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
TUBBP5	643224	broad.mit.edu	37	9	141070687	141070687	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr9:141070687C>T	uc010ncq.3	+	4	1462	c.622C>T	c.(622-624)Caa>Taa	p.Q208*						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		ACAACTGGGCCAAGGGACGCT	0.577000														27			4		0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107535878	107535878	+	Silent	SNP	G	A	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:107535878G>A	uc010rvs.2	+	11	1364	c.960G>A	c.(958-960)gcG>gcA	p.A320A	ELMOD1_uc001pjm.3_Silent_p.A312A|ELMOD1_uc010rvt.2_Silent_p.A314A	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	320					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CAGACATGGCGCTGTGCCCAC	0.478000														566			127		0	0	1	0	0
TTC19	54902	broad.mit.edu	37	17	15909860	15909860	+	Silent	SNP	A	G	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:15909860A>G	uc002gph.2	+	6	1123	c.1017A>G	c.(1015-1017)gaA>gaG	p.E339E	TTC19_uc021tqp.1_Non-coding_Transcript	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN	Homo sapiens tetratricopeptide repeat domain 19 (TTC19), transcript variant 1, mRNA.	218					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAGAAAAGGAATTAGCAGAAG	0.363000														317			53		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587730	204587730	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:204587730C>T	uc021phy.1	-	0	1391	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.R464Q|LRRN2_uc001hbf.1_Missense_Mutation_p.R464Q|LRRN2_uc009xbf.1_Missense_Mutation_p.R464Q|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	464	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGGTGTCAGTCGAAGCCCAGC	0.637000														214			16		0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413573	68413573	+	RNA	SNP	G	C	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr9:68413573G>C	uc004aex.3	+	0		c.128G>C								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CAGTGGCGCCGGATCTAGGAA	0.597000														12			4		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30749733	30749733	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:30749733C>T	uc002dze.1	+	33	8757	c.8372C>T	c.(8371-8373)cCg>cTg	p.P2791L	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P2586L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2791	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.P2791L(2)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCGGGAAGCCCGTCTGTCCGC	0.662000														349			18		0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69689654	69689654	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:69689654C>T	uc002exm.2	+	4	1430	c.1094C>T	c.(1093-1095)aCt>aTt	p.T365I	NFAT5_uc002exj.2_Missense_Mutation_p.T289I|NFAT5_uc002exk.2_Missense_Mutation_p.T289I|NFAT5_uc002exl.2_Missense_Mutation_p.T383I|NFAT5_uc002exn.2_Missense_Mutation_p.T383I|NFAT5_uc002exh.2_Missense_Mutation_p.T159I|NFAT5_uc002exi.3_Missense_Mutation_p.T289I	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	365	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATTGAAGGCACTACTGTTATA	0.423000														372			23		0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413572	68413572	+	RNA	SNP	C	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr9:68413572C>T	uc004aex.3	+	0		c.127C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CCAGTGGCGCCGGATCTAGGA	0.597000														14			4		0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58010135	58010135	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:58010135C>T	uc001spb.3	+	13	1949	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	ARHGEF25_uc009zpy.3_Missense_Mutation_p.P536S|ARHGEF25_uc001spa.3_Missense_Mutation_p.P391S|BC073932_uc001spc.3_Intron	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 25 (ARHGEF25), transcript variant 1, mRNA.	497					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GCCAAGAGGGCCTGGAGTGGG	0.592000														294			50		0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77937956	77937956	+	Silent	SNP	C	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:77937956C>T	uc001ozh.3	-	3	864	c.762G>A	c.(760-762)ccG>ccA	p.P254P	GAB2_uc001ozg.3_Silent_p.P216P	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	254					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TGTGCCGGCTCGGCTTGGGAA	0.572000														278			17		0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165548002	165548002	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:165548002A>C	uc003fem.4	-	1	980	c.820T>G	c.(820-822)Tta>Gta	p.L274V	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	274					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AATTTAGCTAAGTTCAACGTT	0.388000														430			68		0	0	1	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100336	27100336	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:27100336G>A	uc003niv.3	-	0	240	c.194C>T	c.(193-195)tCg>tTg	p.S65L	HIST1H2BJ_uc003niu.1_Non-coding_Transcript|HIST1H2AG_uc003niw.3_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	Homo sapiens histone cluster 1, H2bj (HIST1H2BJ), mRNA.	65					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GTTCACAAACGAATTCATGAT	0.562000														825			50		0	0	1	0	0
LOC650623	650623	broad.mit.edu	37	10	81443180	81443180	+	RNA	SNP	G	A	A	rs150662545	by1000genomes	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:81443180G>A	uc010qlu.2	+	0		c.450G>A								Homo sapiens BEN domain containing 3 pseudogene (LOC650623), non-coding RNA.																		ACAGCCCCTCGCTGCTTAGGC	0.547000														116			7		0	0	1	0	0
C15orf59	388135	broad.mit.edu	37	15	74032751	74032751	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:74032751G>A	uc002avy.3	-	1	734	c.389C>T	c.(388-390)tCg>tTg	p.S130L		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	Homo sapiens chromosome 15 open reading frame 59 (C15orf59), mRNA.	130								p.E129K(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGGCCGAGTCGACTCGGGACC	0.627000														459			63		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68190978	68190978	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:68190978A>T	uc001ont.3	+	13	3124	c.3049A>T	c.(3049-3051)Agc>Tgc	p.S1017C	LRP5_uc009ysg.3_Missense_Mutation_p.S427C	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1017	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACCTCTCTGAGCCAAGGCCA	0.587000														515			89		0	0	1	0	0
SHQ1	55164	broad.mit.edu	37	3	72893552	72893552	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:72893552C>T	uc003dpf.3	-	1	273	c.166G>A	c.(166-168)Gta>Ata	p.V56I	SHQ1_uc010hod.3_5'UTR	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA.	56	CS.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	p.V56L(2)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CCATTTTCTACAATTCTTCCA	0.333000														220			18		0	0	1	0	0
SDCBP	6386	broad.mit.edu	37	8	59490601	59490601	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:59490601G>T	uc003xtn.3	+	5	562	c.412G>T	c.(412-414)Gtt>Ttt	p.V138F	SDCBP_uc003xto.3_Missense_Mutation_p.V137F|SDCBP_uc003xtr.3_Missense_Mutation_p.V137F|SDCBP_uc003xtq.3_Missense_Mutation_p.V138F|SDCBP_uc003xtp.3_Missense_Mutation_p.V132F|SDCBP_uc003xts.3_Missense_Mutation_p.V144F|SDCBP_uc011led.2_Intron	NM_005625	NP_005616	O00560	SDCB1_HUMAN	Homo sapiens syndecan binding protein (syntenin) (SDCBP), transcript variant 1, mRNA.	138	PDZ 1.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein N-terminus binding|protein heterodimerization activity|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGGTATATTTGTTCAGCTAGT	0.378000														252			32		3.90053e-15	4.16056e-15	1	1	0
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	G	G	rs17851045		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:25380275T>G	uc001rgp.1	-	2	364	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_uc001rgq.1_Missense_Mutation_p.Q61H	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(361)|p.Q61L(71)|p.Q61R(56)|p.Q61K(32)|p.Q61P(12)|p.Q61E(10)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60G(1)|p.G60A(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423000	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				269			28		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	T	T	rs68140816		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:7579311C>T	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.3_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site_p.T86_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGGCAACTGACCGTGCAAGTC	0.532000		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)				326			47		0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47038526	47038526	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:47038526C>T	uc004dhi.3	+	7	1112	c.883C>T	c.(883-885)Cga>Tga	p.R295*	RBM10_uc004dhe.2_3'UTR|RBM10_uc004dhf.3_Nonsense_Mutation_p.R230*|RBM10_uc004dhh.3_Nonsense_Mutation_p.R230*|RBM10_uc010nhq.3_Nonsense_Mutation_p.R153*|RBM10_uc004dhg.3_Nonsense_Mutation_p.R153*	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	230					RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CTTCAAACGCCGAGAGAAGTG	0.597000														99			8		0	0	1	0	0
KCNK3	3777	broad.mit.edu	37	2	26951301	26951301	+	Silent	SNP	C	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:26951301C>T	uc002rhn.2	+	1	1213	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G		NM_002246	NP_002237	O14649	KCNK3_HUMAN	Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.	350					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGGAGGGGGCGGCCGCTACA	0.701000														47			5		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65678310	65678310	+	Silent	SNP	T	G	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:65678310T>G	uc002aou.1	-	17	3249	c.3039A>C	c.(3037-3039)ccA>ccC	p.P1013P	IGDCC4_uc002aot.1_Silent_p.P601P	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	1013						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CATGGGCAGCTGGGGGGCTGG	0.667000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		82			11		0	0	1	0	0
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr9:35906559A>C	uc003zyr.1	+	0	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P	LOC158376_uc003zys.1_5'Flank	NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA.	92	His-rich.					integral to membrane		p.H92P(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682000														50			14		0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70367880	70367880	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:70367880C>T	uc004dzd.2	+	1	615	c.281C>T	c.(280-282)tCg>tTg	p.S94L	NLGN3_uc004dzb.3_Missense_Mutation_p.S94L|NLGN3_uc011mps.2_Missense_Mutation_p.S94L|NLGN3_uc004dzc.3_Intron|NLGN3_uc011mpr.1_Missense_Mutation_p.S94L	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	94					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCATCCTGGTCGGGCATCCGG	0.632000														225			20		0	0	1	0	0
CACNB1	782	broad.mit.edu	37	17	37334238	37334238	+	Splice_Site	SNP	G	T	T	rs143114489		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:37334238G>T	uc002hrm.2	-	12	1354	c.1146_splice	c.e12+1	p.P382_splice	CACNB1_uc002hrl.1_Splice_Site_p.P154_splice|CACNB1_uc002hrn.3_Splice_Site_p.P382_splice|CACNB1_uc002hro.3_Splice_Site_p.P427_splice	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	382					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GGCACTCACAGGGGGGCACTG	0.537000														459			47		8.94452e-30	9.86982e-30	1	1	0
BC107568	0	broad.mit.edu	37	GL000195.1	138078	138078	+	RNA	SNP	T	C	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrGL000195.1:138078T>C	uc003won.1	+	0		c.112T>C								Homo sapiens cDNA clone IMAGE:3683736.																		TGTTGCCCTGTGATCTGTAGG	0.597000														23			6		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903661	5903661	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:5903661G>A	uc002wmg.3	+	3	1177	c.871G>A	c.(871-873)Gac>Aac	p.D291N	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	291						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGCAGGCCCGACAGGTCCTC	0.582000														86			8		0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64719038	64719038	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:64719038A>T	uc010nko.3	+	2	975	c.908A>T	c.(907-909)gAc>gTc	p.D303V		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	292							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACTACCGAGACCTTCAAGTT	0.433000														382			37		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10597887	10597887	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:10597887C>A	uc010rcc.1	-	20	3117	c.2731G>T	c.(2731-2733)Gag>Tag	p.E911*	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Nonsense_Mutation_p.E903*|MRVI1_uc001miw.2_Nonsense_Mutation_p.E902*|MRVI1_uc001mix.3_Nonsense_Mutation_p.E596*|MRVI1_uc001miz.2_Nonsense_Mutation_p.E820*|MRVI1_uc010rcd.1_Nonsense_Mutation_p.E705*|MRVI1_uc009ygd.1_Nonsense_Mutation_p.E596*	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	884					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCCTACTGCTCTGTAGGCTGC	0.577000														145			19		2.4624e-09	2.5835e-09	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93711219	93711219	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:93711219G>C	uc001khr.3	+	4	558	c.460G>C	c.(460-462)Ggc>Cgc	p.G154R	BTAF1_uc009xua.1_Non-coding_Transcript	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	154					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAAGAAACTTGGCCTTAATAT	0.363000														312			20		0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452457	130452457	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:130452457T>A	uc003enj.3	-	3	1966	c.1385A>T	c.(1384-1386)tAc>tTc	p.Y462F		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	462					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGGCAGAATGTATTCCGGATA	0.438000														369			56		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29624093	29624093	+	Splice_Site	SNP	G	T	T	rs75468660		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:29624093G>T	uc010ztl.1	+	1	58	c.26_splice	c.e1+1	p.R9_splice	FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.?(6)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTGATTCCAGGTGAGCTTATG	0.299000														59			5		0.00307968	0.00307968	1	1	0
FAT4	79633	broad.mit.edu	37	4	126412333	126412333	+	Missense_Mutation	SNP	G	A	A	rs138173652		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:126412333G>A	uc003ifj.4	+	16	14356	c.14356G>A	c.(14356-14358)Gga>Aga	p.G4786R	FAT4_uc011cgp.2_Missense_Mutation_p.G3027R|FAT4_uc003ifi.1_Missense_Mutation_p.G2263R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4786					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCTCCAGTCGGACTTTCTAT	0.527000														326			34		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468444	66468444	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:66468444C>G	uc001ojd.3	-	15	3198	c.3126G>C	c.(3124-3126)gaG>gaC	p.E1042D		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1042					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGGTCTGCACCTCTCTCAGCC	0.692000														198			37		0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3691377	3691377	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:3691377G>A	uc002qya.3	+	6	633	c.485G>A	c.(484-486)cGc>cAc	p.R162H	COLEC11_uc002qxz.3_Missense_Mutation_p.R159H|COLEC11_uc002qyb.3_Missense_Mutation_p.R138H|COLEC11_uc002qyc.3_Missense_Mutation_p.R138H|COLEC11_uc010ewo.3_Missense_Mutation_p.R114H|COLEC11_uc010ewp.3_Missense_Mutation_p.R136H|COLEC11_uc010ewq.3_Missense_Mutation_p.R112H|COLEC11_uc010ewr.3_Missense_Mutation_p.R112H|COLEC11_uc010ews.3_Missense_Mutation_p.R88H	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA.	162	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GAGGAGAAGCGCTACGCGGAC	0.637000														256			27		0	0	1	0	0
FAM182B	728882	broad.mit.edu	37	20	25848685	25848685	+	RNA	SNP	G	C	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:25848685G>C	uc002wvd.1	-	0		c.102C>G								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						ggccctttgggactcctggca	0.672000														22			3		0	0	1	0	0
MIDN	90007	broad.mit.edu	37	19	1257115	1257115	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:1257115C>A	uc002lrp.3	+	7	1766	c.1251C>A	c.(1249-1251)caC>caA	p.H417Q		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	Homo sapiens midnolin (MIDN), mRNA.	417						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCGTACCACTGGTCACCCA	0.706000														183			15		7.93312e-07	8.18903e-07	1	1	0
CYP7A1	1581	broad.mit.edu	37	8	59404129	59404129	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:59404129C>G	uc003xtm.4	-	5	1483	c.1420G>C	c.(1420-1422)Gct>Cct	p.A474P		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	474					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGACATTTAGCTTGGCCCTCT	0.388000									Neonatal Giant Cell Hepatitis					283			29		0	0	1	0	0
CYP2D7P1	1564	broad.mit.edu	37	22	42538870	42538870	+	Missense_Mutation	SNP	A	C	C	rs2982057	by1000genomes	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr22:42538870A>C	uc003bci.3	-	2	475	c.94T>G	c.(94-96)Tcg>Gcg	p.S32A	CYP2D7P1_uc003bcg.3_5'Flank|CYP2D7P1_uc010gyv.3_Intron|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_5'Flank|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.S32A					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000														108			7		0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53558534	53558534	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:53558534C>T	uc001xai.3	-	3	1488	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	DDHD1_uc001xaj.3_Missense_Mutation_p.D427N|DDHD1_uc001xah.3_Missense_Mutation_p.D420N|DDHD1_uc001xag.3_Missense_Mutation_p.D2N	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	420					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	p.D420H(3)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCCTTGGTCCATTTTCTGC	0.363000														368			60		0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127806138	127806138	+	Silent	SNP	G	A	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:127806138G>A	uc002tns.2	-	18	2130	c.1746C>T	c.(1744-1746)ggC>ggT	p.G582G	BIN1_uc010yzf.2_Silent_p.G374G|BIN1_uc002tnt.2_Silent_p.G398G|BIN1_uc010yzg.2_Silent_p.G459G|BIN1_uc002tnu.2_Silent_p.G413G|BIN1_uc002tnv.2_Silent_p.G539G|BIN1_uc002tnw.2_Silent_p.G486G|BIN1_uc002tnx.2_Silent_p.G443G|BIN1_uc002tny.2_Silent_p.G495G|BIN1_uc002tnz.2_Silent_p.G507G|BIN1_uc002toa.2_Silent_p.G471G|BIN1_uc002tob.2_Silent_p.G428G|BIN1_uc002toc.2_Silent_p.G464G	NM_139343	NP_647593	O00499	BIN1_HUMAN	Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA.	582	SH3.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		p.G582G(2)|p.G582V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CGGGGAAGACGCCACGGCACT	0.622000														346			29		0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13534699	13534699	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:13534699A>T	uc001imm.2	-	4	890	c.593T>A	c.(592-594)cTa>cAa	p.L198Q	BEND7_uc001imo.4_Missense_Mutation_p.L211Q	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	250							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						GAGAGCAGATAGCTCAGAGGC	0.522000														666			53		0	0	1	0	0
RPS11	6205	broad.mit.edu	37	19	50000840	50000840	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:50000840C>T	uc002pob.1	+	2	291	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	SNORD35B_uc002poc.3_5'Flank	NM_001015	NP_001006	P62280	RS11_HUMAN	Homo sapiens ribosomal protein S11 (RPS11), mRNA.	71					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CATTCGAGGGCGGATCCTCTC	0.537000														403			58		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23870014	23870014	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:23870014G>C	uc001wjv.3	-	12	1385	c.1314C>G	c.(1312-1314)aaC>aaG	p.N438K	MYH6_uc010akp.2_Missense_Mutation_p.N438K	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	438	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCACCATCCAGTTGAACATCT	0.562000														380			28		0	0	1	0	0
ZNF653	115950	broad.mit.edu	37	19	11596575	11596575	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:11596575T>C	uc002mrz.2	-	6	1603	c.1466A>G	c.(1465-1467)aAt>aGt	p.N489S		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	Homo sapiens zinc finger protein 653 (ZNF653), mRNA.	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						ATGCACAAGATTGACGTGGTT	0.562000														440			52		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151164707	151164707	+	Missense_Mutation	SNP	C	T	T	rs35114212	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:151164707C>T	uc011bod.2	-	3	3062	c.3062G>A	c.(3061-3063)cGg>cAg	p.R1021Q		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1021					cell differentiation|multicellular organismal development|ossification	extracellular region		p.R1021Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGATAATCCGCCCCCTTCC	0.473000														371			26		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821413	5821413	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:5821413G>A	uc010ndi.3	-	5	1881	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	NLGN4X_uc004crp.3_Missense_Mutation_p.R456W|NLGN4X_uc010ndh.3_Missense_Mutation_p.R436W|NLGN4X_uc004crq.3_Missense_Mutation_p.R436W|NLGN4X_uc004crr.3_Missense_Mutation_p.R436W|NLGN4X_uc010ndj.3_Missense_Mutation_p.R436W	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	436					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTTTTCCGCCGCGTCTCCGGG	0.602000														234			24		0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6680069	6680071	+	In_Frame_Del	DEL	GAA	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	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													---	343	---	---	8	---					
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:40713708_40713709delTC	uc001cfe.2	+	0	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs		NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	Homo sapiens transmembrane and coiled-coil domains 2 (TMCO2), mRNA.	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													---	882	---	---	10	---					
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:155886422_155886423delCT	uc001fmi.1	-	11	1570_1571	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_uc001fmj.1_Frame_Shift_Del_p.R516fs|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	516								p.R516fs*21(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													---	845	---	---	7	---					
AXDND1	126859	broad.mit.edu	37	1	179337955	179337955	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:179337955delA	uc001gmo.3	+	2	505	c.118delA	c.(118-120)aaafs	p.K40fs	AXDND1_uc001gmn.2_Intron|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_5'UTR	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	40										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GCTAAAGGAGAAAAAAAATAT	0.378													---	300	---	---	7	---					
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:98427639delT	uc002syh.4	-	17	2149	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	640						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393													---	1153	---	---	8	---					
GCC2	9648	broad.mit.edu	37	2	109087914	109087914	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:109087914delT	uc002tec.3	+	5	2283	c.2129delT	c.(2128-2130)gttfs	p.V710fs	GCC2_uc002ted.3_Frame_Shift_Del_p.V609fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	710					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GATTTGGAGGTTTTTTTGTCT	0.299													---	1064	---	---	8	---					
RANBP2	5903	broad.mit.edu	37	2	109382805	109382805	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:109382805delT	uc002tem.4	+	19	5936	c.5810delT	c.(5809-5811)attfs	p.I1937fs		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1937					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CGTGGTGTGATTTTTGGCCAA	0.413													---	1322	---	---	8	---					
RBM45	129831	broad.mit.edu	37	2	178988920	178988920	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:178988920delA	uc002ulv.3	+	7	1227	c.1135delA	c.(1135-1137)aaafs	p.K379fs		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	381					cell differentiation|nervous system development	cytoplasm|nucleus	RNA binding|nucleotide binding	p.A382fs*7(2)|p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCCATCATGCAAAAAAAAAGC	0.353													---	379	---	---	10	---					
SGOL1	151648	broad.mit.edu	37	3	20216049	20216050	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:20216049_20216050insT	uc003cbu.3	-	5	1128_1129	c.973_974insA	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_Ins_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_Ins_p.M325fs|SGOL1_uc003cby.3_Intron|SGOL1_uc003cbx.3_Intron|SGOL1_uc003cbz.3_Frame_Shift_Ins_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						AGATTTGTGCATTTTTTTTTGG	0.317													---	215	---	---	7	---					
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:33602361delT	uc021wvc.1	-	27	3104	c.2893delA	c.(2893-2895)atgfs	p.M965fs	CLASP2_uc003cfs.3_Frame_Shift_Del_p.M164fs|CLASP2_uc021wva.1_Frame_Shift_Del_p.M39fs|CLASP2_uc021wvb.1_Frame_Shift_Del_p.M744fs|CLASP2_uc011axt.1_Frame_Shift_Del_p.M557fs	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	966										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343													---	663	---	---	8	---					
TBC1D23	55773	broad.mit.edu	37	3	100039735	100039736	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:100039735_100039736insA	uc003dtt.3	+	17	2115_2116	c.1938_1939insA	c.(1936-1941)tccaaafs	p.S646fs	TBC1D23_uc003dts.3_Frame_Shift_Ins_p.S631fs|TBC1D23_uc003dtu.3_Frame_Shift_Ins_p.S77fs	NM_001199198	NP_001186127	Q9NUY8	TBC23_HUMAN	Homo sapiens TBC1 domain family, member 23 (TBC1D23), transcript variant 1, mRNA.	646						intracellular	Rab GTPase activator activity	p.?(2)|p.H650fs*3(1)|p.H635fs*3(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AAATTACATCCAAAAAAAAACA	0.356													---	276	---	---	10	---					
WWTR1	25937	broad.mit.edu	37	3	149260194	149260196	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:149260194_149260196delCTG	uc003exf.3	-	3	1037_1039	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_uc003exe.3_In_Frame_Del_p.Q233del|WWTR1_uc021xfm.1_In_Frame_Del_p.Q233del|WWTR1_uc003exh.3_In_Frame_Del_p.Q233del	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	233	Gln-rich.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma								---	362	---	---	7	---					
DHX36	170506	broad.mit.edu	37	3	154032977	154032978	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	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													---	259	---	---	7	---					
TMEM175	84286	broad.mit.edu	37	4	946206	946207	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:946206_946207delTG	uc003gbq.3	+	6	528_529	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_uc010ibl.1_Frame_Shift_Del_p.C144fs|TMEM175_uc003gbp.1_Frame_Shift_Del_p.C62fs|TMEM175_uc003gbs.3_Frame_Shift_Del_p.C27fs|TMEM175_uc003gbt.3_Frame_Shift_Del_p.C27fs|TMEM175_uc003gbr.3_Frame_Shift_Del_p.C62fs	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	144						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515													---	1016	---	---	7	---					
CRIPAK	285464	broad.mit.edu	37	4	1388530	1388531	+	Frame_Shift_Ins	INS	-	CA	CA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:1388530_1388531insCA	uc003gdf.2	+	0	3191_3192	c.231_232insCA	c.(229-234)gctcatfs	p.A77fs		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	77					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCACCTGCTCATGTGCCCAT	0.644													---	1960	---	---	11	---					
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:41648508_41648509delGA	uc003gvz.4	+	16	2835_2836	c.2418_2419delGA	c.(2416-2421)cggagafs	p.R806fs	LIMCH1_uc003gwe.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvu.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvv.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvw.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvx.4_Frame_Shift_Del_p.R409fs|LIMCH1_uc003gvy.4_Frame_Shift_Del_p.R250fs|LIMCH1_uc003gwa.4_Frame_Shift_Del_p.R262fs|LIMCH1_uc011byu.2_Frame_Shift_Del_p.R255fs|LIMCH1_uc003gwc.4_Frame_Shift_Del_p.R267fs|LIMCH1_uc003gwd.4_Frame_Shift_Del_p.R255fs|LIMCH1_uc011byv.2_Frame_Shift_Del_p.R172fs	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	421	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465													---	547	---	---	8	---					
KIAA1211	57482	broad.mit.edu	37	4	57179503	57179503	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:57179503delA	uc003hbk.2	+	6	886	c.495delA	c.(493-495)ccafs	p.P165fs	KIAA1211_uc010iha.2_Frame_Shift_Del_p.P158fs|KIAA1211_uc011bzz.1_Frame_Shift_Del_p.P75fs|KIAA1211_uc003hbm.1_Frame_Shift_Del_p.P51fs	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	165										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTGTTAAGCCAAAAAAACAGA	0.572													---	543	---	---	7	---					
WDFY3	23001	broad.mit.edu	37	4	85611708	85611709	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:85611708_85611709delCA	uc003hpd.3	-	60	9721_9722	c.9313_9314delTG	c.(9313-9315)tggfs	p.W3105fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3105						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCCCATCTCCCACACACACACA	0.510													---	425	---	---	7	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:146077123_146077125delCAG	uc003ika.4	-	7	596_598	c.458_460delCTG	c.(457-462)gctgat>gat	p.A153del		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													---	381	---	---	7	---					
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:190873437_190873439delAAG	uc003izs.3	+	2	445_447	c.254_256delAAG	c.(253-258)aaagaa>aaa	p.E86del		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	86					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414													---	691	---	---	19	---					
PDZD2	23037	broad.mit.edu	37	5	32090059	32090061	+	In_Frame_Del	DEL	TCC	-	-	rs61744453	by1000genomes	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:32090059_32090061delTCC	uc003jhl.3	+	19	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_uc003jhm.3_In_Frame_Del_p.S2173del	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2173	Ser-rich.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAACTGGCGTCCTCCTCCTCCT	0.527													---	664	---	---	7	---					
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:44388715_44388717delAGC	uc003jog.1	-	0	68_70	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	23					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537													---	290	---	---	7	---					
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139905676	139905676	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:139905676delA	uc003lfs.2	+	25	4742	c.4588delA	c.(4588-4590)aaafs	p.K1530fs	ANKHD1-EIF4EBP3_uc003lfr.3_Frame_Shift_Del_p.K1530fs|ANKHD1-EIF4EBP3_uc003lfu.1_Frame_Shift_Del_p.K1010fs|ANKHD1-EIF4EBP3_uc011czh.1_Frame_Shift_Del_p.K269fs|ANKHD1-EIF4EBP3_uc003lfw.3_Frame_Shift_Del_p.K168fs|ANKHD1-EIF4EBP3_uc010jfl.3_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1530						cytoplasm|nucleus	RNA binding	p.G1529G(1)		breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTTTGGGAAAAAAAGGGC	0.423													---	885	---	---	7	---					
PCDHB4	56131	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:140502486_140502487insA	uc003lip.1	+	0	906_907	c.906_907insA	c.(904-909)ttgaaafs	p.L302fs		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	302	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.K305fs*12(1)|p.K303K(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAATT	0.366													---	777	---	---	10	---					
HLA-G	3135	broad.mit.edu	37	6	29857105	29857106	+	Splice_Site	INS	-	C	C	rs70987606		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:29857105_29857106insC	uc021ytv.1	+	4	629	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Splice_Site|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Splice_Site|HLA-G_uc010jro.3_3'UTR|HLA-J_uc021ytx.1_Splice_Site			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TTCCCGTCAGACCCCCCCCAAG	0.579													---	997	---	---	16	---					
DAXX	1616	broad.mit.edu	37	6	33287898	33287900	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:33287898_33287900delTCC	uc003oec.3	-	4	1557_1559	c.1353_1355delGGA	c.(1351-1356)gaggaa>gaa	p.451_452EE>E	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_In_Frame_Del_p.451_452EE>E|DAXX_uc021ywo.1_In_Frame_Del_p.451_452EE>E|DAXX_uc011dre.2_In_Frame_Del_p.463_464EE>E|DAXX_uc003oed.3_In_Frame_Del_p.451_452EE>E|DAXX_uc011drd.2_In_Frame_Del_p.376_377EE>E	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.E451E(4)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						ctcttcttcttcctcctcctcct	0.552			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								---	219	---	---	10	---					
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:52883129delT	uc003pbh.2	-	8	1153	c.663_splice	c.e8+1	p.K221_splice	ICK_uc003pbi.2_Splice_Site_p.K221_splice|ICK_uc003pbj.3_Splice_Site_p.K221_splice	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502													---	1109	---	---	9	---					
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	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													---	293	---	---	7	---					
GABRR1	2569	broad.mit.edu	37	6	89891719	89891721	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:89891719_89891721delAAG	uc003pna.2	-	7	1307_1309	c.852_854delCTT	c.(850-855)ttcttg>ttg	p.F284del	GABRR1_uc011dzv.1_In_Frame_Del_p.F261del	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	284					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGTTTGGAGCAAGAAGAAGAAGA	0.522													---	543	---	---	7	---					
MCHR2	84539	broad.mit.edu	37	6	100382358	100382358	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:100382358delA	uc003pqh.1	-	4	938	c.623delT	c.(622-624)ttcfs	p.F208fs	MCHR2_uc003pqi.1_Frame_Shift_Del_p.F208fs	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	208						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F208fs*5(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGGTAGAGGGAAAAAAAAAGT	0.343													---	463	---	---	8	---					
PPIL6	285755	broad.mit.edu	37	6	109757309	109757309	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:109757309delT	uc010kdp.3	-	1	810	c.229delA	c.(229-231)aggfs	p.R77fs	PPIL6_uc003ptg.4_Frame_Shift_Del_p.R77fs|PPIL6_uc021zdq.1_Non-coding_Transcript|Mir_584_uc021zdr.1_5'Flank	NM_001111298	NP_001104768	Q8IXY8	PPIL6_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.	77					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCCTTTACCCTTTTTTTCTCC	0.338													---	639	---	---	7	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	-	-	rs10951154	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:27135314_27135316delCGA	uc003sye.3	-	0	310_312	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOXA1_uc003syd.3_In_Frame_Del_p.R73del|HOXA1_uc022aao.1_In_Frame_Del_p.R73del|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154).			nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.650											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	335	---	---	8	---					
RP1L1	94137	broad.mit.edu	37	8	10467629	10467630	+	In_Frame_Ins	INS	-	TTC	TTC	rs146656804	by1000genomes	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:10467629_10467630insTTC	uc003wtc.3	-	3	4207_4208	c.3978_3979insGAA	c.(3976-3981)insGAA	p.1326_1327insE		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1326					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ccttcttctgttttagtttcct	0.455													---	347	---	---	7	---					
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:124368685delA	uc003yqh.4	-	12	1698	c.1590delT	c.(1588-1590)tttfs	p.F530fs	ATAD2_uc011lii.2_Frame_Shift_Del_p.F321fs|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Frame_Shift_Del_p.F530fs	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413													---	189	---	---	7	---					
KCNQ3	3786	broad.mit.edu	37	8	133150232	133150233	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:133150232_133150233insT	uc003ytj.3	-	11	1824_1825	c.1599_1600insA	c.(1597-1602)aaattcfs	p.K533fs	KCNQ3_uc003yti.3_Frame_Shift_Ins_p.K413fs|KCNQ3_uc010mdt.3_Frame_Shift_Ins_p.K533fs	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	533					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.F534I(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTCTCCTTGAATTTTTTTTTAT	0.455													---	684	---	---	12	---					
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr9:6012690delT	uc003zjr.3	-	0	2951	c.2918delA	c.(2917-2919)aatfs	p.N973fs	RANBP6_uc011lmf.2_Frame_Shift_Del_p.N621fs|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	973					protein transport	cytoplasm|nucleus	binding	p.N973fs*12(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358													---	419	---	---	7	---					
CDKN2A	1029	broad.mit.edu	37	9	21971010	21971026	+	Frame_Shift_Del	DEL	GTCCACGGGCAGACGGC	-	-	rs104894104		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr9:21971010_21971026delGTCCACGGGCAGACGGC	uc003zpk.3	-	1	638_654	c.332_348delGCCGTCTGCCCGTGGAC	c.(331-348)ggccgtctgcccgtggacfs	p.G111fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Frame_Shift_Del_p.G111fs|CDKN2A_uc003zpl.3_Frame_Shift_Del_p.G125fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	111					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.P114L(59)|p.W110*(45)|p.?(44)|p.R112G(8)|p.V115L(7)|p.P114H(6)|p.D116Y(5)|p.G111G(5)|p.P114S(4)|p.G111D(3)|p.D116V(2)|p.V115fs*11(2)|p.D116N(2)|p.R112S(2)|p.R112P(2)|p.L113L(2)|p.L113M(2)|p.L113P(2)|p.V115fs*3(2)|p.P114P(2)|p.H83fs*2(2)|p.R112fs*32(2)|p.V115E(2)|p.A169A(1)|p.R107fs*33(1)|p.W110C(1)|p.R112fs(1)|p.P167S(1)|p.A68fs*3(1)|p.W110fs*36(1)|p.W110fs*9(1)|p.D105fs*8(1)|p.0(1)|p.R170L(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)		CCTCAGCCAGGTCCACGGGCAGACGGCCCCAGGCATC	0.728	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	146	---	---	12	---					
LOC642236	642236	broad.mit.edu	37	9	68438558	68438559	+	Splice_Site	INS	-	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr9:68438558_68438559insT	uc022bht.1	-	4		c.541_splice	c.e4+1							Homo sapiens FSHD region gene 1 pseudogene (LOC642236), non-coding RNA.																		AGACACAAACCTTCTTTGTGTG	0.421													---	488	---	---	8	---					
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr9:94486026_94486028delTCC	uc004arj.2	-	8	2947_2949	c.2748_2750delGGA	c.(2746-2751)gaggaa>gaa	p.916_917EE>E	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	916					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACAGAGCCTTCCTCCTCCTCCT	0.645													---	566	---	---	7	---					
PLAU	5328	broad.mit.edu	37	10	75673298	75673298	+	Splice_Site	DEL	A	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:75673298delA	uc001jwa.3	+	7	607	c.461_splice	c.e7-1	p.G154_splice	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Splice_Site_p.G137_splice|PLAU_uc010qkx.2_Splice_Site_p.G68_splice|PLAU_uc001jwb.3_Splice_Site|PLAU_uc001jwc.3_Splice_Site_p.G154_splice|PLAU_uc009xrq.1_Splice_Site_p.G118_splice	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	154	Connecting peptide.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GTCCTCCAGGAAAAAAGCCCT	0.517													---	1581	---	---	7	---					
NUP98	4928	broad.mit.edu	37	11	3720389	3720389	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:3720389delT	uc001lyh.3	-	24	4353	c.3932delA	c.(3931-3933)aacfs	p.N1311fs	NUP98_uc001lyi.3_Frame_Shift_Del_p.N1311fs|NUP98_uc001lyg.3_Frame_Shift_Del_p.N276fs	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1328					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACAGGGCTGTTTTTTTGGGT	0.512			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								---	1163	---	---	10	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	-	-	rs3812754	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:12316384_12316389delCTCCTA	uc001mkg.1	+	2	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	470	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(4)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													---	37	---	---	14	---					
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	Splice_Site	DEL	GT	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:14276276_14276277delGT	uc001mle.3	+	9	1357	c.1089_splice	c.e9+1	p.E363_splice		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	364	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594													---	286	---	---	9	---					
RPLP0P2	113157	broad.mit.edu	37	11	61405017	61405019	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:61405017_61405019delCTG	uc001nrz.1	+	4	1621_1623	c.866_868delCTG	c.(865-870)cctgct>cct	p.A295del						Homo sapiens ribosomal protein, large, P0 pseudogene 2 (RPLP0P2), non-coding RNA.																		acagctgctcctgctgctgctgc	0.557													---	202	---	---	8	---					
MBD6	114785	broad.mit.edu	37	12	57919302	57919302	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:57919302delT	uc001soj.1	+	5	775	c.551delT	c.(550-552)cttfs	p.L184fs	MBD6_uc001sok.1_Frame_Shift_Del_p.L51fs|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	184	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTGGGGGGCTTTTCCCCCCA	0.637													---	794	---	---	7	---					
HSPH1	10808	broad.mit.edu	37	13	31715381	31715382	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr13:31715381_31715382insT	uc001utl.3	-	12	2008_2009	c.1737_1738insA	c.(1735-1740)aaagttfs	p.K579fs	HSPH1_uc001utj.3_Frame_Shift_Ins_p.K577fs|HSPH1_uc001utk.3_Frame_Shift_Ins_p.K533fs|HSPH1_uc010aaw.3_Frame_Shift_Ins_p.K536fs|HSPH1_uc010tds.2_Frame_Shift_Ins_p.K501fs	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	577					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGCTGGTCAACTTTTTTTTCAT	0.376													---	467	---	---	10	---					
GPR18	2841	broad.mit.edu	37	13	99907539	99907540	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr13:99907539_99907540insA	uc001voe.4	-	2	1246_1247	c.587_588insT	c.(586-588)ttcfs	p.F196fs	UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR18_uc010afv.3_Frame_Shift_Ins_p.F196fs|GPR18_uc021rlz.1_Frame_Shift_Ins_p.F196fs	NM_005292	NP_005283	Q14330	GPR18_HUMAN	Homo sapiens G protein-coupled receptor 18 (GPR18), transcript variant 1, mRNA.	196						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	AAGGAATCAAGAAAAAAAATGT	0.436													---	454	---	---	7	---					
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:73572607_73572608delAG	uc010ttu.2	+	11	1471_1472	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_uc001xno.3_Frame_Shift_Del_p.R399fs|RBM25_uc001xnp.3_Frame_Shift_Del_p.R194fs	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446													---	130	---	---	7	---					
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	-	-	rs139532153		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	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													---	179	---	---	10	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	G	G	rs2981599		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													---	1036	---	---	8	---					
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:29994531_29994533delGAG	uc010bzm.2	+	10	1194_1196	c.1159_1161delGAG	c.(1159-1161)gagdel	p.E399del	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_In_Frame_Del_p.E392del|TAOK2_uc021tgf.1_In_Frame_Del_p.E392del|TAOK2_uc002dva.2_In_Frame_Del_p.E392del|TAOK2_uc002dvc.2_In_Frame_Del_p.E392del|TAOK2_uc002dvd.2_In_Frame_Del_p.E219del	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	392	Glu-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						CAACgaggaagaggaggaggagg	0.611													---	364	---	---	7	---					
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:55362674_55362676delGAG	uc002ehy.3	+	4	1317_1319	c.784_786delGAG	c.(784-786)gagdel	p.E268del	IRX6_uc002ehx.3_In_Frame_Del_p.E268del	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626													---	377	---	---	15	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:69782978_69782980delTCC	uc002exs.3	-	5	583_585	c.567_569delGGA	c.(565-570)gaggaa>gaa	p.189_190EE>E		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													---	543	---	---	12	---					
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	-	-	rs4788682	by1000genomes	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:72991713_72991715delCCA	uc002fck.3	-	1	3003_3005	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(2)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635													---	367	---	---	11	---					
NPIPL2	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:74425400_74425402delCAA	uc010vmt.1	+	5	572_574	c.571_573delCAA	c.(571-573)caadel	p.Q192del				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	253										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						TCCTCCAACTCAACAACATTCTA	0.517													---	481	---	---	7	---					
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	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													---	1160	---	---	7	---					
TMEM97	27346	broad.mit.edu	37	17	26653806	26653807	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:26653806_26653807insA	uc002hat.3	+	2	663_664	c.518_519insA	c.(517-519)agafs	p.R173fs		NM_014573	NP_055388	Q5BJF2	TMM97_HUMAN	Homo sapiens transmembrane protein 97 (TMEM97), mRNA.	173					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAAGAGAAAAGAAAAAAAAAAT	0.441													---	310	---	---	11	---					
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	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													---	292	---	---	8	---					
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	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													---	236	---	---	17	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	Splice_Site	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	-	rs483929	by1000genomes	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	uc002hwe.4	-	2	287	c.246_splice	c.e2-1	p.S82_splice		NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	Homo sapiens keratin associated protein 4-1 (KRTAP4-1), mRNA.	101	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													---	346	---	---	43	---					
LOC100130581	100130581	broad.mit.edu	37	17	41466121	41466131	+	RNA	DEL	CGGCGCATGGA	-	-	rs66664722		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:41466121_41466131delCGGCGCATGGA	uc010wib.1	-	0		c.136_146delTCCATGCGCCG			LOC100130581_uc010czf.3_Non-coding_Transcript|LOC100130581_uc010wid.2_Non-coding_Transcript|LOC100130581_uc010wie.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC100130581 (LOC100130581), transcript variant 2, non-coding RNA.																		CAGAGGGAGGCGGCGCATGGACGGCGAGGGC	0.668													---	7	---	---	4	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:31769141_31769142insC	uc002nsy.4	-	1	1622_1623	c.1557_1558insG	c.(1555-1560)gggcttfs	p.G519fs		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	519					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.500													---	1012	---	---	9	---					
PRX	57716	broad.mit.edu	37	19	40901643	40901644	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:40901643_40901644insG	uc002onr.3	-	6	2884_2885	c.2615_2616insC	c.(2614-2616)ccafs	p.P872fs	PRX_uc002onq.3_Frame_Shift_Ins_p.P733fs|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	872					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTTTAGCGGCTGGGACCTGCCC	0.629													---	434	---	---	7	---					
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	-	-	rs62639328	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:46299165_46299167delCCT	uc002pdm.3	-	5	2285_2287	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_uc002pdl.3_In_Frame_Del_p.E441del	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	705	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586													---	798	---	---	11	---					
ANKRD30BP2	149992	broad.mit.edu	37	21	14439225	14439226	+	RNA	INS	-	A	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr21:14439225_14439226insA	uc002yja.4	+	9		c.2743_2744insA								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TATATTAAATGAAAAATTAGGG	0.287													---	153	---	---	10	---					
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	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													---	550	---	---	10	---					
DMD	1756	broad.mit.edu	37	X	32361293	32361293	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:32361293delT	uc004dda.1	-	39	5941	c.5697delA	c.(5695-5697)aaafs	p.K1899fs	DMD_uc004dcw.2_Frame_Shift_Del_p.K555fs|DMD_uc004dcx.2_Frame_Shift_Del_p.K558fs|DMD_uc004dcz.2_Frame_Shift_Del_p.K1776fs|DMD_uc004dcy.1_Frame_Shift_Del_p.K1895fs|DMD_uc004ddb.1_Frame_Shift_Del_p.K1891fs|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1899	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGCTGGCTAATTTTTTTTCAA	0.358													---	709	---	---	9	---					
PRRG1	5638	broad.mit.edu	37	X	37312611	37312611	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	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													---	910	---	---	8	---					
ATRX	546	broad.mit.edu	37	X	76812945	76812947	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:76812945_76812947delTCT	uc004ecp.4	-	29	6906_6908	c.6674_6676delAGA	c.(6673-6678)aagagg>agg	p.K2225del	ATRX_uc004ecq.4_In_Frame_Del_p.K2187del|ATRX_uc004eco.4_In_Frame_Del_p.K2010del	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2225	Poly-Lys.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GGAGTATCCCTCTTCTTCTTCTT	0.365			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	909	---	---	8	---					
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:110406206_110406208delGAA	uc010npv.1	+	6	667_669	c.640_642delGAA	c.(640-642)gaadel	p.E218del	PAK3_uc010npt.1_In_Frame_Del_p.E182del|PAK3_uc010npu.1_In_Frame_Del_p.E182del|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_In_Frame_Del_p.E182del|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_In_Frame_Del_p.E203del|PAK3_uc004epa.2_In_Frame_Del_p.E197del	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	197	Linker.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)			---	635	---	---	15	---					
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:149639325_149639327delCAG	uc011mxu.2	+	2	1715_1717	c.1405_1407delCAG	c.(1405-1407)cagdel	p.Q477del	MAMLD1_uc011mxt.1_In_Frame_Del_p.Q464del|MAMLD1_uc004fee.2_In_Frame_Del_p.Q502del|MAMLD1_uc011mxv.2_In_Frame_Del_p.Q477del|MAMLD1_uc011mxw.2_In_Frame_Del_p.Q429del	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	502					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532													---	455	---	---	14	---					
