	broad.mit.edu	37	2	197649613	197649614	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:197649613_197649614insT	uc002uts.3	-	7	1238_1239	c.1081_1082insA	c.(1081-1083)actfs	p.T361fs	GTF3C3_uc010zgu.2_Frame_Shift_Ins_p.T361fs|GTF3C3_uc002utu.3_Frame_Shift_Ins_p.T361fs|GTF3C3_uc002utt.4_Frame_Shift_Ins_p.T36fs	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	361						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCTTCTGAAGTTTTTTTTTCC	0.337													---	341	---	---	8	---					
SGOL2	151246	broad.mit.edu	37	2	201437004	201437004	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:201437004delT	uc002uvw.2	+	6	2048	c.1935delT	c.(1933-1935)aatfs	p.N645fs	SGOL2_uc010zhd.1_Frame_Shift_Del_p.N645fs|SGOL2_uc010zhe.1_Frame_Shift_Del_p.N645fs	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	645					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.G644fs*18(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAAGGTAATTTTTTTTTCA	0.333													---	615	---	---	8	---					
CHRNG	1146	broad.mit.edu	37	2	233404488	233404490	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:233404488_233404490delCTG	uc002vsx.1	+	0	52_54	c.31_33delCTG	c.(31-33)ctgdel	p.L14del	CHRNG_uc010fyd.3_In_Frame_Del_p.L14del|CHRNG_uc010fye.1_In_Frame_Del_p.L14del	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	14					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	p.L11L(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GCTGCTCCTCCTGCTGCTGCTGG	0.655													---	911	---	---	9	---					
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:242738494_242738496delTCC	uc002wcj.1	+	1	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA.	20					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631													---	596	---	---	16	---					
SGOL1	151648	broad.mit.edu	37	3	20216050	20216050	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr3:20216050delT	uc003cbu.3	-	5	1128	c.973delA	c.(973-975)atgfs	p.M325fs	SGOL1_uc003cbw.3_Intron|SGOL1_uc003cbv.3_Intron|SGOL1_uc003cbt.3_Intron|SGOL1_uc010hfa.3_Intron|SGOL1_uc003cbs.3_Frame_Shift_Del_p.M325fs|SGOL1_uc003cbr.3_Intron|SGOL1_uc003ccc.3_Intron|SGOL1_uc021wtx.1_Intron|SGOL1_uc021wty.1_Intron|SGOL1_uc003ccb.3_Intron|SGOL1_uc003cca.3_Frame_Shift_Del_p.M325fs|SGOL1_uc003cby.3_Intron|SGOL1_uc003cbx.3_Intron|SGOL1_uc003cbz.3_Frame_Shift_Del_p.M325fs	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	325					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						GATTTGTGCATTTTTTTTTGG	0.318													---	255	---	---	13	---					
NKTR	4820	broad.mit.edu	37	3	42679035	42679036	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr3:42679035_42679036insC	uc003clo.3	+	12	1986_1987	c.1839_1840insC	c.(1837-1842)agtcccfs	p.S613fs	NKTR_uc003clm.1_Frame_Shift_Ins_p.S360fs|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Frame_Shift_Ins_p.S360fs|NKTR_uc003clq.1_Frame_Shift_Ins_p.S503fs|NKTR_uc003clr.1_Frame_Shift_Ins_p.S360fs|NKTR_uc003cls.3_Frame_Shift_Ins_p.S313fs	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	613					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGTGACAGTCCCCCCCCTTC	0.421													---	1048	---	---	19	---					
HHATL	57467	broad.mit.edu	37	3	42739670	42739672	+	In_Frame_Del	DEL	GAA	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	559	---	---	7	---					
QRICH1	54870	broad.mit.edu	37	3	49094314	49094316	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr3:49094314_49094316delTGC	uc010hkq.3	-	3	1613_1615	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_uc003cvu.3_In_Frame_Del_p.439_440QQ>Q|QRICH1_uc003cvv.3_In_Frame_Del_p.439_440QQ>Q|QRICH1_uc021wxr.1_In_Frame_Del_p.376_377QQ>Q	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	439	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562													---	397	---	---	13	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	1471	---	---	16	---					
LRIG1	26018	broad.mit.edu	37	3	66436625	66436627	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr3:66436625_66436627delGCT	uc003dmx.3	-	12	1581_1583	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	SLC25A26_uc011bft.2_Non-coding_Transcript|LRIG1_uc011bfu.2_In_Frame_Del_p.S144del|LRIG1_uc003dmw.3_In_Frame_Del_p.S190del|LRIG1_uc010hnz.3_In_Frame_Del_p.S240del|LRIG1_uc010hoa.3_In_Frame_Del_p.S548del	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	524	Ig-like C2-type 1.|Poly-Ser.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547													---	1574	---	---	8	---					
FOXP1	27086	broad.mit.edu	37	3	71247357	71247359	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr3:71247357_71247359delTGC	uc003dol.3	-	1	497_499	c.174_176delGCA	c.(172-177)cagcaa>caa	p.58_59QQ>Q	FOXP1_uc003dom.3_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003doo.3_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003dop.3_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc021xao.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003doq.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003dos.3_In_Frame_Del_p.58_59QQ>Q	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	58	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	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			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CAGTACCTGTTGCTGCTGCTGCT	0.586			T	PAX5	ALL								---	537	---	---	11	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	1338	---	---	13	---					
DHX36	170506	broad.mit.edu	37	3	154032977	154032978	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr3:154032977_154032978insT	uc003ezy.4	-	2	541_542	c.460_461insA	c.(460-462)atgfs	p.M154fs	DHX36_uc010hvq.3_Frame_Shift_Ins_p.M154fs|DHX36_uc003ezz.4_Frame_Shift_Ins_p.M154fs	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	154						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTCTAAACATTTTTTTTTCT	0.337													---	291	---	---	12	---					
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr3:186362544delA	uc010hyq.3	+	4	690	c.429delA	c.(427-429)tcafs	p.S143fs	FETUB_uc011brz.2_5'UTR|FETUB_uc003fqn.3_Frame_Shift_Del_p.S143fs|FETUB_uc010hyr.3_Frame_Shift_Del_p.S106fs|FETUB_uc010hys.3_5'UTR|FETUB_uc003fqp.4_Frame_Shift_Del_p.S78fs	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	143						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418													---	587	---	---	15	---					
ATP13A3	79572	broad.mit.edu	37	3	194181471	194181473	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr3:194181471_194181473delGAG	uc003fty.4	-	2	541_543	c.139_141delCTC	c.(139-141)ctcdel	p.L47del		NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	47					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCATCCAATAGAGGAGGAGGAGG	0.463													---	747	---	---	9	---					
LYAR	55646	broad.mit.edu	37	4	4276167	4276169	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr4:4276167_4276169delCTT	uc011bvy.2	-	6	900_902	c.757_759delAAG	c.(757-759)aagdel	p.K253del	LYAR_uc011bvx.2_In_Frame_Del_p.K136del|LYAR_uc003ght.3_In_Frame_Del_p.K253del	NM_001145725	NP_060286	Q9NX58	LYAR_HUMAN	Homo sapiens Ly1 antibody reactive homolog (mouse) (LYAR), transcript variant 2, mRNA.	253	Lys-rich.					nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTTGCGCTGCTTCTTCTTCTTG	0.601													---	1540	---	---	7	---					
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	271	---	---	10	---					
YTHDC1	91746	broad.mit.edu	37	4	69202891	69202893	+	In_Frame_Del	DEL	TCC	-	-	rs141105019		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	285	---	---	9	---					
SULT1B1	27284	broad.mit.edu	37	4	70599153	70599153	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	969	---	---	7	---					
CSN2	1447	broad.mit.edu	37	4	70823289	70823289	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr4:70823289delA	uc003hes.4	-	4	391	c.378delT	c.(376-378)tttfs	p.F126fs	CSN2_uc003het.4_Frame_Shift_Del_p.F125fs	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	126					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TTTGAGGGTCAAAAAAGGGTA	0.473													---	450	---	---	7	---					
HERC5	51191	broad.mit.edu	37	4	89381265	89381266	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr4:89381265_89381266insA	uc003hrt.3	+	2	562_563	c.409_410insA	c.(409-411)gaafs	p.E137fs		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	137					ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CATTTTACAAGAAAAAAAAATA	0.272													---	221	---	---	8	---					
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr4:89618431_89618433delCCT	uc003hrx.3	-	0	591_593	c.473_475delAGG	c.(472-477)gaggct>gct	p.E158del	HERC3_uc011cdn.1_Intron|HERC3_uc003hrw.1_Intron|HERC3_uc011cdo.1_Intron	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN	Homo sapiens nucleosome assembly protein 1-like 5 (NAP1L5), mRNA.	158	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626													---	601	---	---	10	---					
MMRN1	22915	broad.mit.edu	37	4	90844391	90844393	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	1508	---	---	7	---					
ZNF827	152485	broad.mit.edu	37	4	146823381	146823383	+	In_Frame_Del	DEL	GTG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr4:146823381_146823383delGTG	uc003ikn.3	-	1	1076_1078	c.1028_1030delCAC	c.(1027-1032)ccacaa>caa	p.P343del	ZNF827_uc003ikm.3_In_Frame_Del_p.P343del|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	343	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCCAGGGATTgtggtggtggtgg	0.512													---	261	---	---	9	---					
ANP32C	23520	broad.mit.edu	37	4	165118286	165118288	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr4:165118286_165118288delTCC	uc011cjk.2	-	0	576_578	c.576_578delGGA	c.(574-579)gaggaa>gaa	p.192_193EE>E	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	192	Asp/Glu-rich (highly acidic).							p.E192E(2)|p.E192*(1)		NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		ctcttcaccttcctcctcctcct	0.547													---	106	---	---	10	---					
CLCN3	1182	broad.mit.edu	37	4	170613460	170613460	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr4:170613460delA	uc003ish.3	+	6	1484	c.925delA	c.(925-927)aaafs	p.K309fs	CLCN3_uc003isi.3_Frame_Shift_Del_p.K309fs|CLCN3_uc011cka.2_Frame_Shift_Del_p.K309fs|CLCN3_uc011cjz.2_Frame_Shift_Del_p.K292fs|CLCN3_uc003isj.2_Frame_Shift_Del_p.K282fs	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	309					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AAACGAAGCTAAAAAAAGGGA	0.308													---	593	---	---	10	---					
JMY	133746	broad.mit.edu	37	5	78610476	78610478	+	In_Frame_Del	DEL	CCA	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:78610476_78610478delCCA	uc003kfx.4	+	8	3010_3012	c.2461_2463delCCA	c.(2461-2463)ccadel	p.P825del	JMY_uc003kfw.1_In_Frame_Del_p.P471del	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	825	Pro-rich.				'de novo' actin filament nucleation|Arp2/3 complex-mediated actin nucleation|DNA repair|actin polymerization-dependent cell motility|cell cycle arrest|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		tccccctcccccaccaccaccac	0.537													---	287	---	---	7	---					
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:79372774_79372776delTGA	uc021yaw.1	+	15	2180_2182	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	668					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562													---	1289	---	---	9	---					
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:124079813_124079815delCTC	uc003ktq.1	-	0	1051_1053	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_In_Frame_Del_p.E290del|ZNF608_uc003ktt.1_In_Frame_Del_p.E290del	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	290						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522													---	1099	---	---	11	---					
SLC12A2	6558	broad.mit.edu	37	5	127420207	127420209	+	In_Frame_Del	DEL	CGG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:127420207_127420209delCGG	uc003kus.3	+	0	725_727	c.561_563delCGG	c.(559-564)tccggc>tcc	p.G192del	FLJ33630_uc003kun.3_5'Flank|FLJ33630_uc003kuo.3_5'Flank|FLJ33630_uc003kuq.1_5'Flank|FLJ33630_uc003kur.3_5'Flank|SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_In_Frame_Del_p.G192del	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	192	Poly-Gly.				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCTGCACTCCGGCGGCGGCGGC	0.650													---	204	---	---	8	---					
TCERG1	10915	broad.mit.edu	37	5	145886723	145886723	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:145886723delA	uc003lob.3	+	18	2903	c.2863delA	c.(2863-2865)aaafs	p.K955fs	TCERG1_uc003loc.3_Frame_Shift_Del_p.K934fs	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	955					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCACTTACCAAAAAAAAGAG	0.373													---	641	---	---	7	---					
GEMIN5	25929	broad.mit.edu	37	5	154287370	154287370	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:154287370delT	uc003lvx.3	-	15	2259	c.2176delA	c.(2176-2178)agtfs	p.S726fs	GEMIN5_uc011ddk.1_Frame_Shift_Del_p.S725fs	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	726					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATTCAATACTTTTTTTGCCT	0.373													---	525	---	---	7	---					
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:156378745_156378747delTTG	uc003lwh.2	-	2	512_514	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_uc010jii.2_In_Frame_Del_p.T152del	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	152	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537													---	1766	---	---	16	---					
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	-	-	rs2274212	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:7393450_7393452delGAC	uc003mxn.3	+	1	364_366	c.190_192delGAC	c.(190-192)gacdel	p.D69del	RIOK1_uc003mxm.1_5'UTR	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	69							ATP binding|protein serine/threonine kinase activity	p.V69A(1)|p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													---	473	---	---	12	---					
BTN2A2	10385	broad.mit.edu	37	6	26384091	26384093	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:26384091_26384093delCCT	uc003nht.3	+	1	175_177	c.42_44delCCT	c.(40-45)tccctc>tcc	p.L24del	BTN2A2_uc003nhs.3_In_Frame_Del_p.L24del|BTN2A2_uc011dkf.2_In_Frame_Del_p.L24del|BTN2A2_uc003nhq.3_In_Frame_Del_p.L24del|BTN2A2_uc003nhr.3_In_Frame_Del_p.L24del|BTN2A2_uc011dkh.2_In_Frame_Del_p.L24del|BTN2A2_uc011dkg.2_In_Frame_Del_p.L24del	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	24					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGCCAGCCTCcctcctcctcctc	0.581													---	552	---	---	15	---					
BTN2A3P	54718	broad.mit.edu	37	6	26422388	26422390	+	In_Frame_Del	DEL	CCT	-	-	rs113134648		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:26422388_26422390delCCT	uc011dkl.1	+	0	72_74	c.42_44delCCT	c.(40-45)tccctc>tcc	p.L19del	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.																		GGCCAGCCTCCCTCCTCCTCCTC	0.586													---	820	---	---	31	---					
TRIM26	7726	broad.mit.edu	37	6	30157254	30157254	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:30157254delT	uc003npr.3	-	6	1054	c.845delA	c.(844-846)aagfs	p.K282fs	TRIM26_uc003nps.3_Frame_Shift_Del_p.K282fs|TRIM26_uc003npt.3_Frame_Shift_Del_p.K282fs|TRIM26_uc010jry.3_5'UTR	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	282							DNA binding|zinc ion binding	p.K282fs*16(1)		lung(1)|ovary(2)	3						TTCTCCGGTCTTTTTTTTAAC	0.483													---	620	---	---	8	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:31939825_31939826insG	uc003nyv.3	+	0	180_181	c.52_53insG	c.(52-54)cggfs	p.R18fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.R18fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.R18fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													---	853	---	---	25	---					
TBC1D22B	55633	broad.mit.edu	37	6	37250062	37250063	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:37250062_37250063insC	uc003onn.3	+	3	669_670	c.523_524insC	c.(523-525)gccfs	p.A175fs	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	175						intracellular	Rab GTPase activator activity	p.A175P(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CGCTTCTGGGGCCCCCCCAATG	0.569													---	346	---	---	7	---					
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:41621169_41621171delCTG	uc003oqq.4	+	4	804_806	c.597_599delCTG	c.(595-600)ctctgc>ctc	p.C204del	MDFI_uc010jxn.3_In_Frame_Del_p.C204del	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	204	Cys-rich.				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655													---	624	---	---	16	---					
GSTA1	2938	broad.mit.edu	37	6	52664097	52664100	+	Splice_Site	DEL	TGAA	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:52664097_52664100delTGAA	uc003paz.3	-	2	83	c.-29_splice	c.e2-1		GSTA1_uc021zan.1_Splice_Site	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.						glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	TCTCTAAGCCtgaatgaatgaatg	0.431													---	240	---	---	7	---					
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:88144700delA	uc003plv.3	+	10	1546	c.1423delA	c.(1423-1425)aaafs	p.K475fs	SLC35A1_uc003plx.3_5'Flank|C6orf165_uc003plu.2_Frame_Shift_Del_p.K475fs|C6orf165_uc003plw.3_Frame_Shift_Del_p.K287fs|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	475								p.A474D(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269													---	464	---	---	14	---					
ARHGAP18	93663	broad.mit.edu	37	6	129959602	129959603	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:129959602_129959603insT	uc003qbr.3	-	2	577_578	c.488_489insA	c.(487-489)aacfs	p.N163fs	ARHGAP18_uc011ebw.2_Frame_Shift_Ins_p.N163fs|ARHGAP18_uc021zfe.1_Frame_Shift_Ins_p.N160fs	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	163					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGTACTGTTTGTTTTTTTTCCT	0.421													---	1117	---	---	10	---					
MTHFD1L	25902	broad.mit.edu	37	6	151358163	151358164	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:151358163_151358164insA	uc021zgs.1	+	25	2904_2905	c.2760_2761insA	c.(2758-2763)gacaaafs	p.D920fs	MTHFD1L_uc011een.2_Non-coding_Transcript|MTHFD1L_uc003qob.3_Frame_Shift_Ins_p.D919fs|MTHFD1L_uc021zgt.1_Frame_Shift_Ins_p.D854fs|MTHFD1L_uc003qoc.3_Frame_Shift_Ins_p.D867fs	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	919	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	p.L914fs*14(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCAACCTGACAAAAAAGGTGT	0.480													---	484	---	---	14	---					
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr7:39379288_39379290delCAG	uc003thb.2	+	5	702_704	c.559_561delCAG	c.(559-561)cagdel	p.Q196del	POU6F2_uc022acb.1_In_Frame_Del_p.Q196del|POU6F2_uc010kxo.3_In_Frame_Del_p.Q188del	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728).	central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q196*(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616													---	117	---	---	10	---					
VKORC1L1	154807	broad.mit.edu	37	7	65419353	65419354	+	In_Frame_Ins	INS	-	TTA	TTA	rs71982071		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr7:65419353_65419354insTTA	uc011kds.2	+	1	589_590	c.487_488insTTA	c.(487-489)ttt>tTTAtt	p.171_172insI	VKORC1L1_uc003tul.3_3'UTR|VKORC1L1_uc003tum.1_5'Flank			Q8N0U8	VKORL_HUMAN	Homo sapiens vitamin K epoxide reductase complex, subunit 1-like 1 (VKORC1L1), mRNA.	0						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	GCAGCAGGTTTttattattatt	0.416													---	30	---	---	9	---					
STX1A	6804	broad.mit.edu	37	7	73123425	73123427	+	In_Frame_Del	DEL	CAT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr7:73123425_73123427delCAT	uc003tyx.3	-	1	112_114	c.56_58delATG	c.(55-60)gatgtc>gtc	p.D19del	STX1A_uc003tyy.3_In_Frame_Del_p.D19del|STX1A_uc010lbj.2_In_Frame_Del_p.D19del|MIR4284_uc022afw.1_5'Flank	NM_004603	NP_004594	Q16623	STX1A_HUMAN	Homo sapiens syntaxin 1A (brain) (STX1A), transcript variant 1, mRNA.	19					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTGACAGCGACATCATCATCATC	0.586													---	711	---	---	7	---					
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	-	-	rs147779783	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	1617	---	---	8	---					
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr7:77423460delT	uc003ugn.3	-	1	458	c.231delA	c.(229-231)aaafs	p.K77fs	TMEM60_uc022ago.1_Frame_Shift_Del_p.K77fs	NM_032936	NP_116325	Q9H2L4	TMM60_HUMAN	Homo sapiens transmembrane protein 60 (TMEM60), mRNA.	77						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408													---	605	---	---	14	---					
PHTF2	57157	broad.mit.edu	37	7	77569581	77569581	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	678	---	---	8	---					
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	255	---	---	10	---					
CDK5	1020	broad.mit.edu	37	7	150754217	150754217	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr7:150754217delT	uc003wir.2	-	1	185	c.68delA	c.(67-69)aacfs	p.N23fs	CDK5_uc022apy.1_5'Flank|CDK5_uc003wis.2_Frame_Shift_Del_p.N23fs|SLC4A2_uc022apz.1_5'Flank|SLC4A2_uc003wit.4_5'Flank	NM_004935	NP_004926	Q00535	CDK5_HUMAN	Homo sapiens cyclin-dependent kinase 5 (CDK5), transcript variant 1, mRNA.	23	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	ATP binding|ErbB-2 class receptor binding|ErbB-3 class receptor binding|acetylcholine receptor activator activity|cyclin-dependent protein kinase activity|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		AGTCTCCCGGTTTTTGGCCTT	0.582													---	1177	---	---	11	---					
NPM2	10361	broad.mit.edu	37	8	21892020	21892021	+	Splice_Site	INS	-	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr8:21892020_21892021insA	uc003xac.3	+	8	1162	c.532_splice	c.e8-1	p.K178_splice	NPM2_uc003xad.3_Splice_Site_p.K178_splice|NPM2_uc003xae.3_Splice_Site_p.K178_splice|NPM2_uc003xaf.3_Splice_Site_p.E122_splice	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN	Homo sapiens nucleophosmin/nucleoplasmin 2 (NPM2), mRNA.	178	Poly-Lys.				chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		TTGGTTCCCAGAAAAAAAAGCT	0.406													---	849	---	---	7	---					
ESCO2	157570	broad.mit.edu	37	8	27634576	27634577	+	Frame_Shift_Ins	INS	-	A	A	rs80359854		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr8:27634576_27634577insA	uc003xgg.3	+	2	834_835	c.751_752insA	c.(751-753)gaafs	p.E251fs	ESCO2_uc010luy.1_Non-coding_Transcript|ESCO2_uc003xgh.3_Frame_Shift_Ins_p.E251fs	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	251					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GACTGTCAGTGAAAAAAAAACT	0.396									SC Phocomelia syndrome				---	330	---	---	8	---					
C8orf80	389643	broad.mit.edu	37	8	27888776	27888776	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	1071	---	---	14	---					
GTF2E2	2961	broad.mit.edu	37	8	30511012	30511014	+	In_Frame_Del	DEL	GAT	-	-	rs113662547		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr8:30511012_30511014delGAT	uc003xig.3	-	1	355_357	c.102_104delATC	c.(100-105)tcatcg>tcg	p.34_35SS>S		NM_002095	NP_002086	P29084	T2EB_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 2, beta 34kDa (GTF2E2), mRNA.	34	Poly-Ser.				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CTTCTTTGACGATGATGATGATG	0.384													---	787	---	---	8	---					
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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				---	433	---	---	10	---					
UNC5D	137970	broad.mit.edu	37	8	35608248	35608248	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr8:35608248delT	uc003xjr.2	+	12	2412	c.2084delT	c.(2083-2085)gttfs	p.V695fs	UNC5D_uc003xjs.2_Frame_Shift_Del_p.V690fs|UNC5D_uc003xju.2_Frame_Shift_Del_p.V271fs	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	695					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAGGTGGCGGTTTTTGGCTGC	0.488													---	965	---	---	7	---					
STAU2	27067	broad.mit.edu	37	8	74507471	74507471	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr8:74507471delT	uc003xzm.3	-	10	1432	c.1091delA	c.(1090-1092)aatfs	p.N364fs	STAU2_uc011lfh.2_Frame_Shift_Del_p.N260fs|STAU2_uc003xzn.3_Frame_Shift_Del_p.N332fs|STAU2_uc011lfg.2_Frame_Shift_Del_p.N192fs|STAU2_uc003xzo.3_Frame_Shift_Del_p.N364fs|STAU2_uc003xzq.3_Frame_Shift_Del_p.N144fs|STAU2_uc003xzp.3_Frame_Shift_Del_p.N332fs|STAU2_uc011lfi.2_Frame_Shift_Del_p.N326fs|STAU2_uc010lzk.3_Frame_Shift_Del_p.N332fs|STAU2_uc010lzl.1_Frame_Shift_Del_p.N192fs	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	364	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.N332fs*67(1)|p.G364V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTCTGCAGCATTTTTTTTGGC	0.328													---	560	---	---	7	---					
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr8:95952409_95952411delTCT	uc003yhg.3	-	2	534_536	c.150_152delAGA	c.(148-153)gaagag>gag	p.50_51EE>E	TP53INP1_uc003yhh.3_In_Frame_Del_p.50_51EE>E	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.	50	Glu-rich.				apoptosis	PML body		p.E50E(2)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458													---	265	---	---	7	---					
COL22A1	169044	broad.mit.edu	37	8	139809072	139809072	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr8:139809072delT	uc003yvd.3	-	11	2033	c.1586delA	c.(1585-1587)aagfs	p.K529fs		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	529	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCACCCTTTTCCCCTTG	0.463										HNSCC(7;0.00092)			---	1532	---	---	9	---					
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:732475_732477delGAG	uc003zgl.1	+	9	3752_3754	c.3103_3105delGAG	c.(3103-3105)gagdel	p.E1039del	KANK1_uc003zgm.3_3'UTR|KANK1_uc003zgn.1_In_Frame_Del_p.E1039del|KANK1_uc003zgs.1_In_Frame_Del_p.E881del|KANK1_uc010mgx.1_5'UTR|KANK1_uc010mgy.1_5'UTR|KANK1_uc003zgt.1_5'Flank	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	1039					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTTGAAGAAGAGGAGGAGGAGG	0.463													---	742	---	---	16	---					
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971109	+	Frame_Shift_Del	DEL	CCCGGGCAGCGTCG	-	-	rs11552822		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:21971096_21971109delCCCGGGCAGCGTCG	uc003zpk.3	-	1	555_568	c.249_262delCGACGCTGCCCGGG	c.(247-264)cacgacgctgcccgggagfs	p.H83fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Frame_Shift_Del_p.H83fs|CDKN2A_uc003zpl.3_Frame_Shift_Del_p.R98fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(34)|p.E88*(30)|p.D84Y(21)|p.D84N(12)|p.D84V(11)|p.E88E(6)|p.E88K(6)|p.D84fs*63(4)|p.D84H(4)|p.D84G(4)|p.H83fs*2(4)|p.R87fs*59(3)|p.V82_G89>G(2)|p.A86V(2)|p.D84fs*1(2)|p.V82fs*62(2)|p.P81_A85del(2)|p.V82_E88del(2)|p.A86fs*34(2)|p.H83Q(2)|p.D84_F90del(2)|p.D84fs*36(2)|p.D84D(2)|p.R139Q(2)|p.A85T(2)|p.V82M(2)|p.A85P(2)|p.E87K(2)|p.E88D(2)|p.H83P(2)|p.R87L(2)|p.E61_L94del(2)|p.R87Q(2)|p.R87W(2)|p.G143V(1)|p.V82L(1)|p.R80fs*34(1)|p.E88A(1)|p.H83N(1)|p.E88G(1)|p.P142fs*>32(1)|p.R139*(1)|p.A85fs(1)|p.A68fs*3(1)|p.V82fs*44(1)|p.H83R(1)|p.V82V(1)|p.R139L(1)|p.0(1)|p.V82fs*64(1)|p.R137fs*48(1)|p.R139R(1)|p.E88V(1)|p.R87fs(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCGTCGTGCACGGGTC	0.734	D84Y(DU145_PROSTATE)|D84Y(LK2_LUNG)|E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	158	---	---	7	---					
RUSC2	9853	broad.mit.edu	37	9	35560102	35560104	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:35560102_35560104delGCT	uc003zww.3	+	9	3720_3722	c.3465_3467delGCT	c.(3463-3468)gagctg>gag	p.L1160del	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_In_Frame_Del_p.L1160del	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1160	RUN.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTTGAAGAGCTGCTGCTGCTG	0.616													---	875	---	---	8	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:43844265delG	uc004ada.2	+	9	2009	c.1599delG	c.(1597-1599)gcgfs	p.A533fs	CNTNAP3B_uc004acz.2_Intron	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													---	68	---	---	11	---					
BC080605	0	broad.mit.edu	37	9	68413605	68413606	+	RNA	DEL	CT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:68413605_68413606delCT	uc004aex.3	+	0		c.160_161delCT								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		TTTGCTGAAACTCTGGGGTTGA	0.609													---	40	---	---	8	---					
ECM2	1842	broad.mit.edu	37	9	95277146	95277148	+	In_Frame_Del	DEL	TCC	-	-	rs137929518	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:95277146_95277148delTCC	uc011lty.2	-	3	1006_1008	c.819_821delGGA	c.(817-822)gaggat>gat	p.E273del	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_In_Frame_Del_p.E251del|ECM2_uc004asg.3_In_Frame_Del_p.E251del	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	273	Poly-Glu.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ctcctcctcatcctcctcctcct	0.606													---	650	---	---	7	---					
MRPL50	54534	broad.mit.edu	37	9	104152751	104152752	+	Frame_Shift_Ins	INS	-	TA	TA			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:104152751_104152752insTA	uc004bbe.2	-	1	518_519	c.473_474insTA	c.(472-474)tacfs	p.Y158fs	MRPL50_uc011lvj.2_Intron	NM_019051	NP_061924	Q8N5N7	RM50_HUMAN	Homo sapiens mitochondrial ribosomal protein L50 (MRPL50), nuclear gene encoding mitochondrial protein, mRNA.	158						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				GAATTGCTTAGTAACTCCAAGT	0.381													---	740	---	---	8	---					
TNC	3371	broad.mit.edu	37	9	117797539	117797539	+	Frame_Shift_Del	DEL	G	-	-	rs148674204	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:117797539delG	uc004bjj.4	-	21	6143	c.5731delC	c.(5731-5733)cggfs	p.R1911fs	TNC_uc010mvf.3_Frame_Shift_Del_p.R1638fs|TNC_uc022bmj.1_Frame_Shift_Del_p.R1548fs	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1911	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACTGATGCCCGGGGGGGTCGC	0.478													---	810	---	---	7	---					
ENG	2022	broad.mit.edu	37	9	130581107	130581107	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:130581107delT	uc004bsj.4	-	10	1729	c.1316delA	c.(1315-1317)aagfs	p.K439fs	ENG_uc011mam.2_Frame_Shift_Del_p.K250fs|ENG_uc004bsk.4_Frame_Shift_Del_p.K439fs|AK057719_uc004bsl.1_Intron	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	439	Ser/Thr-rich.				BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GCAGTGCACCTTTTTCTGGGG	0.637									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				---	1088	---	---	7	---					
NOTCH1	4851	broad.mit.edu	37	9	139390945	139390947	+	In_Frame_Del	DEL	GTG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:139390945_139390947delGTG	uc004chz.3	-	33	7244_7246	c.7244_7246delCAC	c.(7243-7248)ccacag>cag	p.P2415del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2415	Poly-Pro.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.Q2417*(2)|p.P2416fs*11(1)|p.P2414L(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCGGCTGTGGTGGTGGTGG	0.650			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			---	226	---	---	9	---					
SFMBT2	57713	broad.mit.edu	37	10	7212995	7212997	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr10:7212995_7212997delCTC	uc009xio.2	-	19	2528_2530	c.2437_2439delGAG	c.(2437-2439)gagdel	p.E813del	SFMBT2_uc001ijn.2_In_Frame_Del_p.E813del|SFMBT2_uc010qay.2_In_Frame_Del_p.E648del	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	813					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GAACCAGTCTCTCCTCCTCCTCC	0.596													---	861	---	---	9	---					
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	-	-	rs12246234		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr10:55587198_55587200delGGC	uc010qhy.1	-	32	4730_4732	c.4335_4337delGCC	c.(4333-4338)ccgcct>cct	p.1445_1446PP>P	PCDH15_uc010qhq.2_In_Frame_Del_p.1445_1446PP>P|PCDH15_uc010qhr.2_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqv.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqw.1_In_Frame_Del_p.1452_1453PP>P|PCDH15_uc010qht.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_uc021pqx.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqz.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_uc010qhv.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_uc010qhw.1_In_Frame_Del_p.1400_1401PP>P|PCDH15_uc010qhx.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_uc010qhz.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc010qia.1_In_Frame_Del_p.1418_1419PP>P|PCDH15_uc001jju.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc010qib.1_In_Frame_Del_p.1415_1416PP>P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1440					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A1445A(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)			---	469	---	---	7	---					
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr10:61828745_61828747delGTG	uc001jky.3	-	36	12230_12232	c.11892_11894delCAC	c.(11890-11895)accact>act	p.3964_3965TT>T	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3964	Thr-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ggtggtggcagtggtggtggtgg	0.498													---	603	---	---	7	---					
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr10:81072446delC	uc001kaf.2	+	24	3716	c.3144delC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_uc001kag.2_Frame_Shift_Del_p.D924fs|ZMIZ1_uc010qlq.1_Frame_Shift_Del_p.D114fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	1048					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)			CTTATCTGGACCCCCCCGACC	0.557													---	1259	---	---	15	---					
SCD	6319	broad.mit.edu	37	10	102107836	102107838	+	In_Frame_Del	DEL	ACC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	762	---	---	11	---					
CTAGE7P	119437	broad.mit.edu	37	10	131905960	131905960	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr10:131905960delG	uc021qax.1	+	0	1688	c.1651delG	c.(1651-1653)gggfs	p.G551fs	LOC387723_uc010qus.2_Intron					Homo sapiens CTAGE family, member 7, pseudogene (CTAGE7P), non-coding RNA.																		TTTGCCTCCAGGGGGGGAAGG	0.532													---	407	---	---	7	---					
PHRF1	57661	broad.mit.edu	37	11	592586	592588	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:592586_592588delGAG	uc001lqe.3	+	5	663_665	c.532_534delGAG	c.(532-534)gagdel	p.E181del	PHRF1_uc010qwc.2_In_Frame_Del_p.E181del|PHRF1_uc010qwd.2_In_Frame_Del_p.E180del|PHRF1_uc010qwe.2_In_Frame_Del_p.E177del|PHRF1_uc009ybz.1_5'UTR	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	181	Poly-Glu.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAAAGCGAGCGAGGAGGAGGAGG	0.616													---	738	---	---	8	---					
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	-	-	rs61867552	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	540	---	---	12	---					
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:6891253_6891255delTTC	uc001meu.1	+	0	268_270	c.268_270delTTC	c.(268-270)ttcdel	p.F94del		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517													---	751	---	---	9	---					
OR4D6	219983	broad.mit.edu	37	11	59224768	59224768	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:59224768delT	uc010rku.2	+	0	335	c.335delT	c.(334-336)attfs	p.I112fs		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GGGGCAGATATTTTTTTCCTC	0.483													---	964	---	---	8	---					
CPSF7	79869	broad.mit.edu	37	11	61183765	61183767	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	396	---	---	13	---					
C11orf9	745	broad.mit.edu	37	11	61539013	61539013	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:61539013delC	uc001nsc.1	+	5	878	c.782delC	c.(781-783)tccfs	p.S261fs	C11orf9_uc001nse.1_Frame_Shift_Del_p.S252fs	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	261	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S255fs*74(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						CACTCTGAATCCCCCCCCAGC	0.637													---	716	---	---	7	---					
SLC3A2	6520	broad.mit.edu	37	11	62649529	62649529	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:62649529delA	uc001nwd.3	+	4	1150	c.892delA	c.(892-894)aaafs	p.K298fs	SLC3A2_uc001nwc.3_Frame_Shift_Del_p.K299fs|SLC3A2_uc001nwf.3_Frame_Shift_Del_p.K236fs|SLC3A2_uc001nwg.3_Frame_Shift_Del_p.K197fs|SLC3A2_uc010rml.1_5'Flank	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	298					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.K331fs*31(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCAATCGGCTAAAAAAAAGAG	0.463													---	451	---	---	9	---					
KDM2A	22992	broad.mit.edu	37	11	67018079	67018081	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:67018079_67018081delGAG	uc001ojw.3	+	16	3442_3444	c.2578_2580delGAG	c.(2578-2580)gagdel	p.E866del	KDM2A_uc001ojx.3_Intron|KDM2A_uc001ojy.3_In_Frame_Del_p.E560del|KDM2A_uc010rpn.2_In_Frame_Del_p.E427del|KDM2A_uc001ojz.1_In_Frame_Del_p.E324del|KDM2A_uc001oka.3_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	866					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ggaggaggaagaggaggaggagg	0.655													---	125	---	---	7	---					
UVRAG	7405	broad.mit.edu	37	11	75694430	75694431	+	Splice_Site	INS	-	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:75694430_75694431insA	uc001oxc.3	+	8	941	c.700_splice	c.e8-1	p.K234_splice	UVRAG_uc010rrw.2_Splice_Site_p.K133_splice|UVRAG_uc001oxd.3_Splice_Site|UVRAG_uc010rrx.2_Splice_Site|UVRAG_uc009yuh.1_Splice_Site	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	234					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TATTTATTTAGAAAAAAAAAAG	0.302													---	250	---	---	23	---					
PHLDB1	23187	broad.mit.edu	37	11	118514602	118514604	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:118514602_118514604delTCC	uc001ptr.2	+	14	3315_3317	c.2962_2964delTCC	c.(2962-2964)tccdel	p.S992del	PHLDB1_uc001pts.3_In_Frame_Del_p.S992del|PHLDB1_uc001ptt.3_In_Frame_Del_p.S945del|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_In_Frame_Del_p.S792del|PHLDB1_uc001ptw.2_In_Frame_Del_p.S347del|PHLDB1_uc009zai.2_In_Frame_Del_p.S28del|PHLDB1_uc001ptx.2_In_Frame_Del_p.S28del|PHLDB1_uc010ryi.1_In_Frame_Del_p.S135del|PHLDB1_uc010ryj.1_In_Frame_Del_p.S130del	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	992										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ctctggctcttcctcctcctcct	0.650													---	267	---	---	7	---					
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	A	A	rs35817404		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:125505377_125505378insA	uc009zbo.3	+	6	1564_1565	c.667_668insA	c.(667-669)gaafs	p.E223fs	CHEK1_uc010sbi.2_Frame_Shift_Ins_p.E223fs|CHEK1_uc010sbh.2_Frame_Shift_Ins_p.E239fs|CHEK1_uc001qcf.4_Frame_Shift_Ins_p.E223fs|CHEK1_uc009zbp.3_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qcg.4_Frame_Shift_Ins_p.E223fs	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.	223	Protein kinase.		E -> V (in dbSNP:rs35817404).		DNA repair|DNA replication|cellular response to mechanical stimulus|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361								Other conserved DNA damage response genes					---	786	---	---	31	---					
SRPR	6734	broad.mit.edu	37	11	126137124	126137124	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:126137124delC	uc001qdh.3	-	3	650	c.472delG	c.(472-474)gaafs	p.E158fs	SRPR_uc010sbm.2_Frame_Shift_Del_p.E130fs|FOXRED1_uc001qdi.3_5'Flank|FOXRED1_uc010sbn.2_5'Flank|FOXRED1_uc010sbq.2_5'Flank|FOXRED1_uc010sbo.2_5'Flank|FOXRED1_uc010sbp.2_5'Flank|FOXRED1_uc010sbr.2_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	158					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTGGGCTTTTCCCCCCGTGTC	0.443													---	1278	---	---	7	---					
TAS2R50	259296	broad.mit.edu	37	12	11139432	11139432	+	Frame_Shift_Del	DEL	A	-	-	rs79147066		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:11139432delA	uc001qzl.2	-	0	80	c.28delT	c.(28-30)tcafs	p.S10fs	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176890	NP_795371	P59544	T2R50_HUMAN	Homo sapiens taste receptor, type 2, member 50 (TAS2R50), mRNA.	10					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.S10fs*3(4)|p.S10fs*25(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						ATTAGAATTGAAAAAAAAATG	0.318													---	299	---	---	12	---					
PDE3A	5139	broad.mit.edu	37	12	20833140	20833142	+	In_Frame_Del	DEL	GAA	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:20833140_20833142delGAA	uc001reh.2	+	15	3401_3403	c.3361_3363delGAA	c.(3361-3363)gaadel	p.E1125del	PDE3A_uc021qwa.1_In_Frame_Del_p.E803del	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	1125	Poly-Glu.				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGCTATCAAGGAAGAAGAAGAAG	0.478													---	630	---	---	7	---					
FAM60A	58516	broad.mit.edu	37	12	31448178	31448178	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:31448178delT	uc001rkc.3	-	1	535	c.293delA	c.(292-294)aacfs	p.N98fs	FAM60A_uc010sjz.2_Frame_Shift_Del_p.N73fs|FAM60A_uc001rkd.3_Frame_Shift_Del_p.N73fs|FAM60A_uc010ska.2_Frame_Shift_Del_p.N73fs|FAM60A_uc001rke.3_Frame_Shift_Del_p.N73fs|FAM60A_uc010skb.2_Intron	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN	Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA.	73										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					ATGATTCCAGTTTTTTTTTGA	0.358													---	193	---	---	9	---					
PRICKLE1	144165	broad.mit.edu	37	12	42853801	42853803	+	In_Frame_Del	DEL	GAG	-	-	rs35854729	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:42853801_42853803delGAG	uc010skv.2	-	7	2591_2593	c.2304_2306delCTC	c.(2302-2307)tcctct>tct	p.768_769SS>S	PRICKLE1_uc001rnl.3_In_Frame_Del_p.768_769SS>S|PRICKLE1_uc010skw.2_In_Frame_Del_p.768_769SS>S|PRICKLE1_uc001rnm.3_In_Frame_Del_p.768_769SS>S|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	768	Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	p.S769F(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CGAGTCGGAAGAGGAGGAGGAGG	0.507													---	799	---	---	7	---					
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:46318575_46318577delGGT	uc001rox.3	-	11	4127_4129	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_uc001row.3_In_Frame_Del_p.965_966PP>P	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	1280	Pro-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483													---	700	---	---	8	---					
MLL2	8085	broad.mit.edu	37	12	49433772	49433773	+	Frame_Shift_Ins	INS	-	G	G	rs35050033		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:49433772_49433773insG	uc001rta.4	-	30	7780_7781	c.7780_7781insC	c.(7780-7782)ctgfs	p.L2594fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2594	Pro-rich.				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						GCTGGGCCCCAGGGGGCTGCCC	0.649			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			---	99	---	---	14	---					
TUBA1C	84790	broad.mit.edu	37	12	49663412	49663413	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:49663412_49663413delGG	uc010smh.1	+	1	406_407	c.378_379delGG	c.(376-381)acgggtfs	p.T126fs	TUBA1C_uc001rtt.1_Frame_Shift_Del_p.T56fs	NM_032704	NP_116093	Q9BQE3	TBA1C_HUMAN	Homo sapiens tubulin, alpha 1c (TUBA1C), mRNA.	56					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						TCAGTGAAACGGGTGCTGGCAA	0.550													---	855	---	---	67	---					
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	1088	---	---	7	---					
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	235	---	---	11	---					
SLC39A5	283375	broad.mit.edu	37	12	56628997	56628999	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:56628997_56628999delCTG	uc010sqj.2	+	6	948_950	c.691_693delCTG	c.(691-693)ctgdel	p.L234del	SLC39A5_uc010sqi.2_In_Frame_Del_p.L125del|SLC39A5_uc010sqk.2_In_Frame_Del_p.L234del	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	234					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCCCTATCCCTGCTGCTGCTGC	0.635													---	1007	---	---	8	---					
CCDC63	160762	broad.mit.edu	37	12	111311658	111311659	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:111311658_111311659insA	uc001trv.1	+	4	577_578	c.382_383insA	c.(382-384)gaafs	p.E128fs	CCDC63_uc009zvt.1_Frame_Shift_Ins_p.E43fs|CCDC63_uc010sye.1_Frame_Shift_Ins_p.E88fs|CCDC63_uc001trw.1_Frame_Shift_Ins_p.E43fs	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	128										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TCTTCAGATGGAAAAAAAAATC	0.416													---	364	---	---	7	---					
POP5	51367	broad.mit.edu	37	12	121017154	121017156	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:121017154_121017156delCTC	uc001tys.3	-	4	493_495	c.457_459delGAG	c.(457-459)gagdel	p.E153del	POP5_uc001tyt.3_In_Frame_Del_p.E103del	NM_015918	NP_057002	Q969H6	POP5_HUMAN	Homo sapiens processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) (POP5), transcript variant 1, mRNA.	153					tRNA processing		protein binding|ribonuclease P activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517													---	677	---	---	8	---					
EP400	57634	broad.mit.edu	37	12	132445261	132445262	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:132445261_132445262delAA	uc001ujn.3	+	1	249_250	c.97_98delAA	c.(97-99)aacfs	p.N33fs	EP400_uc021rgq.1_Frame_Shift_Del_p.N33fs|EP400_uc001ujm.3_Frame_Shift_Del_p.N33fs|EP400_uc001ujj.2_Frame_Shift_Del_p.N33fs|EP400_uc001ujk.3_Frame_Shift_Del_p.N33fs	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	33					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCCCACCCCAACCCACCCCCG	0.653													---	93	---	---	7	---					
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr13:20041394delA	uc001umd.3	-	7	694	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	161						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303													---	402	---	---	14	---					
TSC22D1	8848	broad.mit.edu	37	13	45148691	45148693	+	In_Frame_Del	DEL	TGT	-	-	rs148625973		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr13:45148691_45148693delTGT	uc001uzn.4	-	0	2009_2011	c.1518_1520delACA	c.(1516-1521)caacag>cag	p.506_507QQ>Q	TSC22D1_uc001uzo.2_In_Frame_Del_p.506_507QQ>Q|TSC22D1-AS1_uc021rjb.1_5'Flank	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	506	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGgttgttgctgttgttgttgtt	0.502													---	706	---	---	9	---					
SLITRK5	26050	broad.mit.edu	37	13	88329794	88329796	+	In_Frame_Del	DEL	CGG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	405	---	---	7	---					
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr14:23845057_23845058delTG	uc001wjr.3	+	1	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	IL25_uc001wjq.3_Frame_Shift_Del_p.C152fs|CMTM5_uc010akn.3_5'Flank|CMTM5_uc001wju.3_5'Flank|CMTM5_uc010ako.3_5'Flank|CMTM5_uc001wjs.3_5'Flank|CMTM5_uc001wjt.3_5'Flank|CMTM5_uc010akm.3_5'Flank	NM_022789	NP_073626	Q9H293	IL25_HUMAN	Homo sapiens interleukin 25 (IL25), transcript variant 1, mRNA.	168					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604													---	578	---	---	8	---					
G2E3	55632	broad.mit.edu	37	14	31074771	31074772	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr14:31074771_31074772insA	uc001wqk.2	+	10	1225_1226	c.1071_1072insA	c.(1069-1074)attaaafs	p.I357fs	G2E3_uc010tpe.1_Intron|G2E3_uc010tpf.1_Frame_Shift_Ins_p.I311fs	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.	357					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GATTCCAAATTAAAAAAAAAAC	0.272													---	140	---	---	9	---					
FANCM	57697	broad.mit.edu	37	14	45642288	45642289	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr14:45642288_45642289delCT	uc001wwd.4	+	12	2290_2291	c.2191_2192delCT	c.(2191-2193)ctcfs	p.L731fs	FANCM_uc010anf.3_Frame_Shift_Del_p.L705fs|FANCM_uc001wwe.4_Frame_Shift_Del_p.L267fs|FANCM_uc010ang.3_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	731					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATTCATCAACTCTCTCTCTCT	0.347								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				---	444	---	---	7	---					
PTPN21	11099	broad.mit.edu	37	14	88940113	88940113	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr14:88940113delT	uc001xwv.4	-	13	2876	c.2545delA	c.(2545-2547)attfs	p.I849fs	PTPN21_uc010twc.2_Frame_Shift_Del_p.I645fs	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	849						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGAGGACCAATTTTTTTTGCA	0.393													---	541	---	---	7	---					
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	-	-	rs139532153		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	178	---	---	13	---					
C14orf49	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr14:95921888_95921890delCTC	uc001yei.4	-	4	976_978	c.961_963delGAG	c.(961-963)gagdel	p.E321del	C14orf49_uc010avi.3_In_Frame_Del_p.E321del|C14orf49_uc001yej.1_In_Frame_Del_p.E321del	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	321					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCCGCAGCCGCTCCTCCTCCTCC	0.616													---	648	---	---	9	---					
MOK	5891	broad.mit.edu	37	14	102718303	102718303	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr14:102718303delT	uc001ylm.3	-	4	539	c.313delA	c.(313-315)attfs	p.I105fs	MOK_uc010txv.2_Frame_Shift_Del_p.I75fs|MOK_uc001yln.3_5'UTR	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	Homo sapiens MOK protein kinase (MOK), mRNA.	105	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding										TAGTGCATAATTTTTTTTTCT	0.323													---	488	---	---	10	---					
C15orf24	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	727	---	---	7	---					
PLA2G4F	255189	broad.mit.edu	37	15	42439919	42439920	+	Frame_Shift_Ins	INS	-	C	C	rs139732075	by1000genomes	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr15:42439919_42439920insC	uc001zoz.3	-	11	1192_1193	c.1100_1101insG	c.(1099-1101)cgafs	p.R367fs	PLA2G4F_uc010bcq.3_5'Flank|PLA2G4F_uc001zoy.3_5'UTR|PLA2G4F_uc001zpa.3_Frame_Shift_Ins_p.R118fs|PLA2G4F_uc010bcr.3_Frame_Shift_Ins_p.R118fs|PLA2G4F_uc010bcs.3_Frame_Shift_Ins_p.R154fs	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	367	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AAGACATGGCTCGGGTTCCACC	0.554													---	483	---	---	7	---					
TTBK2	146057	broad.mit.edu	37	15	43038023	43038024	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	922	---	---	20	---					
TTBK2	146057	broad.mit.edu	37	15	43038025	43038026	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	950	---	---	8	---					
ARID3B	10620	broad.mit.edu	37	15	74888025	74888027	+	In_Frame_Del	DEL	CAG	-	-	rs141710149		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr15:74888025_74888027delCAG	uc002aye.3	+	8	1797_1799	c.1596_1598delCAG	c.(1594-1599)gccagc>gcc	p.S538del	ARID3B_uc002ayd.3_In_Frame_Del_p.S537del|CLK3_uc002ayf.1_5'Flank	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	538	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						gcagcagcgccagcagcagcagc	0.640													---	197	---	---	8	---					
VPS33B	26276	broad.mit.edu	37	15	91550236	91550238	+	In_Frame_Del	DEL	TCC	-	-	rs147271815		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr15:91550236_91550238delTCC	uc002bqp.1	-	8	996_998	c.642_644delGGA	c.(640-645)gaggat>gat	p.E214del	VPS33B_uc002bqq.1_In_Frame_Del_p.E123del|VPS33B_uc010uqu.1_In_Frame_Del_p.E187del	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog B (yeast) (VPS33B), mRNA.	214					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GGTTTCGCCATCCTCCTCCTCCT	0.522													---	804	---	---	14	---					
ABCA3	21	broad.mit.edu	37	16	2373622	2373622	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr16:2373622delA	uc002cpy.1	-	6	1227	c.515delT	c.(514-516)ttcfs	p.F172fs	ABCA3_uc010bsk.1_Frame_Shift_Del_p.F172fs|ABCA3_uc010bsl.1_Frame_Shift_Del_p.F172fs|ABCA3_uc002cpz.1_Frame_Shift_Del_p.F172fs	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	172					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.F172F(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTCTTTCAGGAAAAAGGAGCC	0.493													---	2450	---	---	7	---					
RSL1D1	26156	broad.mit.edu	37	16	11931770	11931770	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr16:11931770delT	uc002dbp.1	-	8	1420	c.1347delA	c.(1345-1347)aaafs	p.K449fs	RSL1D1_uc010buv.1_Frame_Shift_Del_p.K448fs|RSL1D1_uc010uyw.1_Frame_Shift_Del_p.K229fs	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	449					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						gtctcgcatcttttttcccca	0.463													---	1769	---	---	7	---					
C16orf62	57020	broad.mit.edu	37	16	19580800	19580802	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	346	---	---	13	---					
IL4R	3566	broad.mit.edu	37	16	27373787	27373789	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	359	---	---	8	---					
EIF3C	8663	broad.mit.edu	37	16	28734579	28734581	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	3809	---	---	16	---					
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	410	---	---	8	---					
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr16:30365550_30365552delCAT	uc002dxr.3	-	1	423_425	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	CD2BP2_uc002dxs.3_In_Frame_Del_p.D57del	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN	Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.	57					assembly of spliceosomal tri-snRNP	U5 snRNP|cytoplasm|nucleoplasm	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532													---	1666	---	---	8	---					
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr16:30982809_30982811delTCC	uc002ead.1	+	12	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1058	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547													---	365	---	---	18	---					
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	-	-	rs149029279		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr16:57486732_57486734delGAG	uc002elq.3	+	2	343_345	c.262_264delGAG	c.(262-264)gagdel	p.E91del	COQ9_uc002elp.2_In_Frame_Del_p.E91del|COQ9_uc010vhn.2_In_Frame_Del_p.E91del|COQ9_uc010vho.2_In_Frame_Del_p.E91del|COQ9_uc010vhp.2_In_Frame_Del_p.E91del	NM_020312	NP_064708	O75208	COQ9_HUMAN	Homo sapiens coenzyme Q9 homolog (S. cerevisiae) (COQ9), nuclear gene encoding mitochondrial protein, mRNA.	91					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576													---	728	---	---	11	---					
CMTM1	113540	broad.mit.edu	37	16	66603929	66603930	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr16:66603929_66603930insT	uc002epr.4	+	1	590_591	c.523_524insT	c.(523-525)gttfs	p.V175fs	CMTM1_uc021tjs.1_Intron|CMTM1_uc021tjt.1_Intron|CMTM1_uc021tju.1_Intron|CMTM1_uc002eph.4_Frame_Shift_Ins_p.V58fs|CMTM1_uc002epi.4_Frame_Shift_Ins_p.V58fs|CMTM1_uc002epl.4_Intron|CMTM1_uc002epj.4_Intron|CMTM1_uc002epk.4_Intron|CMTM1_uc002epa.4_Intron|CMTM1_uc002epb.4_Non-coding_Transcript|CMTM1_uc002epc.4_Non-coding_Transcript|CMTM1_uc002epd.4_Intron|CMTM1_uc002epe.4_Intron|CMTM1_uc002epf.4_Intron|CMTM1_uc002epg.4_Intron|CMTM1_uc002epm.4_Non-coding_Transcript|CMTM1_uc002epo.4_Non-coding_Transcript|CMTM1_uc002epp.4_Non-coding_Transcript|CMTM1_uc002epq.4_Non-coding_Transcript|CMTM1_uc010cds.3_Non-coding_Transcript|CMTM1_uc002epn.4_Frame_Shift_Ins_p.V175fs|CMTM1_uc002eps.3_Non-coding_Transcript	NM_052999	NP_443725	Q8IZ96	CKLF1_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 1 (CMTM1), transcript variant 17, mRNA.	58					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CTGCATTGTCGTTTTTTTTATT	0.347													---	892	---	---	8	---					
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr16:67300017_67300019delGAG	uc002esm.3	+	14	2170_2172	c.2107_2109delGAG	c.(2107-2109)gagdel	p.E708del	SLC9A5_uc010cee.3_In_Frame_Del_p.E413del|SLC9A5_uc010vji.2_In_Frame_Del_p.E212del	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	708					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571													---	385	---	---	22	---					
RANBP10	57610	broad.mit.edu	37	16	67763279	67763281	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr16:67763279_67763281delGAG	uc002eud.3	-	9	1370_1372	c.1254_1256delCTC	c.(1252-1257)tcctcg>tcg	p.418_419SS>S	RANBP10_uc010ceo.3_In_Frame_Del_p.189_190SS>S|RANBP10_uc010vju.2_In_Frame_Del_p.362_363SS>S|RANBP10_uc010vjv.2_In_Frame_Del_p.301_302SS>S|RANBP10_uc010vjw.1_In_Frame_Del_p.79_80SS>S	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	418	Ser-rich.							p.S418S(4)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ggaagaggacgaggaggaggagg	0.567													---	232	---	---	8	---					
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	1194	---	---	18	---					
WRAP53	55135	broad.mit.edu	37	17	7606714	7606715	+	Frame_Shift_Ins	INS	-	G	G	rs146634933		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:7606714_7606715insG	uc010vuh.2	+	10	1712_1713	c.1557_1558insG	c.(1555-1560)tgtgggfs	p.C519fs	WRAP53_uc010vui.2_Frame_Shift_Ins_p.C519fs|WRAP53_uc002gip.3_Frame_Shift_Ins_p.C519fs|WRAP53_uc002gir.3_Frame_Shift_Ins_p.C519fs|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Frame_Shift_Ins_p.C486fs|EFNB3_uc002gis.3_5'Flank	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	519					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TCTGGTGGTGTGGGGGGGCGCC	0.599													---	358	---	---	7	---					
CHD3	1107	broad.mit.edu	37	17	7796803	7796804	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:7796803_7796804insC	uc002gjd.2	+	4	888_889	c.886_887insC	c.(886-888)tccfs	p.S296fs	CHD3_uc002gje.2_Frame_Shift_Ins_p.S237fs|CHD3_uc002gjf.2_Frame_Shift_Ins_p.S237fs|CHD3_uc002gjg.1_Frame_Shift_Ins_p.S69fs	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	237					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)				CATAGCACCCTCCGGACCCCCC	0.653													---	186	---	---	10	---					
CHD3	1107	broad.mit.edu	37	17	7801857	7801859	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	316	---	---	10	---					
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:27001303_27001305delGAG	uc010crt.3	+	3	304_306	c.112_114delGAG	c.(112-114)gagdel	p.E43del	SUPT6H_uc002hby.3_In_Frame_Del_p.E43del	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	43	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity	p.E42D(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTTCCAGATGAGGAGGAGGAGG	0.453													---	256	---	---	8	---					
SLFN12	55106	broad.mit.edu	37	17	33749493	33749493	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	554	---	---	8	---					
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:34071994_34071996delTCC	uc002hjv.2	-	5	2548_2550	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	840					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616													---	374	---	---	8	---					
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:38978766_38978768delTCC	uc002hvi.3	-	0	96_98	c.70_72delGGA	c.(70-72)ggadel	p.G24del	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547													---	193	---	---	20	---					
HOXB2	3212	broad.mit.edu	37	17	46622130	46622132	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	889	---	---	10	---					
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:48433967delC	uc002iqo.3	+	7	1687	c.1578delC	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATGGCAGCTACCCCCCCGGCA	0.602													---	798	---	---	9	---					
SPAG9	9043	broad.mit.edu	37	17	49157025	49157025	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:49157025delT	uc002itc.3	-	1	553	c.344delA	c.(343-345)aagfs	p.K115fs	SPAG9_uc002itd.3_Frame_Shift_Del_p.K115fs|SPAG9_uc002itb.3_Frame_Shift_Del_p.K115fs|SPAG9_uc002itf.3_5'UTR	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	115					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTGTAAGTCCTTTTTTTCCTG	0.313													---	1189	---	---	8	---					
BZRAP1	9256	broad.mit.edu	37	17	56387404	56387406	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	389	---	---	12	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:61899155_61899157delCTC	uc002jbz.3	-	13	1600_1602	c.1522_1524delGAG	c.(1522-1524)gagdel	p.E508del	FTSJ3_uc002jca.3_In_Frame_Del_p.E508del	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	508					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						GCAGTGGATTCTCCTCCTCCTCC	0.537													---	1003	---	---	15	---					
BPTF	2186	broad.mit.edu	37	17	65822267	65822269	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:65822267_65822269delGAG	uc002jgf.3	+	0	488_490	c.427_429delGAG	c.(427-429)gagdel	p.E148del	BPTF_uc002jge.3_In_Frame_Del_p.E148del|BPTF_uc010wqm.1_In_Frame_Del_p.E148del	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	148	Glu-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.E143*(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			catggtctccgaggaggaggagg	0.635													---	107	---	---	11	---					
CD300A	11314	broad.mit.edu	37	17	72469708	72469709	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:72469708_72469709insG	uc002jkv.3	+	1	395_396	c.74_75insG	c.(73-75)gcgfs	p.A25fs	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.	25	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity	p.V24M(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGGACCGTGGCGGGCCCCGTGG	0.569													---	690	---	---	8	---					
CD300A	11314	broad.mit.edu	37	17	72469711	72469712	+	Frame_Shift_Ins	INS	-	GC	GC			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	667	---	---	14	---					
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	306	---	---	21	---					
OSBPL1A	114876	broad.mit.edu	37	18	21745096	21745097	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr18:21745096_21745097insT	uc002kve.3	-	26	2899_2900	c.2682_2683insA	c.(2680-2685)aaacgafs	p.K894fs	OSBPL1A_uc002kvd.3_Frame_Shift_Ins_p.K381fs|OSBPL1A_uc010xbc.2_Frame_Shift_Ins_p.K512fs	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	894					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)					TCCTCAAGTCGTTTTTTTTCTT	0.460													---	913	---	---	7	---					
DENND1C	79958	broad.mit.edu	37	19	6477251	6477251	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:6477251delG	uc002mfe.3	-	7	583	c.491delC	c.(490-492)cctfs	p.P164fs	DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Frame_Shift_Del_p.P120fs	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	164	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCCCCGGGTAGGGGGGGGGAT	0.672													---	214	---	---	13	---					
SLC7A9	11136	broad.mit.edu	37	19	33353391	33353393	+	In_Frame_Del	DEL	TGA	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	404	---	---	7	---					
LSM14A	26065	broad.mit.edu	37	19	34710340	34710340	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:34710340delC	uc002nvb.4	+	6	1022	c.826delC	c.(826-828)cggfs	p.R276fs	LSM14A_uc002nva.4_Frame_Shift_Del_p.R276fs|LSM14A_uc010xru.2_Frame_Shift_Del_p.R235fs|LSM14A_uc002nvc.4_Frame_Shift_Del_p.R82fs	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	276					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TGGGGGTCATCGGGGTGGCAG	0.438													---	792	---	---	9	---					
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:36583666_36583668delGCA	uc002odd.2	+	18	2377_2379	c.2286_2288delGCA	c.(2284-2289)cggcag>cgg	p.Q766del	WDR62_uc002odc.2_In_Frame_Del_p.Q766del	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	766					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616													---	976	---	---	7	---					
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	1471	---	---	10	---					
ZC3H4	23211	broad.mit.edu	37	19	47572401	47572403	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	720	---	---	8	---					
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:50310483_50310485delCAG	uc002ppq.2	-	10	1384_1386	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_In_Frame_Del_p.L358del	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA.	394	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635													---	313	---	---	12	---					
LILRB2	10288	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	797	---	---	22	---					
ZNF549	256051	broad.mit.edu	37	19	58049994	58049994	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:58049994delA	uc002qpb.2	+	3	1871	c.1622delA	c.(1621-1623)caafs	p.Q541fs	ZNF549_uc002qpa.2_Frame_Shift_Del_p.Q528fs	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E541*(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCAGCCACCAAAAAAGACTT	0.438													---	545	---	---	7	---					
GINS1	9837	broad.mit.edu	37	20	25422397	25422397	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr20:25422397delA	uc002wuv.1	+	5	641	c.507delA	c.(505-507)ttafs	p.L169fs	GINS1_uc010zte.1_Non-coding_Transcript	NM_021067	NP_066545	Q14691	PSF1_HUMAN	Homo sapiens GINS complex subunit 1 (Psf1 homolog) (GINS1), mRNA.	169					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		p.N172fs*14(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						CAGTCCTATTAAAAAAAAATA	0.299													---	439	---	---	17	---					
ZMYND8	23613	broad.mit.edu	37	20	45875072	45875072	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr20:45875072delT	uc010zxy.1	-	13	2067	c.1985delA	c.(1984-1986)aagfs	p.K662fs	ZMYND8_uc010ghq.1_Frame_Shift_Del_p.K312fs|ZMYND8_uc010ghr.1_Frame_Shift_Del_p.K610fs|ZMYND8_uc002xst.1_Frame_Shift_Del_p.K563fs|ZMYND8_uc002xsu.1_Frame_Shift_Del_p.K635fs|ZMYND8_uc002xsv.1_Frame_Shift_Del_p.K563fs|ZMYND8_uc002xsw.1_Frame_Shift_Del_p.K387fs|ZMYND8_uc002xsx.1_Frame_Shift_Del_p.K387fs|ZMYND8_uc002xsy.1_Frame_Shift_Del_p.K610fs|ZMYND8_uc002xsz.1_Frame_Shift_Del_p.K572fs|ZMYND8_uc002xta.1_Frame_Shift_Del_p.K635fs|ZMYND8_uc002xtb.1_Frame_Shift_Del_p.K655fs|ZMYND8_uc002xss.2_Frame_Shift_Del_p.K635fs|ZMYND8_uc010zxz.1_Frame_Shift_Del_p.K630fs|ZMYND8_uc002xtc.1_Frame_Shift_Del_p.K655fs|ZMYND8_uc002xtd.1_Frame_Shift_Del_p.K630fs|ZMYND8_uc002xte.1_Frame_Shift_Del_p.K635fs|ZMYND8_uc010zya.1_Frame_Shift_Del_p.K635fs|ZMYND8_uc002xtf.1_Frame_Shift_Del_p.K655fs|ZMYND8_uc002xtg.3_Frame_Shift_Del_p.K629fs|ZMYND8_uc010ghs.2_Frame_Shift_Del_p.K629fs	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	635							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)			AGGCTTGGGCTTTTTTTTAAC	0.488													---	973	---	---	7	---					
KCNB1	3745	broad.mit.edu	37	20	47989891	47989891	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr20:47989891delG	uc002xur.1	-	1	2372	c.2206delC	c.(2206-2208)cggfs	p.R736fs	KCNB1_uc002xus.1_Frame_Shift_Del_p.R736fs	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	736					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCAGGAGACCGGGGGGGTGTC	0.562													---	580	---	---	10	---					
SYCP2	10388	broad.mit.edu	37	20	58452518	58452519	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr20:58452518_58452519insT	uc002yaz.3	-	31	3210_3211	c.3071_3072insA	c.(3070-3072)aacfs	p.N1024fs		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1024					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.N1024fs*3(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATCTTTATAGTTTTTTTTTGT	0.327													---	343	---	---	7	---					
YTHDF1	54915	broad.mit.edu	37	20	61833650	61833652	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr20:61833650_61833652delCCT	uc002yeh.3	-	3	1934_1936	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_uc011aaq.2_In_Frame_Del_p.E497del	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	547										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557													---	641	---	---	13	---					
C21orf59	56683	broad.mit.edu	37	21	33949091	33949091	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr21:33949091delC	uc002ypw.4	-	4	757	c.641delG	c.(640-642)ggtfs	p.G214fs		NM_144659	NP_653260	P57076	CU059_HUMAN	Homo sapiens t-complex 10 (mouse)-like (TCP10L), mRNA.	0						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						TCTTCAGACACCCCCCCGTCT	0.478													---	602	---	---	8	---					
PRDM15	63977	broad.mit.edu	37	21	43221415	43221417	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	503	---	---	10	---					
PWP2	5822	broad.mit.edu	37	21	45535692	45535694	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	210	---	---	8	---					
MKL1	57591	broad.mit.edu	37	22	40816887	40816889	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr22:40816887_40816889delTGC	uc003ayv.1	-	6	1050_1052	c.843_845delGCA	c.(841-846)cagcac>cac	p.Q281del	MKL1_uc010gyf.1_In_Frame_Del_p.Q231del|MKL1_uc003ayw.1_In_Frame_Del_p.Q281del|MKL1_uc010gye.1_In_Frame_Del_p.Q281del	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	281	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.660			T	RBM15	acute megakaryocytic leukemia								---	269	---	---	7	---					
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr22:41650469_41650471delTCC	uc003azs.3	-	9	2571_2573	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_uc003azt.3_In_Frame_Del_p.367_368EE>E|RANGAP1_uc003azu.3_In_Frame_Del_p.367_368EE>E|RANGAP1_uc011aoz.2_In_Frame_Del_p.312_313EE>E	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	367	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562													---	540	---	---	29	---					
TCF20	6942	broad.mit.edu	37	22	42605990	42605992	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr22:42605990_42605992delCTG	uc003bcj.1	-	0	5454_5456	c.5320_5322delCAG	c.(5320-5322)cagdel	p.Q1774del	TCF20_uc003bck.1_In_Frame_Del_p.Q1774del	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1774					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						TCTGCTCCTTCTGCTGCTGCTGC	0.601													---	527	---	---	10	---					
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	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													---	484	---	---	16	---					
MLC1	23209	broad.mit.edu	37	22	50506871	50506872	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr22:50506871_50506872insG	uc003bjg.1	-	9	1157_1158	c.884_885insC	c.(883-885)ccafs	p.P295fs	MLC1_uc011arl.1_Frame_Shift_Ins_p.P243fs|MLC1_uc003bjh.1_Frame_Shift_Ins_p.P295fs|MLC1_uc011arm.1_Frame_Shift_Ins_p.P265fs|MLC1_uc011arn.1_Frame_Shift_Ins_p.P216fs|MLC1_uc011aro.1_Frame_Shift_Ins_p.P261fs	NM_139202	NP_631941	Q15049	MLC1_HUMAN	Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA.	295						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CTTTTATGGCTGGCGGGTAATC	0.525													---	560	---	---	8	---					
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:16850849_16850850delAG	uc004cxq.2	+	5	1024_1025	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_uc010ney.2_Frame_Shift_Del_p.Q191fs|TXLNG_uc004cxr.1_5'Flank	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	Homo sapiens taxilin gamma (TXLNG), transcript variant 1, mRNA.	323					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386													---	478	---	---	10	---					
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:21627678_21627680delGAG	uc004czx.2	+	19	3115_3117	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_uc004czw.3_In_Frame_Del_p.E886del|CNKSR2_uc011mjn.2_In_Frame_Del_p.E837del|CNKSR2_uc011mjo.2_In_Frame_Del_p.E856del|CNKSR2_uc004czy.3_In_Frame_Del_p.E478del	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	886	Poly-Glu.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517													---	304	---	---	23	---					
PRRG1	5638	broad.mit.edu	37	X	37312611	37312611	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:37312611delC	uc004ddn.3	+	4	647	c.394delC	c.(394-396)cccfs	p.P132fs	PRRG1_uc004ddo.3_Frame_Shift_Del_p.P132fs|PRRG1_uc022buu.1_Frame_Shift_Del_p.P132fs|PRRG1_uc022buv.1_Frame_Shift_Del_p.P132fs	NM_000950	NP_001166961	O14668	TMG1_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA.	132	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488													---	1082	---	---	20	---					
RPS26P11	441502	broad.mit.edu	37	X	71264810	71264810	+	Splice_Site	DEL	A	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:71264810delA	uc004eai.3	+	1		c.553_splice	c.e1+1		NHSL2_uc011mqa.2_Intron					Homo sapiens ribosomal protein S26 pseudogene 11 (RPS26P11), non-coding RNA.											endometrium(1)|lung(1)|prostate(2)	4						AATTGTACTTAAAAAAAAAAA	0.448													---	58	---	---	13	---					
NAP1L3	4675	broad.mit.edu	37	X	92928035	92928036	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:92928035_92928036insC	uc004efq.3	-	0	647_648	c.268_269insG	c.(268-270)gccfs	p.A90fs	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	90					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCCCAACGGGGCCCGCCGCGCC	0.564													---	243	---	---	7	---					
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:135585048_135585050delAAG	uc004ezw.3	+	5	1104_1106	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_uc004ezx.3_In_Frame_Del_p.K232del	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	232	Poly-Lys.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335													---	763	---	---	12	---					
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:151303906_151303908delAGG	uc022cgz.1	-	0	185_187	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_In_Frame_Del_p.S62del|MAGEA10_uc004ffm.2_In_Frame_Del_p.S62del|MAGEA10_uc004ffl.3_In_Frame_Del_p.S62del	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	62	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562													---	658	---	---	20	---					
