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
GABRB3	2562	broad.mit.edu	37	15	26825521	26825521	+	Silent	SNP	C	T	T	rs146431931		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:26825521C>T	uc001zbb.3	-	6	898	c.795G>A	c.(793-795)ccG>ccA	p.P265P	GABRB3_uc021sgg.1_Silent_p.P138P|GABRB3_uc021sgh.1_Silent_p.P124P|GABRB3_uc001zaz.3_Silent_p.P209P|GABRB3_uc001zba.3_Silent_p.P209P	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	209					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			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGGAGAACTGCGGGAGCTCAA	0.562000														225			9		0	0	0.069234	0	0
ENOX1	55068	broad.mit.edu	37	13	43934128	43934128	+	Missense_Mutation	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr13:43934128G>A	uc001uza.4	-	6	748	c.448C>T	c.(448-450)Cca>Tca	p.P150S	ENOX1_uc001uzc.4_Missense_Mutation_p.P150S|ENOX1_uc001uzb.4_Missense_Mutation_p.P150S|ENOX1_uc010tfm.1_5'UTR	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	150	RRM.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCATTTTCTGGTAATCCTCCG	0.388000														149			64		0	0	0.139131	0	0
EPB41L3	23136	broad.mit.edu	37	18	5398076	5398076	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr18:5398076G>A	uc002kmt.1	-	16	2502	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*	EPB41L3_uc010wzh.1_Nonsense_Mutation_p.R637*|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Nonsense_Mutation_p.R111*|EPB41L3_uc010wzf.1_Nonsense_Mutation_p.R103*|EPB41L3_uc010wzg.1_Nonsense_Mutation_p.R78*|EPB41L3_uc010dkr.2_Nonsense_Mutation_p.R198*	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	806	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTTGGTTTTCGCGCAGACTCT	0.453000														579			250		0	0	0.139131	0	0
CYP11A1	1583	broad.mit.edu	37	15	74636261	74636261	+	Missense_Mutation	SNP	A	G	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:74636261A>G	uc002axt.2	-	3	853	c.698T>C	c.(697-699)tTc>tCc	p.F233S	CYP11A1_uc002axs.2_Missense_Mutation_p.F75S|CYP11A1_uc010bjm.1_Missense_Mutation_p.F75S|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_Missense_Mutation_p.F13S	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	233					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GGCATCAATGAATCGCTGGGC	0.572000														180			111		0	0	0.139131	0	0
SPECC1L	23384	broad.mit.edu	37	22	24717438	24717438	+	Missense_Mutation	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr22:24717438G>A	uc002zzw.3	+	4	793	c.490G>A	c.(490-492)Gtt>Att	p.V164I	SPECC1L_uc002zzv.4_Missense_Mutation_p.V164I|SPECC1L_uc011ajq.2_Missense_Mutation_p.V164I|SPECC1L_uc021wne.1_Non-coding_Transcript	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA.	164					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGAATGTGACGTTCGTATGAG	0.478000														210			85		0	0	0.139131	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17363216	17363216	+	Silent	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:17363216C>T	uc001ipd.3	-	7	858	c.858G>A	c.(856-858)acG>acA	p.T286T	ST8SIA6_uc010qce.2_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (ST8SIA6), mRNA.	286					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ACTCTTCGAGCGTGTAGTATA	0.433000														693			105		0	0	0.139131	0	0
SMAD4	4089	broad.mit.edu	37	18	48603028	48603028	+	Nonsense_Mutation	SNP	T	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr18:48603028T>A	uc010xdp.2	+	10	1867	c.1329T>A	c.(1327-1329)tgT>tgA	p.C443*	SMAD4_uc002lfb.4_Nonsense_Mutation_p.C288*	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	443	MH2.				BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGCGTCAGTGTCATCGACAGA	0.453000														80			43		0	0	0.124865	0	0
FLRT2	23768	broad.mit.edu	37	14	86087923	86087923	+	Missense_Mutation	SNP	T	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:86087923T>A	uc021rxf.1	+	0	65	c.65T>A	c.(64-66)aTt>aAt	p.I22N	FLRT2_uc001xvr.3_Missense_Mutation_p.I22N|FLRT2_uc010atd.3_Missense_Mutation_p.I22N	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	22					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGGCTTATCATTTCCCTGGGG	0.507000														245			88		0	0	0.139131	0	0
ATP5G3	518	broad.mit.edu	37	2	176044902	176044902	+	Missense_Mutation	SNP	C	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:176044902C>A	uc002ujz.4	-	1	314	c.44G>T	c.(43-45)cGa>cTa	p.R15L	ATP5G3_uc002uka.4_Missense_Mutation_p.R15L|ATP5G3_uc002ukb.2_Missense_Mutation_p.R15L	NM_001002258	NP_001680	P48201	AT5G3_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) (ATP5G3), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	15					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			GGATCCAGCTCGGATCTATTA	0.343000														227			63		1.45723e-30	1.62867e-30	0.139131	1	0
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr4:4228226G>A	uc003ghp.1	-	0	396	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	122					biomineral tissue development	extracellular space|integral to membrane		p.R122R(4)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716000														45			5		0	0	0.014758	0	0
FRMD1	79981	broad.mit.edu	37	6	168461474	168461474	+	Missense_Mutation	SNP	G	A	A	rs138998311	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr6:168461474G>A	uc003qwo.4	-	8	1374	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	FRMD1_uc003qwm.4_Missense_Mutation_p.R231C|FRMD1_uc011egs.2_Missense_Mutation_p.R208C|FRMD1_uc011egt.2_Missense_Mutation_p.R372C|FRMD1_uc003qwn.4_Missense_Mutation_p.R369C	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	437						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGTGGCTGCGGCTGGTCCTG	0.657000														89			8		0	0	0.038147	0	0
NEK9	91754	broad.mit.edu	37	14	75590766	75590766	+	Missense_Mutation	SNP	T	G	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:75590766T>G	uc001xrl.3	-	1	534	c.380A>C	c.(379-381)gAg>gCg	p.E127A		NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	127	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ATATTCCAGCTCAATCAGCAG	0.408000														196			65		0	0	0.139131	0	0
IL28A	282616	broad.mit.edu	37	19	39760163	39760163	+	Silent	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:39760163G>A	uc002oku.1	+	3	358	c.306G>A	c.(304-306)ctG>ctA	p.L102L		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	Homo sapiens interleukin 28A (interferon, lambda 2) (IL28A), mRNA.	102					response to virus	extracellular space	cytokine activity			cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGGCTGAGCTGGCCCTGACGC	0.632000														177			143		0	0	0.139131	0	0
UBR4	23352	broad.mit.edu	37	1	19477078	19477078	+	Silent	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:19477078G>A	uc001bbi.3	-	48	7427	c.7423C>T	c.(7423-7425)Ctg>Ttg	p.L2475L	UBR4_uc001bbk.1_Silent_p.L129L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2475					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TACCTCTCCAGGACAGTTCCA	0.522000														664			137		0	0	0.139131	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946437	16946437	+	RNA	SNP	C	T	T	rs2262202		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:16946437C>T	uc010ocf.2	-	2		c.461G>A			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		AGCCTTCCGCCGGGCCAGCAG	0.672000														145			15		0	0	0.132662	0	0
NLRP12	91662	broad.mit.edu	37	19	54327405	54327405	+	Silent	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:54327405G>A	uc002qcj.4	-	0	244	c.24C>T	c.(22-24)gaC>gaT	p.D8D	NLRP12_uc002qch.4_Silent_p.D8D|NLRP12_uc002qci.4_Silent_p.D8D|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.D8D	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	8	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.D8E(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GACAGAGGCCGTCCCTGCCTG	0.612000														247			60		0	0	0.139131	0	0
PSME4	23198	broad.mit.edu	37	2	54133986	54133986	+	Missense_Mutation	SNP	T	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:54133986T>C	uc002rxp.2	-	24	2860	c.2804A>G	c.(2803-2805)cAt>cGt	p.H935R	PSME4_uc010yop.1_Missense_Mutation_p.H821R|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Missense_Mutation_p.H310R|PSME4_uc010fbv.1_Missense_Mutation_p.H79R|PSME4_uc021vho.1_Missense_Mutation_p.H920R	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	935					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGCTCTGATATGTTGTTTTTT	0.323000														94			29		0	0	0.134883	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878506	39878506	+	Missense_Mutation	SNP	G	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:39878506G>T	uc009vvt.1	+	0	3331	c.2569G>T	c.(2569-2571)Ggt>Tgt	p.G857C	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	721	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCAGAGGAGGGTACCTCAAT	0.542000														32			11		0.00010058	0.000101921	0.093190	1	0
PCDH15	65217	broad.mit.edu	37	10	55826528	55826528	+	Missense_Mutation	SNP	C	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:55826528C>A	uc010qhy.1	-	18	2619	c.2224G>T	c.(2224-2226)Ggt>Tgt	p.G742C	PCDH15_uc010qhq.2_Missense_Mutation_p.G742C|PCDH15_uc010qhr.2_Missense_Mutation_p.G737C|PCDH15_uc021pqv.1_Missense_Mutation_p.G737C|PCDH15_uc021pqw.1_Missense_Mutation_p.G749C|PCDH15_uc010qht.2_Missense_Mutation_p.G744C|PCDH15_uc021pqx.1_Missense_Mutation_p.G737C|PCDH15_uc001jjv.1_Missense_Mutation_p.G715C|PCDH15_uc021pqy.1_Missense_Mutation_p.G737C|PCDH15_uc021pqz.1_Missense_Mutation_p.G715C|PCDH15_uc010qhv.1_Missense_Mutation_p.G737C|PCDH15_uc010qhw.1_Missense_Mutation_p.G700C|PCDH15_uc010qhx.1_Missense_Mutation_p.G666C|PCDH15_uc010qhz.1_Missense_Mutation_p.G737C|PCDH15_uc010qia.1_Missense_Mutation_p.G715C|PCDH15_uc001jju.1_Missense_Mutation_p.G737C|PCDH15_uc010qib.1_Missense_Mutation_p.G715C|PCDH15_uc001jjw.3_Missense_Mutation_p.G737C	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	737	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G742S(2)|p.G737S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTACTTGACCCACAAAGGCA	0.328000										HNSCC(58;0.16)				148			59		2.67592e-24	2.94739e-24	0.139131	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33577113	33577113	+	Missense_Mutation	SNP	G	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:33577113G>C	uc003jia.1	-	18	3181	c.3018C>G	c.(3016-3018)aaC>aaG	p.N1006K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.N921K	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1006	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGTGCCTTTGTTTGGTTTCA	0.527000										HNSCC(64;0.19)				570			72		0	0	0.139131	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604697	140604697	+	Silent	SNP	G	A	A	rs147849897	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:140604697G>A	uc003ljb.3	+	0	1620	c.1620G>A	c.(1618-1620)gcG>gcA	p.A540A		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	540	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A540A(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCCCCGGCGTTGAGCAGCG	0.682000														298			138		0	0	0.139131	0	0
RP11-165H20.1	149620	broad.mit.edu	37	1	111824378	111824378	+	RNA	SNP	A	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:111824378A>C	uc009wgb.3	+	1		c.236A>C								Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA.																		AAAACAAGTAAATGACGGAAA	0.418000														87			38		0	0	0.069456	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118289	118289	+	RNA	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chrGL000205.1:118289G>A	uc002kgk.4	+	0		c.1667G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TGAGCTCAGTGGTGCTACCTA	0.512000														68			32		0	0	0.144211	0	0
MAST4	375449	broad.mit.edu	37	5	66462697	66462697	+	Missense_Mutation	SNP	G	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:66462697G>T	uc021xzk.1	+	28	7998	c.7690G>T	c.(7690-7692)Gac>Tac	p.D2564Y	MAST4_uc003jut.2_Missense_Mutation_p.D2375Y|MAST4_uc003juw.3_Missense_Mutation_p.D2303Y|MAST4_uc003jux.3_Missense_Mutation_p.D128Y	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2567						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAAAGGGAAGGACCCTGCCCC	0.647000														36			15		6.72482e-11	7.00119e-11	0.132662	1	0
FAM180A	389558	broad.mit.edu	37	7	135418752	135418752	+	Missense_Mutation	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:135418752G>A	uc003vtd.3	-	2	759	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	FAM180A_uc010lmt.3_Non-coding_Transcript|FAM180A_uc010lmu.2_Missense_Mutation_p.R165C	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN	Homo sapiens family with sequence similarity 180, member A (FAM180A), mRNA.	165						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TGTGAGGAGCGCATCAAGTCG	0.597000														113			36		0	0	0.064281	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	A	A	rs121912651		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:7577539G>A	uc002gim.2	-	6	936	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(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)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)				88			37		0	0	0.117977	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400795	195400795	+	Missense_Mutation	SNP	C	T	T	rs7615357	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:195400795C>T	uc003fuw.3	+	8	1285	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	SDHAP2_uc011btb.1_Missense_Mutation_p.S178L|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GGGGCAAACTCGCTGTTGGAC	0.592000														203			13		0	0	0.043863	0	0
abParts	0	broad.mit.edu	37	14	107062535	107062535	+	RNA	SNP	C	G	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:107062535C>G	uc021ser.1	-	149		c.6534G>C								Parts of antibodies, mostly variable regions.																		CTGCCACCAGCAGGAGGAAGA	0.512000														140			6		0	0	0.021553	0	0
ZNF676	163223	broad.mit.edu	37	19	22362994	22362994	+	Nonsense_Mutation	SNP	C	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:22362994C>A	uc002nqs.1	-	2	1843	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.388000														153			36		6.70999e-13	7.18252e-13	0.069456	1	0
DDX11L11	0	broad.mit.edu	37	12	92018	92018	+	Missense_Mutation	SNP	T	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:92018T>C	uc010sdi.1	-	1	320	c.292A>G	c.(292-294)Agt>Ggt	p.S98G	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		GACTCCACACTCTCCTGGGTT	0.592000														24			6		0	0	0.029380	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	Silent	SNP	C	T	T	rs58649169	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:142479940C>T	uc011ksq.2	+	1	155	c.72C>T	c.(70-72)atC>atT	p.I24I	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		ATGACAAGATCGTTGGGGGCT	0.557000														173			12		0	0	0.132662	0	0
PTPRH	5794	broad.mit.edu	37	19	55711614	55711614	+	Silent	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:55711614G>A	uc002qjq.3	-	6	1483	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	PTPRH_uc010esv.3_Silent_p.S292S|PTPRH_uc002qjs.2_Silent_p.S477S	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	470	Fibronectin type-III 5.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S470S(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGTGGAGATGCTGACATTCT	0.542000														174			41		0	0	0.092188	0	0
MAST4	375449	broad.mit.edu	37	5	66462696	66462696	+	Missense_Mutation	SNP	G	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:66462696G>T	uc021xzk.1	+	28	7997	c.7689G>T	c.(7687-7689)aaG>aaT	p.K2563N	MAST4_uc003jut.2_Missense_Mutation_p.K2374N|MAST4_uc003juw.3_Missense_Mutation_p.K2302N|MAST4_uc003jux.3_Missense_Mutation_p.K127N	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2566						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCAAAGGGAAGGACCCTGCCC	0.652000														34			15		6.72482e-11	7.00119e-11	0.132662	1	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000														27			11		0	0	0.119110	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117666	117666	+	RNA	SNP	G	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chrGL000205.1:117666G>C	uc002kgk.4	+	0		c.1044G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CGCGAGTTCAGAGCGTGGAGC	0.612000														73			12		0	0	0.049695	0	0
AK309255	0	broad.mit.edu	37	15	28878843	28878843	+	RNA	SNP	G	A	A	rs150129920	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:28878843G>A	uc010aza.1	+	1		c.281G>A			AK309255_uc010azb.1_Non-coding_Transcript					Homo sapiens cDNA, FLJ97818.																		CTTCCTATTTGGCAATGAGCA	0.438000														68			4		0	0	0.014758	0	0
WNT7B	7477	broad.mit.edu	37	22	46327243	46327243	+	Missense_Mutation	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr22:46327243C>T	uc010haa.2	-	2	444	c.317G>A	c.(316-318)cGt>cAt	p.R106H	WNT7B_uc003bgo.2_Missense_Mutation_p.R102H	NM_058238	NP_478679	P56706	WNT7B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7B (WNT7B), mRNA.	102					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGCCTCACGGCTCCCTGC	0.701000														78			33		0	0	0.050027	0	0
CDH8	1006	broad.mit.edu	37	16	61851519	61851519	+	Missense_Mutation	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:61851519C>T	uc002eog.2	-	6	2096	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	CDH8_uc002eoh.3_Missense_Mutation_p.V150M	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	381	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTTCAACCACGATTTTGACT	0.483000														151			50		0	0	0.139131	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185364845	185364845	+	Missense_Mutation	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:185364845C>T	uc003fpo.3	-	14	1754	c.1675G>A	c.(1675-1677)Gtc>Atc	p.V559I	IGF2BP2_uc010hyi.3_Missense_Mutation_p.V502I|IGF2BP2_uc010hyj.3_Missense_Mutation_p.V496I|IGF2BP2_uc010hyk.3_Missense_Mutation_p.V423I|IGF2BP2_uc010hyl.3_Missense_Mutation_p.V453I|IGF2BP2_uc003fpp.3_Missense_Mutation_p.V516I|IGF2BP2_uc003fpq.3_Missense_Mutation_p.V564I	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA.	559	KH 4.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.I558I(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATAATTCTGACGATCACTTCC	0.507000														258			70		0	0	0.139131	0	0
AK302879	0	broad.mit.edu	37	15	76067987	76067987	+	Missense_Mutation	SNP	A	G	G	rs34243492	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:76067987A>G	uc010umm.1	+	0	94	c.17A>G	c.(16-18)cAa>cGa	p.Q6R	DNM1P35_uc021sqp.1_Intron					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		GAAGAAACTCAACAGAGTAAA	0.537000														113			6		0	0	0.029380	0	0
CPO	130749	broad.mit.edu	37	2	207827279	207827279	+	Missense_Mutation	SNP	C	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:207827279C>A	uc002vby.2	+	6	764	c.718C>A	c.(718-720)Cag>Aag	p.Q240K		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	Homo sapiens carboxypeptidase O (CPO), mRNA.	240					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CTCTTATGGGCAGTTAATTCT	0.458000														394			96		7.62712e-44	8.65166e-44	0.139131	1	0
FAT2	2196	broad.mit.edu	37	5	150945261	150945261	+	Missense_Mutation	SNP	C	T	T	rs142737825	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:150945261C>T	uc003lue.4	-	0	3245	c.3232G>A	c.(3232-3234)Gca>Aca	p.A1078T	FAT2_uc010jhx.1_Missense_Mutation_p.A1078T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1078	Cadherin 9.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAAGGCTGCGAGTCCAGTG	0.597000														96			36		0	0	0.069456	0	0
OR2A5	393046	broad.mit.edu	37	7	143747854	143747854	+	Silent	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:143747854C>T	uc011ktw.2	+	0	360	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGATGTCCTACGATCGGTACA	0.468000														387			172		0	0	0.139131	0	0
COX4I2	84701	broad.mit.edu	37	20	30232606	30232606	+	Missense_Mutation	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:30232606C>T	uc002wwj.1	+	4	490	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	Homo sapiens cytochrome c oxidase subunit IV isoform 2 (lung) (COX4I2), nuclear gene encoding mitochondrial protein, mRNA.	139					cellular respiration		cytochrome-c oxidase activity	p.R139R(2)		breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GACGGACGAGCGGAAAGCCCA	0.582000														198			40		0	0	0.111260	0	0
LOC645752	645752	broad.mit.edu	37	15	78211471	78211471	+	Missense_Mutation	SNP	C	T	T	rs67630434	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:78211471C>T	uc010bky.2	-	10	1060	c.296G>A	c.(295-297)aGa>aAa	p.R99K						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		CTCCTGGAGTCTCTCCTCCTG	0.567000														392			15		0	0	0.132662	0	0
ZNF629	23361	broad.mit.edu	37	16	30793072	30793072	+	Silent	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:30793072G>A	uc002dzs.1	-	2	2785	c.2577C>T	c.(2575-2577)ctC>ctT	p.L859L		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	859					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGCTCCTATGGAGCAGGAGGG	0.572000														143			73		0	0	0.139131	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117585	117585	+	RNA	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chrGL000205.1:117585C>T	uc002kgk.4	+	0		c.963C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGACAGCCGACTCCACCACCG	0.617000														71			5		0	0	0.014758	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	C	C	rs143761036	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:29625875T>C	uc010ztl.1	+	1	61	c.29T>C	c.(28-30)aTc>aCc	p.I10T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I40T(4)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000														229			10		0	0	0.080935	0	0
SHANK1	50944	broad.mit.edu	37	19	51189519	51189519	+	Missense_Mutation	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:51189519C>T	uc002psx.1	-	19	2571	c.2552G>A	c.(2551-2553)cGa>cAa	p.R851Q	SHANK1_uc002psw.1_Missense_Mutation_p.R235Q	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	851					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCTTTGGGTCGGTGTTTGCC	0.612000														151			125		0	0	0.139131	0	0
CXXC11	285093	broad.mit.edu	37	2	242815481	242815481	+	Splice_Site	SNP	A	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:242815481A>C	uc010fzu.1	+	2	1798	c.1775_splice	c.e2+1			NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.							integral to membrane											CCTCTGAGACACCCCCCAACC	0.697000														238			48		0	0	0.139131	0	0
OR2M3	127062	broad.mit.edu	37	1	248366501	248366501	+	Silent	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:248366501C>T	uc010pzg.2	+	0	132	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAAACTCTGTCATGGTTCTCC	0.547000														715			140		0	0	0.139131	0	0
BC101079	0	broad.mit.edu	37	15	102292832	102292832	+	Silent	SNP	G	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:102292832G>C	uc010usj.2	+	3	479	c.420G>C	c.(418-420)tcG>tcC	p.S140S	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		GAAGACACTCGTGGAGGCGTC	0.597000														32			3		0	0	0.009096	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163401	163401	+	RNA	SNP	G	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr8:163401G>C	uc010lra.3	-	3		c.732C>G			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		TCTGGTGCTTGTTGGCTTTAA	0.463000														28			4		0	0	0.009096	0	0
CPB1	1360	broad.mit.edu	37	3	148563350	148563350	+	Nonsense_Mutation	SNP	C	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:148563350C>A	uc003ewl.3	+	8	941	c.918C>A	c.(916-918)taC>taA	p.Y306*		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	306					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCCACTCGTACTCCCAAATGA	0.443000														202			109		5.93467e-45	6.83387e-45	0.139131	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125876347	125876347	+	Missense_Mutation	SNP	G	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:125876347G>C	uc003eim.1	-	3	557	c.367C>G	c.(367-369)Ctc>Gtc	p.L123V	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.3_5'Flank|ALDH1L1_uc010hsf.1_Missense_Mutation_p.L149V|ALDH1L1_uc003eip.1_Missense_Mutation_p.L32V|ALDH1L1_uc011bkj.1_5'UTR	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	123	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCGTGAATGAGGGTCCTAGGA	0.597000														268			78		0	0	0.139131	0	0
PDAP1	11333	broad.mit.edu	37	7	98995523	98995523	+	Missense_Mutation	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:98995523C>T	uc003uqe.3	-	4	583	c.449G>A	c.(448-450)cGg>cAg	p.R150Q		NM_014891	NP_055706	Q13442	HAP28_HUMAN	Homo sapiens PDGFA associated protein 1 (PDAP1), mRNA.	150					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	AGCCTCCTCCCGCTGTTTCCG	0.602000														238			101		0	0	0.139131	0	0
SNHG7	84973	broad.mit.edu	37	9	139620623	139620623	+	RNA	SNP	T	G	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr9:139620623T>G	uc011mec.2	-	0		c.67A>C			SNHG7_uc004cim.2_Intron|SNHG7_uc004cin.3_Intron|SNHG7_uc004ciq.4_Intron|SNHG7_uc004cio.3_Intron|SNHG7_uc011meb.2_Non-coding_Transcript					Homo sapiens small nucleolar RNA, H/ACA box 43 (SNORA43), small nucleolar RNA.																		AAATCGCCACTTTCTCTTTGC	0.567000														78			47		0	0	0.124865	0	0
ABLIM1	3983	broad.mit.edu	37	10	116444085	116444085	+	Missense_Mutation	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:116444085G>A	uc021pyy.1	-	0	330	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F	ABLIM1_uc021pyz.1_Missense_Mutation_p.L4F|ABLIM1_uc021pza.1_Missense_Mutation_p.L10F|ABLIM1_uc021pzf.1_Missense_Mutation_p.L4F|ABLIM1_uc001lbz.1_Intron	NM_001003408	NP_001003408	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 3, mRNA.	0					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGGTCCGTGAGCTCAGTCATT	0.463000														155			58		0	0	0.139131	0	0
MUC2	4583	broad.mit.edu	37	11	1077612	1077612	+	Missense_Mutation	SNP	A	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:1077612A>T	uc001lsx.1	+	2	389	c.362A>T	c.(361-363)cAc>cTc	p.H121L		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	121	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCACCCCGCACTACAGCCCC	0.682000														59			22		0	0	0.069288	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	T	T	rs121913529		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				36			36		0	0	0.074837	0	0
GABRB3	2562	broad.mit.edu	37	15	26825521	26825521	+	Silent	SNP	C	T	T	rs146431931		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr15:26825521C>T	uc001zbb.3	-	6	898	c.795G>A	c.(793-795)ccG>ccA	p.P265P	GABRB3_uc021sgg.1_Silent_p.P138P|GABRB3_uc021sgh.1_Silent_p.P124P|GABRB3_uc001zaz.3_Silent_p.P209P|GABRB3_uc001zba.3_Silent_p.P209P	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	209					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			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGGAGAACTGCGGGAGCTCAA	0.562000														225			9		0	0	0.361761	0	0
ENOX1	55068	broad.mit.edu	37	13	43934128	43934128	+	Missense_Mutation	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr13:43934128G>A	uc001uza.4	-	6	748	c.448C>T	c.(448-450)Cca>Tca	p.P150S	ENOX1_uc001uzc.4_Missense_Mutation_p.P150S|ENOX1_uc001uzb.4_Missense_Mutation_p.P150S|ENOX1_uc010tfm.1_5'UTR	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	150	RRM.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCATTTTCTGGTAATCCTCCG	0.388000														149			64		0	0	0.870114	0	0
EPB41L3	23136	broad.mit.edu	37	18	5398076	5398076	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr18:5398076G>A	uc002kmt.1	-	16	2502	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*	EPB41L3_uc010wzh.1_Nonsense_Mutation_p.R637*|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Nonsense_Mutation_p.R111*|EPB41L3_uc010wzf.1_Nonsense_Mutation_p.R103*|EPB41L3_uc010wzg.1_Nonsense_Mutation_p.R78*|EPB41L3_uc010dkr.2_Nonsense_Mutation_p.R198*	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	806	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTTGGTTTTCGCGCAGACTCT	0.453000														579			250		0	0	0.870114	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342248	60342248	+	RNA	SNP	G	C	C	rs76625372		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr17:60342248G>C	uc010woz.2	-	13		c.1881C>G								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						ATCTCTGAATGTCTCTCGAGC	0.483000														163			11		0	0	0.729181	0	0
ESPNP	284729	broad.mit.edu	37	1	17033900	17033900	+	Silent	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:17033900C>T	uc001azn.1	-	3	579	c.465G>A	c.(463-465)ctG>ctA	p.L155L	ESPNP_uc010ocj.1_Nonsense_Mutation_p.W127*					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CGTTCACTACCAGGATCTGGC	0.736000														98			7		0	0	0.248553	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17363216	17363216	+	Silent	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr10:17363216C>T	uc001ipd.3	-	7	858	c.858G>A	c.(856-858)acG>acA	p.T286T	ST8SIA6_uc010qce.2_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (ST8SIA6), mRNA.	286					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ACTCTTCGAGCGTGTAGTATA	0.433000														693			105		0	0	0.870114	0	0
SMAD4	4089	broad.mit.edu	37	18	48603028	48603028	+	Nonsense_Mutation	SNP	T	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr18:48603028T>A	uc010xdp.2	+	10	1867	c.1329T>A	c.(1327-1329)tgT>tgA	p.C443*	SMAD4_uc002lfb.4_Nonsense_Mutation_p.C288*	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	443	MH2.				BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGCGTCAGTGTCATCGACAGA	0.453000														80			43		0	0	0.859065	0	0
FLRT2	23768	broad.mit.edu	37	14	86087923	86087923	+	Missense_Mutation	SNP	T	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr14:86087923T>A	uc021rxf.1	+	0	65	c.65T>A	c.(64-66)aTt>aAt	p.I22N	FLRT2_uc001xvr.3_Missense_Mutation_p.I22N|FLRT2_uc010atd.3_Missense_Mutation_p.I22N	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	22					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGGCTTATCATTTCCCTGGGG	0.507000														245			88		0	0	0.870114	0	0
ATP5G3	518	broad.mit.edu	37	2	176044902	176044902	+	Missense_Mutation	SNP	C	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:176044902C>A	uc002ujz.4	-	1	314	c.44G>T	c.(43-45)cGa>cTa	p.R15L	ATP5G3_uc002uka.4_Missense_Mutation_p.R15L|ATP5G3_uc002ukb.2_Missense_Mutation_p.R15L	NM_001002258	NP_001680	P48201	AT5G3_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) (ATP5G3), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	15					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			GGATCCAGCTCGGATCTATTA	0.343000														227			63		1.45723e-30	1.67223e-30	0.870114	1	0
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr4:4228226G>A	uc003ghp.1	-	0	396	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	122					biomineral tissue development	extracellular space|integral to membrane		p.R122R(4)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716000														45			5		0	0	0.184627	0	0
FRMD1	79981	broad.mit.edu	37	6	168461474	168461474	+	Missense_Mutation	SNP	G	A	A	rs138998311	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr6:168461474G>A	uc003qwo.4	-	8	1374	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	FRMD1_uc003qwm.4_Missense_Mutation_p.R231C|FRMD1_uc011egs.2_Missense_Mutation_p.R208C|FRMD1_uc011egt.2_Missense_Mutation_p.R372C|FRMD1_uc003qwn.4_Missense_Mutation_p.R369C	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	437						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGTGGCTGCGGCTGGTCCTG	0.657000														89			8		0	0	0.278610	0	0
NEK9	91754	broad.mit.edu	37	14	75590766	75590766	+	Missense_Mutation	SNP	T	G	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr14:75590766T>G	uc001xrl.3	-	1	534	c.380A>C	c.(379-381)gAg>gCg	p.E127A		NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	127	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ATATTCCAGCTCAATCAGCAG	0.408000														196			65		0	0	0.870114	0	0
AK309255	0	broad.mit.edu	37	15	28878843	28878843	+	RNA	SNP	G	A	A	rs150129920	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr15:28878843G>A	uc010aza.1	+	1		c.281G>A			AK309255_uc010azb.1_Non-coding_Transcript					Homo sapiens cDNA, FLJ97818.																		CTTCCTATTTGGCAATGAGCA	0.438000														68			4		0	0	0.184627	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117384	117384	+	RNA	SNP	C	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chrGL000205.1:117384C>A	uc002kgk.4	+	0		c.762C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGGAGATCCACGAGAAAGTTC	0.567000														145			24		1.22574e-08	1.28062e-08	0.624587	1	0
UBR4	23352	broad.mit.edu	37	1	19477078	19477078	+	Silent	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:19477078G>A	uc001bbi.3	-	48	7427	c.7423C>T	c.(7423-7425)Ctg>Ttg	p.L2475L	UBR4_uc001bbk.1_Silent_p.L129L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2475					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TACCTCTCCAGGACAGTTCCA	0.522000														664			137		0	0	0.870114	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878506	39878506	+	Missense_Mutation	SNP	G	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:39878506G>T	uc009vvt.1	+	0	3331	c.2569G>T	c.(2569-2571)Ggt>Tgt	p.G857C	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	721	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCAGAGGAGGGTACCTCAAT	0.542000														32			11		0.00010058	0.000102038	0.411799	1	0
PTPRH	5794	broad.mit.edu	37	19	55711614	55711614	+	Silent	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:55711614G>A	uc002qjq.3	-	6	1483	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	PTPRH_uc010esv.3_Silent_p.S292S|PTPRH_uc002qjs.2_Silent_p.S477S	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	470	Fibronectin type-III 5.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S470S(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGTGGAGATGCTGACATTCT	0.542000														174			41		0	0	0.827153	0	0
PSME4	23198	broad.mit.edu	37	2	54133986	54133986	+	Missense_Mutation	SNP	T	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:54133986T>C	uc002rxp.2	-	24	2860	c.2804A>G	c.(2803-2805)cAt>cGt	p.H935R	PSME4_uc010yop.1_Missense_Mutation_p.H821R|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Missense_Mutation_p.H310R|PSME4_uc010fbv.1_Missense_Mutation_p.H79R|PSME4_uc021vho.1_Missense_Mutation_p.H920R	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	935					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGCTCTGATATGTTGTTTTTT	0.323000														94			29		0	0	0.729181	0	0
WNT7B	7477	broad.mit.edu	37	22	46327243	46327243	+	Missense_Mutation	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr22:46327243C>T	uc010haa.2	-	2	444	c.317G>A	c.(316-318)cGt>cAt	p.R106H	WNT7B_uc003bgo.2_Missense_Mutation_p.R102H	NM_058238	NP_478679	P56706	WNT7B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7B (WNT7B), mRNA.	102					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGCCTCACGGCTCCCTGC	0.701000														78			33		0	0	0.760397	0	0
PCDH15	65217	broad.mit.edu	37	10	55826528	55826528	+	Missense_Mutation	SNP	C	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr10:55826528C>A	uc010qhy.1	-	18	2619	c.2224G>T	c.(2224-2226)Ggt>Tgt	p.G742C	PCDH15_uc010qhq.2_Missense_Mutation_p.G742C|PCDH15_uc010qhr.2_Missense_Mutation_p.G737C|PCDH15_uc021pqv.1_Missense_Mutation_p.G737C|PCDH15_uc021pqw.1_Missense_Mutation_p.G749C|PCDH15_uc010qht.2_Missense_Mutation_p.G744C|PCDH15_uc021pqx.1_Missense_Mutation_p.G737C|PCDH15_uc001jjv.1_Missense_Mutation_p.G715C|PCDH15_uc021pqy.1_Missense_Mutation_p.G737C|PCDH15_uc021pqz.1_Missense_Mutation_p.G715C|PCDH15_uc010qhv.1_Missense_Mutation_p.G737C|PCDH15_uc010qhw.1_Missense_Mutation_p.G700C|PCDH15_uc010qhx.1_Missense_Mutation_p.G666C|PCDH15_uc010qhz.1_Missense_Mutation_p.G737C|PCDH15_uc010qia.1_Missense_Mutation_p.G715C|PCDH15_uc001jju.1_Missense_Mutation_p.G737C|PCDH15_uc010qib.1_Missense_Mutation_p.G715C|PCDH15_uc001jjw.3_Missense_Mutation_p.G737C	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	737	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G742S(2)|p.G737S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTACTTGACCCACAAAGGCA	0.328000										HNSCC(58;0.16)				148			59		2.67592e-24	3.0212e-24	0.870114	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33577113	33577113	+	Missense_Mutation	SNP	G	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:33577113G>C	uc003jia.1	-	18	3181	c.3018C>G	c.(3016-3018)aaC>aaG	p.N1006K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.N921K	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1006	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGTGCCTTTGTTTGGTTTCA	0.527000										HNSCC(64;0.19)				570			72		0	0	0.870114	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604697	140604697	+	Silent	SNP	G	A	A	rs147849897	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:140604697G>A	uc003ljb.3	+	0	1620	c.1620G>A	c.(1618-1620)gcG>gcA	p.A540A		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	540	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A540A(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCCCCGGCGTTGAGCAGCG	0.682000														298			138		0	0	0.870114	0	0
RP11-165H20.1	149620	broad.mit.edu	37	1	111824378	111824378	+	RNA	SNP	A	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:111824378A>C	uc009wgb.3	+	1		c.236A>C								Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA.																		AAAACAAGTAAATGACGGAAA	0.418000														87			38		0	0	0.796494	0	0
CYP11A1	1583	broad.mit.edu	37	15	74636261	74636261	+	Missense_Mutation	SNP	A	G	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr15:74636261A>G	uc002axt.2	-	3	853	c.698T>C	c.(697-699)tTc>tCc	p.F233S	CYP11A1_uc002axs.2_Missense_Mutation_p.F75S|CYP11A1_uc010bjm.1_Missense_Mutation_p.F75S|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_Missense_Mutation_p.F13S	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	233					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GGCATCAATGAATCGCTGGGC	0.572000														180			111		0	0	0.870114	0	0
SHANK1	50944	broad.mit.edu	37	19	51189519	51189519	+	Missense_Mutation	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:51189519C>T	uc002psx.1	-	19	2571	c.2552G>A	c.(2551-2553)cGa>cAa	p.R851Q	SHANK1_uc002psw.1_Missense_Mutation_p.R235Q	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	851					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCTTTGGGTCGGTGTTTGCC	0.612000														151			125		0	0	0.870114	0	0
MAST4	375449	broad.mit.edu	37	5	66462697	66462697	+	Missense_Mutation	SNP	G	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:66462697G>T	uc021xzk.1	+	28	7998	c.7690G>T	c.(7690-7692)Gac>Tac	p.D2564Y	MAST4_uc003jut.2_Missense_Mutation_p.D2375Y|MAST4_uc003juw.3_Missense_Mutation_p.D2303Y|MAST4_uc003jux.3_Missense_Mutation_p.D128Y	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2567						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAAAGGGAAGGACCCTGCCCC	0.647000														36			15		6.72482e-11	7.13239e-11	0.479597	1	0
NLRP12	91662	broad.mit.edu	37	19	54327405	54327405	+	Silent	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:54327405G>A	uc002qcj.4	-	0	244	c.24C>T	c.(22-24)gaC>gaT	p.D8D	NLRP12_uc002qch.4_Silent_p.D8D|NLRP12_uc002qci.4_Silent_p.D8D|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.D8D	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	8	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.D8E(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GACAGAGGCCGTCCCTGCCTG	0.612000														247			60		0	0	0.870114	0	0
FAM180A	389558	broad.mit.edu	37	7	135418752	135418752	+	Missense_Mutation	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:135418752G>A	uc003vtd.3	-	2	759	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	FAM180A_uc010lmt.3_Non-coding_Transcript|FAM180A_uc010lmu.2_Missense_Mutation_p.R165C	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN	Homo sapiens family with sequence similarity 180, member A (FAM180A), mRNA.	165						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TGTGAGGAGCGCATCAAGTCG	0.597000														113			36		0	0	0.788014	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	A	A	rs121912651		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr17:7577539G>A	uc002gim.2	-	6	936	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(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)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)				88			37		0	0	0.853193	0	0
IL28A	282616	broad.mit.edu	37	19	39760163	39760163	+	Silent	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:39760163G>A	uc002oku.1	+	3	358	c.306G>A	c.(304-306)ctG>ctA	p.L102L		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	Homo sapiens interleukin 28A (interferon, lambda 2) (IL28A), mRNA.	102					response to virus	extracellular space	cytokine activity			cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGGCTGAGCTGGCCCTGACGC	0.632000														177			143		0	0	0.870114	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000														153			27		0	0	0.667858	0	0
ZNF676	163223	broad.mit.edu	37	19	22362994	22362994	+	Nonsense_Mutation	SNP	C	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:22362994C>A	uc002nqs.1	-	2	1843	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.388000														153			36		6.70999e-13	7.33905e-13	0.796494	1	0
COX4I2	84701	broad.mit.edu	37	20	30232606	30232606	+	Missense_Mutation	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr20:30232606C>T	uc002wwj.1	+	4	490	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	Homo sapiens cytochrome c oxidase subunit IV isoform 2 (lung) (COX4I2), nuclear gene encoding mitochondrial protein, mRNA.	139					cellular respiration		cytochrome-c oxidase activity	p.R139R(2)		breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GACGGACGAGCGGAAAGCCCA	0.582000														198			40		0	0	0.847076	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342234	60342234	+	RNA	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr17:60342234C>T	uc010woz.2	-	13		c.1895G>A								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						GTCTGGTGTGCTCCATCTCTG	0.498000														126			12		0	0	0.592651	0	0
MAST4	375449	broad.mit.edu	37	5	66462696	66462696	+	Missense_Mutation	SNP	G	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:66462696G>T	uc021xzk.1	+	28	7997	c.7689G>T	c.(7687-7689)aaG>aaT	p.K2563N	MAST4_uc003jut.2_Missense_Mutation_p.K2374N|MAST4_uc003juw.3_Missense_Mutation_p.K2302N|MAST4_uc003jux.3_Missense_Mutation_p.K127N	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2566						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCAAAGGGAAGGACCCTGCCC	0.652000														34			15		6.72482e-11	7.13239e-11	0.479597	1	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91961	91961	+	RNA	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chrGL000211.1:91961C>T	uc003bnz.1	+	6		c.1317C>T			FLJ43315_uc003boa.3_Intron					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTATAGATTTCCATTATTGTC	0.308000														32			4		0	0	0.217242	0	0
LOC650368	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	G	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr11:3427885A>G	uc010qxs.1	+	8		c.878A>G			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		AGCTTCACAGATCCACCGCTG	0.587000														85			6		0	0	0.217242	0	0
AGAP9	642517	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr10:47207813T>C	uc009xnf.2	-	4	508	c.396_splice	c.e4+1	p.H132_splice	AGAP9_uc001jei.3_Splice_Site	NM_001190810	NP_001177739	D3YTF3	D3YTF3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 (AGAP9), mRNA.	132					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.H228R(20)									TTTACTTACATGGTTTGTACA	0.294000														48			5		0	0	0.184627	0	0
SPECC1L	23384	broad.mit.edu	37	22	24717438	24717438	+	Missense_Mutation	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr22:24717438G>A	uc002zzw.3	+	4	793	c.490G>A	c.(490-492)Gtt>Att	p.V164I	SPECC1L_uc002zzv.4_Missense_Mutation_p.V164I|SPECC1L_uc011ajq.2_Missense_Mutation_p.V164I|SPECC1L_uc021wne.1_Non-coding_Transcript	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA.	164					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGAATGTGACGTTCGTATGAG	0.478000														210			85		0	0	0.870114	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125876347	125876347	+	Missense_Mutation	SNP	G	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:125876347G>C	uc003eim.1	-	3	557	c.367C>G	c.(367-369)Ctc>Gtc	p.L123V	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.3_5'Flank|ALDH1L1_uc010hsf.1_Missense_Mutation_p.L149V|ALDH1L1_uc003eip.1_Missense_Mutation_p.L32V|ALDH1L1_uc011bkj.1_5'UTR	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	123	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCGTGAATGAGGGTCCTAGGA	0.597000														268			78		0	0	0.870114	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185364845	185364845	+	Missense_Mutation	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:185364845C>T	uc003fpo.3	-	14	1754	c.1675G>A	c.(1675-1677)Gtc>Atc	p.V559I	IGF2BP2_uc010hyi.3_Missense_Mutation_p.V502I|IGF2BP2_uc010hyj.3_Missense_Mutation_p.V496I|IGF2BP2_uc010hyk.3_Missense_Mutation_p.V423I|IGF2BP2_uc010hyl.3_Missense_Mutation_p.V453I|IGF2BP2_uc003fpp.3_Missense_Mutation_p.V516I|IGF2BP2_uc003fpq.3_Missense_Mutation_p.V564I	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA.	559	KH 4.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.I558I(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATAATTCTGACGATCACTTCC	0.507000														258			70		0	0	0.870114	0	0
AK302879	0	broad.mit.edu	37	15	76067987	76067987	+	Missense_Mutation	SNP	A	G	G	rs34243492	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr15:76067987A>G	uc010umm.1	+	0	94	c.17A>G	c.(16-18)cAa>cGa	p.Q6R	DNM1P35_uc021sqp.1_Intron					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		GAAGAAACTCAACAGAGTAAA	0.537000														113			6		0	0	0.248553	0	0
CPO	130749	broad.mit.edu	37	2	207827279	207827279	+	Missense_Mutation	SNP	C	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:207827279C>A	uc002vby.2	+	6	764	c.718C>A	c.(718-720)Cag>Aag	p.Q240K		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	Homo sapiens carboxypeptidase O (CPO), mRNA.	240					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CTCTTATGGGCAGTTAATTCT	0.458000														394			96		7.62712e-44	8.8983e-44	0.870114	1	0
FAT2	2196	broad.mit.edu	37	5	150945261	150945261	+	Missense_Mutation	SNP	C	T	T	rs142737825	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:150945261C>T	uc003lue.4	-	0	3245	c.3232G>A	c.(3232-3234)Gca>Aca	p.A1078T	FAT2_uc010jhx.1_Missense_Mutation_p.A1078T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1078	Cadherin 9.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAAGGCTGCGAGTCCAGTG	0.597000														96			36		0	0	0.796494	0	0
OR2A5	393046	broad.mit.edu	37	7	143747854	143747854	+	Silent	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:143747854C>T	uc011ktw.2	+	0	360	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGATGTCCTACGATCGGTACA	0.468000														387			172		0	0	0.870114	0	0
LOC595101	595101	broad.mit.edu	37	16	30309813	30309813	+	RNA	SNP	C	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:30309813C>A	uc002dxp.1	-	5		c.1015G>T								Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) pseudogene (LOC595101), non-coding RNA.																		TTTGCTAAAACTCCACTTGAA	0.428000														58			4		3.59834e-05	3.70417e-05	0.217242	1	0
ZNF629	23361	broad.mit.edu	37	16	30793072	30793072	+	Silent	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:30793072G>A	uc002dzs.1	-	2	2785	c.2577C>T	c.(2575-2577)ctC>ctT	p.L859L		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	859					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGCTCCTATGGAGCAGGAGGG	0.572000														143			73		0	0	0.870114	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91951	91951	+	RNA	SNP	C	G	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chrGL000211.1:91951C>G	uc003bnz.1	+	6		c.1307C>G			FLJ43315_uc003boa.3_Intron					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAATTTATCTATAGATTTC	0.318000														38			5		0	0	0.248553	0	0
OR2M3	127062	broad.mit.edu	37	1	248366501	248366501	+	Silent	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:248366501C>T	uc010pzg.2	+	0	132	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAAACTCTGTCATGGTTCTCC	0.547000														715			140		0	0	0.870114	0	0
CDH8	1006	broad.mit.edu	37	16	61851519	61851519	+	Missense_Mutation	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:61851519C>T	uc002eog.2	-	6	2096	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	CDH8_uc002eoh.3_Missense_Mutation_p.V150M	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	381	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTTCAACCACGATTTTGACT	0.483000														151			50		0	0	0.870114	0	0
LOC642846	642846	broad.mit.edu	37	12	9463867	9463867	+	RNA	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr12:9463867G>A	uc001qvp.2	+	11		c.1093G>A			LOC642846_uc010sgp.1_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.																		CTGCTGGGCCGTCTGGCTGCC	0.622000														58			5		0	0	0.411799	0	0
CPB1	1360	broad.mit.edu	37	3	148563350	148563350	+	Nonsense_Mutation	SNP	C	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:148563350C>A	uc003ewl.3	+	8	941	c.918C>A	c.(916-918)taC>taA	p.Y306*		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	306					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCCACTCGTACTCCCAAATGA	0.443000														202			109		5.93467e-45	7.04114e-45	0.870114	1	0
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	G	G	rs12107841	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:195400728A>G	uc003fuw.3	+	8	1218	c.24A>G	c.(22-24)ccA>ccG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GATTGTGCCCAGCCTGTACGC	0.587000														230			13		0	0	0.500413	0	0
PDAP1	11333	broad.mit.edu	37	7	98995523	98995523	+	Missense_Mutation	SNP	C	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:98995523C>T	uc003uqe.3	-	4	583	c.449G>A	c.(448-450)cGg>cAg	p.R150Q		NM_014891	NP_055706	Q13442	HAP28_HUMAN	Homo sapiens PDGFA associated protein 1 (PDAP1), mRNA.	150					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	AGCCTCCTCCCGCTGTTTCCG	0.602000														238			101		0	0	0.870114	0	0
SNHG7	84973	broad.mit.edu	37	9	139620623	139620623	+	RNA	SNP	T	G	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr9:139620623T>G	uc011mec.2	-	0		c.67A>C			SNHG7_uc004cim.2_Intron|SNHG7_uc004cin.3_Intron|SNHG7_uc004ciq.4_Intron|SNHG7_uc004cio.3_Intron|SNHG7_uc011meb.2_Non-coding_Transcript					Homo sapiens small nucleolar RNA, H/ACA box 43 (SNORA43), small nucleolar RNA.																		AAATCGCCACTTTCTCTTTGC	0.567000														78			47		0	0	0.859065	0	0
ABLIM1	3983	broad.mit.edu	37	10	116444085	116444085	+	Missense_Mutation	SNP	G	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr10:116444085G>A	uc021pyy.1	-	0	330	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F	ABLIM1_uc021pyz.1_Missense_Mutation_p.L4F|ABLIM1_uc021pza.1_Missense_Mutation_p.L10F|ABLIM1_uc021pzf.1_Missense_Mutation_p.L4F|ABLIM1_uc001lbz.1_Intron	NM_001003408	NP_001003408	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 3, mRNA.	0					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGGTCCGTGAGCTCAGTCATT	0.463000														155			58		0	0	0.870114	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	T	T	rs121913529		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				36			36		0	0	0.804634	0	0
COL11A1	1301	broad.mit.edu	37	1	103355065	103355065	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:103355065delT	uc001dum.3	-	58	4764	c.4446delA	c.(4444-4446)aaafs	p.K1482fs	COL11A1_uc001duk.3_Frame_Shift_Del_p.K666fs|COL11A1_uc001dul.3_Frame_Shift_Del_p.K1470fs|COL11A1_uc001dun.3_Frame_Shift_Del_p.K1431fs|COL11A1_uc009weh.3_Frame_Shift_Del_p.K1354fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1470	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCGGTCACCTTTTTCCCCTT	0.408													---	326	---	---	7	---					
EPS8L3	79574	broad.mit.edu	37	1	110300579	110300580	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:110300579_110300580insT	uc001dyr.2	-	8	1043_1044	c.818_819insA	c.(817-819)aacfs	p.N273fs	EPS8L3_uc001dys.2_Frame_Shift_Ins_p.N273fs|EPS8L3_uc001dyq.2_Frame_Shift_Ins_p.N274fs|EPS8L3_uc009wfm.2_Frame_Shift_Ins_p.N240fs|EPS8L3_uc009wfn.2_Frame_Shift_Ins_p.N248fs|EPS8L3_uc009wfo.2_Frame_Shift_Ins_p.N220fs	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	273						cytoplasm	protein binding	p.N274fs*33(2)|p.K272E(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545													---	464	---	---	7	---					
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:145457040_145457042delTCT	uc001enp.1	-	6	626_628	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E		NM_032305	NP_115681	Q9BT43	RPC7L_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like (POLR3GL), mRNA.	173	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448													---	125	---	---	7	---					
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	-	-	rs149280379		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:150530506delG	uc009wlw.3	+	13	2490	c.2332delG	c.(2332-2334)gggfs	p.G778fs	ADAMTSL4_uc001euw.3_Frame_Shift_Del_p.G755fs|ADAMTSL4_uc001eux.3_Frame_Shift_Del_p.G755fs|ADAMTSL4_uc010pcg.2_Frame_Shift_Del_p.G716fs|ADAMTSL4_uc009wlx.3_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	755	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692													---	773	---	---	9	---					
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:154680586_154680588delGCT	uc021pah.1	-	8	2419_2421	c.2105_2107delAGC	c.(2104-2109)cagctc>ctc	p.Q702del	KCNN3_uc001ffo.3_In_Frame_Del_p.Q382del|KCNN3_uc001ffp.3_In_Frame_Del_p.Q687del	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	692						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GCAGACAGGAGCTGCTGCTGCTG	0.640													---	744	---	---	16	---					
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	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													---	687	---	---	12	---					
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:248616705_248616711delTGCTGCG	uc001iek.1	+	0	607_613	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.C203fs		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527													---	313	---	---	14	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:26022304_26022306delCTG	uc002rgs.2	-	3	572_574	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													---	484	---	---	9	---					
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:39095411_39095413delCCA	uc002rrf.3	-	1	234_236	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_uc002rre.3_5'Flank|DHX57_uc002rrg.3_In_Frame_Del_p.45_46GG>G	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	45	Gly-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532													---	327	---	---	10	---					
PLA2R1	22925	broad.mit.edu	37	2	160801441	160801442	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:160801441_160801442insT	uc002ube.2	-	27	4331_4332	c.4119_4120insA	c.(4117-4122)aaaggcfs	p.K1373fs	PLA2R1_uc010zcp.2_Frame_Shift_Ins_p.K1371fs	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1373	C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATATAAAGCCTTTTTTTTCTT	0.401													---	585	---	---	7	---					
TNS1	7145	broad.mit.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:218712887_218712889delGCT	uc002vgt.2	-	16	2374_2376	c.1976_1978delAGC	c.(1975-1980)cagcct>cct	p.Q659del	TNS1_uc002vgr.2_In_Frame_Del_p.Q659del|TNS1_uc002vgs.2_In_Frame_Del_p.Q659del|TNS1_uc010zjv.1_In_Frame_Del_p.Q659del|TNS1_uc010fvj.1_In_Frame_Del_p.Q727del|TNS1_uc010fvk.1_In_Frame_Del_p.Q784del|TNS1_uc010fvi.1_In_Frame_Del_p.Q346del	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	659	Gln-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.660													---	156	---	---	8	---					
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:242738494_242738496delTCC	uc002wcj.1	+	1	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA.	20					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631													---	451	---	---	9	---					
MST1	4485	broad.mit.edu	37	3	49725275	49725279	+	Frame_Shift_Del	DEL	GTGCT	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:49725275_49725279delGTGCT	uc003cxg.3	-	1	218_222	c.146_150delAGCAC	c.(145-150)cagcacfs	p.Q49fs	MST1_uc011bcs.1_Frame_Shift_Del_p.Q49fs|MST1_uc010hkx.2_5'UTR|MST1_uc011bct.1_Frame_Shift_Del_p.Q49fs|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	35	PAN.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CATGTAGCAGGTGCTGTAGCTCTGT	0.610													---	167	---	---	10	---					
KIAA1407	57577	broad.mit.edu	37	3	113737652	113737653	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:113737652_113737653insC	uc003eax.3	-	7	1182_1183	c.1035_1036insG	c.(1033-1038)gggaaafs	p.G345fs	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Frame_Shift_Ins_p.G323fs|KIAA1407_uc011bip.1_Frame_Shift_Ins_p.G332fs	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	345								p.G345W(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GTCCCAGCTTTCCCCAGCTTAA	0.505													---	1261	---	---	8	---					
RNF168	165918	broad.mit.edu	37	3	196214338	196214338	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:196214338delT	uc003fwq.3	-	2	1085	c.490delA	c.(490-492)aggfs	p.R164fs	RNF168_uc010iah.3_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	164	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCTCTTCGCCTTTTTTCTGCC	0.448													---	1153	---	---	7	---					
NPNT	255743	broad.mit.edu	37	4	106863682	106863684	+	In_Frame_Del	DEL	CCA	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr4:106863682_106863684delCCA	uc011cfd.2	+	8	1285_1287	c.1072_1074delCCA	c.(1072-1074)ccadel	p.P363del	NPNT_uc011cfc.2_In_Frame_Del_p.P350del|NPNT_uc011cfe.2_In_Frame_Del_p.P363del|NPNT_uc003hya.3_In_Frame_Del_p.P333del|NPNT_uc011cff.2_In_Frame_Del_p.P333del	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	333	Pro-rich.				cell differentiation	membrane	calcium ion binding	p.S362T(2)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522													---	382	---	---	9	---					
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	-	-	rs80118146		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:115202418_115202421delAAGA	uc003krl.3	+	1	237_240	c.121_124delAAGA	c.(121-126)aagagafs	p.K41fs	AP3S1_uc003krk.3_Frame_Shift_Del_p.K19fs	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.	41					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|Golgi apparatus|cytoplasmic vesicle membrane|transport vesicle	protein binding|protein transporter activity	p.R42I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304													---	121	---	---	11	---					
PCDHB4	56131	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	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													---	522	---	---	10	---					
PPARGC1B	133522	broad.mit.edu	37	5	149216457	149216459	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:149216457_149216459delGGA	uc003lrc.3	+	7	2530_2532	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_uc003lrb.2_In_Frame_Del_p.E818del|PPARGC1B_uc003lrd.3_In_Frame_Del_p.E779del|PPARGC1B_uc021yfr.1_In_Frame_Del_p.E754del|PPARGC1B_uc003lre.1_In_Frame_Del_p.E797del|PPARGC1B_uc003lrf.3_In_Frame_Del_p.E797del	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	818	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity	p.E818G(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaagaaggggaggaggaggag	0.606													---	459	---	---	13	---					
SYNGAP1	8831	broad.mit.edu	37	6	33411201	33411203	+	In_Frame_Del	DEL	CAC	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr6:33411201_33411203delCAC	uc011dri.2	+	14	3067_3069	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_uc010juy.3_In_Frame_Del_p.H937del|SYNGAP1_uc010juz.3_In_Frame_Del_p.H678del	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	966					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645													---	860	---	---	9	---					
C8orf42	157695	broad.mit.edu	37	8	442574	442574	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr8:442574delC	uc011kwg.1	-	2	957	c.383delG	c.(382-384)ggtfs	p.G128fs	C8orf42_uc022aqm.1_5'Flank|C8orf42_uc003wpd.3_Frame_Shift_Del_p.G128fs	NM_175075	NP_778250	Q86YL5	CH042_HUMAN	Homo sapiens chromosome 8 open reading frame 42 (C8orf42), transcript variant 1, mRNA.	128										cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255)		TGGGTGGCCACCCACGGTGTC	0.552													---	78	---	---	41	---					
TERF1	7013	broad.mit.edu	37	8	73921284	73921286	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr8:73921284_73921286delGAG	uc003xzd.2	+	0	188_190	c.163_165delGAG	c.(163-165)gagdel	p.E62del	TERF1_uc003xzc.2_Non-coding_Transcript|TERF1_uc003xze.2_In_Frame_Del_p.E62del	NM_017489	NP_059523	P54274	TERF1_HUMAN	Homo sapiens telomeric repeat binding factor (NIMA-interacting) 1 (TERF1), transcript variant 1, mRNA.	62	Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.				G2/M transition of mitotic cell cycle|age-dependent telomere shortening|cell division|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	DNA bending activity|caspase activator activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGGGGCCCCCgaggaggaggagg	0.650													---	102	---	---	7	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	-	-	rs11279082		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr9:100616701_100616706delGCCGCC	uc004axu.3	+	0	1165_1170	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473	NP_004464	O00358	FOXE1_HUMAN	Homo sapiens forkhead box E1 (thyroid transcription factor 2) (FOXE1), mRNA.	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													---	30	---	---	9	---					
FAM171A1	221061	broad.mit.edu	37	10	15254987	15254989	+	In_Frame_Del	DEL	TCA	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:15254987_15254989delTCA	uc001iob.3	-	7	2605_2607	c.2598_2600delTGA	c.(2596-2601)gatgac>gac	p.866_867DD>D		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	866						integral to membrane		p.D865Y(1)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTCTCCTTGGTCATCATCATCAT	0.571													---	914	---	---	7	---					
KIAA0913	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:75560463_75560464insC	uc001jvj.3	+	23	5308_5309	c.5053_5054insC	c.(5053-5055)tccfs	p.S1685fs	KIAA0913_uc001jve.3_Frame_Shift_Ins_p.S1698fs|KIAA0913_uc009xrl.3_Frame_Shift_Ins_p.S1693fs|KIAA0913_uc001jvf.3_Frame_Shift_Ins_p.S1511fs|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Frame_Shift_Ins_p.S1120fs|KIAA0913_uc010qkr.2_Frame_Shift_Ins_p.S1108fs|KIAA0913_uc009xrn.2_Frame_Shift_Ins_p.S104fs	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	1693							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CTTCTCCCGCTCCCCCCCCTAC	0.604													---	528	---	---	7	---					
KDM5A	5927	broad.mit.edu	37	12	416952	416953	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:416952_416953insT	uc001qif.1	-	22	3960_3961	c.3597_3598insA	c.(3595-3600)aaaggafs	p.K1199fs		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1199					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAGCTGGATCCTTTTTTTTGGG	0.475			T	NUP98	AML								---	413	---	---	8	---					
GPR19	2842	broad.mit.edu	37	12	12814273	12814274	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:12814273_12814274insT	uc001rar.3	-	1	1302_1303	c.1109_1110insA	c.(1108-1110)aacfs	p.N370fs	GPR19_uc001raq.2_Frame_Shift_Ins_p.N370fs|GPR19_uc021qvj.1_Frame_Shift_Ins_p.N370fs	NM_006143	NP_006134	Q15760	GPR19_HUMAN	Homo sapiens G protein-coupled receptor 19 (GPR19), mRNA.	370						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		TGCCAACGTAGTTTTTTTTGGC	0.396													---	504	---	---	9	---					
XPOT	11260	broad.mit.edu	37	12	64812755	64812755	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:64812755delT	uc001ssb.3	+	5	876	c.370delT	c.(370-372)tttfs	p.F124fs	XPOT_uc009zqm.2_Frame_Shift_Del_p.F34fs	NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	124	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.F126fs*6(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GTGGCCCAAGTTTTTTTTTGA	0.443													---	320	---	---	8	---					
BEST3	144453	broad.mit.edu	37	12	70070790	70070790	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:70070790delA	uc001svg.3	-	6	1000	c.773delT	c.(772-774)ttgfs	p.L258fs	BEST3_uc001svd.2_Frame_Shift_Del_p.L258fs|BEST3_uc001svf.3_Intron|BEST3_uc010stm.2_Frame_Shift_Del_p.L152fs	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	258						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGGGATCCAAAAACTGGCG	0.502													---	1845	---	---	7	---					
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:72094757delT	uc001sws.3	+	5	1576	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	331						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433													---	1458	---	---	12	---					
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr13:23914687delT	uc001uon.2	-	9	3917	c.3328delA	c.(3328-3330)attfs	p.I1110fs	SACS_uc001uoo.2_Frame_Shift_Del_p.I963fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1110					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383													---	737	---	---	9	---					
KIAA0391	9692	broad.mit.edu	37	14	35592700	35592700	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:35592700delT	uc001wsy.1	+	1	609	c.249delT	c.(247-249)catfs	p.H83fs	KIAA0391_uc010tps.1_Intron|KIAA0391_uc001wsz.1_Frame_Shift_Del_p.H83fs|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.3_5'Flank|PPP2R3C_uc001wst.3_5'Flank|PPP2R3C_uc010tpr.2_5'Flank|PPP2R3C_uc001wsu.3_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.3_5'Flank|PPP2R3C_uc001wsx.1_5'Flank	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	83					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTGTTCCTCATTTTTTTTTAG	0.423													---	145	---	---	9	---					
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	-	-	rs139532153		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	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													---	236	---	---	8	---					
C14orf49	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:95921888_95921890delCTC	uc001yei.4	-	4	976_978	c.961_963delGAG	c.(961-963)gagdel	p.E321del	C14orf49_uc010avi.3_In_Frame_Del_p.E321del|C14orf49_uc001yej.1_In_Frame_Del_p.E321del	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	321					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCCGCAGCCGCTCCTCCTCCTCC	0.616													---	509	---	---	9	---					
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:30982809_30982811delTCC	uc002ead.1	+	12	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1058	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547													---	365	---	---	10	---					
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	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													---	327	---	---	15	---					
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:67913767_67913769delCAG	uc002eur.3	+	15	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	EDC4_uc010cer.3_In_Frame_Del_p.S236del|EDC4_uc010vkg.1_In_Frame_Del_p.S549del|EDC4_uc002eus.3_In_Frame_Del_p.S347del|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611													---	414	---	---	8	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:45219612delA	uc002ile.4	-	10	1506	c.1379delT	c.(1378-1380)ctafs	p.L460fs	CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	454				Missing (in Ref. 1; AAA60471).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													---	99	---	---	15	---					
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr18:55992284_55992286delTCC	uc002lgy.3	+	8	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_uc002lgz.3_In_Frame_Del_p.P194del|NEDD4L_uc002lgx.3_In_Frame_Del_p.P194del|NEDD4L_uc010xee.1_In_Frame_Del_p.P73del|NEDD4L_uc002lhc.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhd.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhb.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhe.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhf.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhg.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhh.2_In_Frame_Del_p.P73del|NEDD4L_uc010dpm.1_In_Frame_Del_p.P45del	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	194	WW 1.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498													---	546	---	---	8	---					
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:16640581_16640583delTGC	uc002nei.1	-	7	1079_1081	c.1005_1007delGCA	c.(1003-1008)cagcaa>caa	p.335_336QQ>Q	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	335	Gln-rich.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.Q336Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.670													---	185	---	---	9	---					
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:17160706_17160707delGA	uc002nfe.3	-	10	1320_1321	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.S403fs	HAUS8_uc002nff.3_Frame_Shift_Del_p.S402fs	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 8 (HAUS8), transcript variant 1, mRNA.	403					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495													---	959	---	---	10	---					
CRTC1	23373	broad.mit.edu	37	19	18887993	18887993	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:18887993delC	uc010ebv.3	+	14	1842	c.1754delC	c.(1753-1755)tccfs	p.S585fs	CRTC1_uc002nkb.4_Frame_Shift_Del_p.S569fs|CRTC1_uc010ebw.3_Frame_Shift_Del_p.S405fs	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	569					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	p.S572fs*6(2)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ACAGGAGAGTCCCCCCCCAGC	0.637													---	391	---	---	9	---					
ZNF573	126231	broad.mit.edu	37	19	38229203	38229203	+	Splice_Site	DEL	C	-	-	rs74268405		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:38229203delC	uc002ohe.3	-	5	2257	c.2188_splice	c.e5+1		ZNF573_uc010efs.2_Splice_Site|ZNF573_uc002ohd.3_Splice_Site|ZNF573_uc002ohf.3_Splice_Site|ZNF573_uc002ohg.3_Splice_Site|ZNF573_uc021utv.1_Splice_Site	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTTTTTTTTCTTAATTTACC	0.328													---	151	---	---	7	---					
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	-	-	rs62639328	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	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													---	828	---	---	14	---					
TSKS	60385	broad.mit.edu	37	19	50249933	50249950	+	In_Frame_Del	DEL	CTGCTTCTCCTCCGGCTC	-	-	rs76911687	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:50249933_50249950delCTGCTTCTCCTCCGGCTC	uc002ppm.3	-	5	780_797	c.769_786delGAGCCGGAGGAGAAGCAG	c.(769-786)gagccggaggagaagcagdel	p.EPEEKQ257del		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	257							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		cctccggcttctgcttctcctccggctcctgcttctcc	0.720													---	125	---	---	21	---					
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	AT	AT			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:29625899_29625900insAT	uc010ztl.1	+	1	85_86	c.53_54insAT	c.(52-54)aaafs	p.K18fs	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342													---	288	---	---	10	---					
SNX21	90203	broad.mit.edu	37	20	44469908	44469908	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:44469908delC	uc002xpv.1	+	3	1167	c.1078delC	c.(1078-1080)cccfs	p.P360fs	SNX21_uc002xpt.1_3'UTR|SNX21_uc002xps.1_Intron|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Frame_Shift_Del_p.P171fs|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Frame_Shift_Del_p.P171fs|SNX21_uc002xpz.1_Frame_Shift_Del_p.P171fs	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	Homo sapiens sorting nexin family member 21 (SNX21), transcript variant 1, mRNA.	360					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CCCCACACCACCCCCCAGTCT	0.617													---	841	---	---	8	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:56099187delT	uc010giw.1	-	1	186	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_uc010gix.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.3_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_Intron|CTCFL_uc010gjh.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.2_Intron|CTCFL_uc010gjj.2_Frame_Shift_Del_p.K25fs|CTCFL_uc021wfe.1_Frame_Shift_Del_p.K25fs|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	25					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													---	1719	---	---	9	---					
HMGXB4	10042	broad.mit.edu	37	22	35661544	35661544	+	Frame_Shift_Del	DEL	A	-	-	rs76572304		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr22:35661544delA	uc003anl.3	+	4	1337	c.1163delA	c.(1162-1164)gaafs	p.E388fs	HMGXB4_uc011amh.1_Frame_Shift_Del_p.E279fs|HMGXB4_uc003ank.3_Frame_Shift_Del_p.E279fs	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	388					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCATAGTGAaaaaaaaaag	0.493													---	197	---	---	13	---					
COL11A1	1301	broad.mit.edu	37	1	103355065	103355065	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:103355065delT	uc001dum.3	-	58	4764	c.4446delA	c.(4444-4446)aaafs	p.K1482fs	COL11A1_uc001duk.3_Frame_Shift_Del_p.K666fs|COL11A1_uc001dul.3_Frame_Shift_Del_p.K1470fs|COL11A1_uc001dun.3_Frame_Shift_Del_p.K1431fs|COL11A1_uc009weh.3_Frame_Shift_Del_p.K1354fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1470	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCGGTCACCTTTTTCCCCTT	0.408													---	326	---	---	7	---					
EPS8L3	79574	broad.mit.edu	37	1	110300579	110300580	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:110300579_110300580insT	uc001dyr.2	-	8	1043_1044	c.818_819insA	c.(817-819)aacfs	p.N273fs	EPS8L3_uc001dys.2_Frame_Shift_Ins_p.N273fs|EPS8L3_uc001dyq.2_Frame_Shift_Ins_p.N274fs|EPS8L3_uc009wfm.2_Frame_Shift_Ins_p.N240fs|EPS8L3_uc009wfn.2_Frame_Shift_Ins_p.N248fs|EPS8L3_uc009wfo.2_Frame_Shift_Ins_p.N220fs	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	273						cytoplasm	protein binding	p.N274fs*33(2)|p.K272E(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545													---	464	---	---	7	---					
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:145457040_145457042delTCT	uc001enp.1	-	6	626_628	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E		NM_032305	NP_115681	Q9BT43	RPC7L_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like (POLR3GL), mRNA.	173	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448													---	125	---	---	7	---					
TCHH	7062	broad.mit.edu	37	1	152084561	152084562	+	In_Frame_Ins	INS	-	CTC	CTC			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:152084561_152084562insCTC	uc009wne.1	-	2	1403_1404	c.1131_1132insGAG	c.(1129-1134)insGAG	p.377_378insE	TCHH_uc001ezp.2_In_Frame_Ins_p.377_378insE	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	377	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgctcgcgcctcagctgctgct	0.718													---	109	---	---	11	---					
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	-	-	rs140875805	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:152324558_152324559delTG	uc001ezw.4	-	2	5776_5777	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.H1901fs	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													---	1049	---	---	15	---					
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:154680586_154680588delGCT	uc021pah.1	-	8	2419_2421	c.2105_2107delAGC	c.(2104-2109)cagctc>ctc	p.Q702del	KCNN3_uc001ffo.3_In_Frame_Del_p.Q382del|KCNN3_uc001ffp.3_In_Frame_Del_p.Q687del	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	692						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GCAGACAGGAGCTGCTGCTGCTG	0.640													---	744	---	---	16	---					
NR1I3	9970	broad.mit.edu	37	1	161202999	161203000	+	Frame_Shift_Ins	INS	-	G	G	rs139473535	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:161202999_161203000insG	uc001fzx.3	-	3	570_571	c.367_368insC	c.(367-369)cgcfs	p.R123fs	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzm.3_Frame_Shift_Ins_p.R48fs|NR1I3_uc001fzn.3_Intron|NR1I3_uc001fzf.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc009wug.3_Intron|NR1I3_uc001fzo.3_Intron|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Intron|NR1I3_uc001fzq.3_Intron|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzw.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzz.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzh.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001gab.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001gac.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzp.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzg.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001gaa.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzj.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzi.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzl.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzk.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc010pkm.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc010pkn.1_Frame_Shift_Ins_p.R123fs	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	123					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCCATGTGGCGGGTGTGGGCC	0.564													---	1163	---	---	7	---					
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:201843998_201844000delGAG	uc001gwz.3	+	21	2922_2924	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E962del		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	962					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	p.E962D(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443													---	406	---	---	7	---					
GPR37L1	9283	broad.mit.edu	37	1	202097525	202097527	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:202097525_202097527delCTG	uc001gxj.3	+	1	1350_1352	c.1287_1289delCTG	c.(1285-1290)gactgc>gac	p.C436del		NM_004767	NP_004758	O60883	ETBR2_HUMAN	Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA.	436	Cys-rich.					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCTTCCTGGActgctgctgctgc	0.626													---	219	---	---	7	---					
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:39095411_39095413delCCA	uc002rrf.3	-	1	234_236	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_uc002rre.3_5'Flank|DHX57_uc002rrg.3_In_Frame_Del_p.45_46GG>G	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	45	Gly-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532													---	327	---	---	10	---					
SULT1C3	442038	broad.mit.edu	37	2	108863685	108863685	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:108863685delA	uc010ywo.2	+	0	35	c.35delA	c.(34-36)gaafs	p.E12fs		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	12						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCCACGATGGAAAAAAAGCCA	0.353													---	308	---	---	7	---					
PLA2R1	22925	broad.mit.edu	37	2	160801441	160801442	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:160801441_160801442insT	uc002ube.2	-	27	4331_4332	c.4119_4120insA	c.(4117-4122)aaaggcfs	p.K1373fs	PLA2R1_uc010zcp.2_Frame_Shift_Ins_p.K1371fs	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1373	C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATATAAAGCCTTTTTTTTCTT	0.401													---	585	---	---	7	---					
TNS1	7145	broad.mit.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:218712887_218712889delGCT	uc002vgt.2	-	16	2374_2376	c.1976_1978delAGC	c.(1975-1980)cagcct>cct	p.Q659del	TNS1_uc002vgr.2_In_Frame_Del_p.Q659del|TNS1_uc002vgs.2_In_Frame_Del_p.Q659del|TNS1_uc010zjv.1_In_Frame_Del_p.Q659del|TNS1_uc010fvj.1_In_Frame_Del_p.Q727del|TNS1_uc010fvk.1_In_Frame_Del_p.Q784del|TNS1_uc010fvi.1_In_Frame_Del_p.Q346del	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	659	Gln-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.660													---	156	---	---	8	---					
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:227660808_227660810delGCT	uc021vxn.1	-	0	2645_2647	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_uc002voh.4_In_Frame_Del_p.Q882del	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	882	Poly-Gln.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626													---	406	---	---	9	---					
TMEM40	55287	broad.mit.edu	37	3	12790156	12790158	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:12790156_12790158delGAG	uc011auv.1	-	2	422_424	c.255_257delCTC	c.(253-258)tcctca>tca	p.85_86SS>S	TMEM40_uc003bxg.1_In_Frame_Del_p.69_70SS>S|TMEM40_uc003bxh.1_In_Frame_Del_p.69_70SS>S	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	69						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TGCTATACCTgaggaggaggagg	0.394													---	508	---	---	7	---					
VENTXP7	391518	broad.mit.edu	37	3	21447901	21447902	+	RNA	INS	-	CC	CC	rs143568999	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:21447901_21447902insCC	uc003ccd.3	+	0		c.684_685insCC								Homo sapiens VENT homeobox pseudogene 7 (VENTXP7), non-coding RNA.																		CTGGCATACCACCCCCCACGCC	0.663													---	22	---	---	11	---					
KIAA1407	57577	broad.mit.edu	37	3	113737652	113737653	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:113737652_113737653insC	uc003eax.3	-	7	1182_1183	c.1035_1036insG	c.(1033-1038)gggaaafs	p.G345fs	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Frame_Shift_Ins_p.G323fs|KIAA1407_uc011bip.1_Frame_Shift_Ins_p.G332fs	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	345								p.G345W(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GTCCCAGCTTTCCCCAGCTTAA	0.505													---	1261	---	---	8	---					
ZXDC	79364	broad.mit.edu	37	3	126178522	126178522	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:126178522delT	uc003eiv.3	-	6	2240	c.2186delA	c.(2185-2187)aagfs	p.K729fs	ZXDC_uc010hsh.3_Intron|ZXDC_uc003eix.2_3'UTR	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	729					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCCTCTCTGCTTTTTTTCCTT	0.522													---	2248	---	---	8	---					
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:129370576_129370578delCTG	uc021xdy.1	-	5	2142_2144	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_uc003emy.4_In_Frame_Del_p.Q246del|TMCC1_uc011blc.2_In_Frame_Del_p.Q391del|TMCC1_uc010htg.3_In_Frame_Del_p.Q456del	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	570						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581													---	571	---	---	15	---					
RNF168	165918	broad.mit.edu	37	3	196214338	196214338	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:196214338delT	uc003fwq.3	-	2	1085	c.490delA	c.(490-492)aggfs	p.R164fs	RNF168_uc010iah.3_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	164	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCTCTTCGCCTTTTTTCTGCC	0.448													---	1153	---	---	7	---					
CXXC4	80319	broad.mit.edu	37	4	105412465	105412467	+	Splice_Site	DEL	GCC	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr4:105412465_105412467delGCC	uc003hxg.3	-	1	1	c.-14_splice	c.e1-1		AK094561_uc003hxh.1_Intron|CXXC4_uc010ilo.3_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	Homo sapiens CXXC finger protein 4 (CXXC4), mRNA.						Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGGTCCTgctgccgccgccgccg	0.695													---	368	---	---	7	---					
MAML3	55534	broad.mit.edu	37	4	140810639	140810641	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr4:140810639_140810641delGCT	uc021xsg.1	-	1	2701_2703	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	646	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586													---	320	---	---	11	---					
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:1879669_1879671delCCT	uc003jcz.2	-	3	802_804	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_uc011cmf.1_In_Frame_Del_p.E89del	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685													---	243	---	---	8	---					
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	GCC	GCC	rs34838882	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:113698631_113698632insGCC	uc003kqo.3	+	0	616_617	c.159_160insGCC	c.(157-162)insGCC	p.58_59insA		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	58	Poly-Ala.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.A58_V59insA(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CTGCAGCCGCTGCCGCCGCCGC	0.703													---	43	---	---	24	---					
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:140052285delT	uc003lgt.3	-	2	393	c.349delA	c.(349-351)acgfs	p.T117fs		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	Homo sapiens dead end homolog 1 (zebrafish) (DND1), mRNA.	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	p.T117fs*24(2)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													---	36	---	---	7	---					
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	Frame_Shift_Ins	INS	-	T	T	rs17875385		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr6:29694802_29694803insT	uc003nno.4	+	6	1303_1304	c.1179_1180insT	c.(1177-1182)ttgtttfs	p.L393fs	HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|HLA-F-AS1_uc003nnp.2_Non-coding_Transcript|HLA-F-AS1_uc011dlz.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	0					antigen processing and presentation of peptide antigen via MHC class I|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			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535													---	834	---	---	14	---					
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	GCC	GCC	rs3837151	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:1586662_1586663insGCC	uc003skv.4	-	8	1484_1485	c.1167_1168insGGC	c.(1165-1170)insGGC	p.389_390insG	TMEM184A_uc003skt.4_In_Frame_Ins_p.368_369insG|TMEM184A_uc021zyr.1_In_Frame_Ins_p.194_195insG	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													---	109	---	---	14	---					
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:114270016_114270018delCAG	uc003vhb.3	+	4	927_929	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_In_Frame_Del_p.Q216del|FOXP2_uc003vha.3_In_Frame_Del_p.Q99del|FOXP2_uc011kmv.2_In_Frame_Del_p.Q191del|FOXP2_uc011kmu.2_In_Frame_Del_p.Q208del|FOXP2_uc010ljz.2_In_Frame_Del_p.Q99del|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_In_Frame_Del_p.Q191del|FOXP2_uc003vgx.2_In_Frame_Del_p.Q191del|FOXP2_uc003vhc.3_In_Frame_Del_p.Q216del|FOXP2_uc003vhd.3_In_Frame_Del_p.Q191del	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	191	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507													---	253	---	---	7	---					
C8orf42	157695	broad.mit.edu	37	8	442574	442574	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr8:442574delC	uc011kwg.1	-	2	957	c.383delG	c.(382-384)ggtfs	p.G128fs	C8orf42_uc022aqm.1_5'Flank|C8orf42_uc003wpd.3_Frame_Shift_Del_p.G128fs	NM_175075	NP_778250	Q86YL5	CH042_HUMAN	Homo sapiens chromosome 8 open reading frame 42 (C8orf42), transcript variant 1, mRNA.	128										cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255)		TGGGTGGCCACCCACGGTGTC	0.552													---	78	---	---	41	---					
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr8:41798420_41798422delCTC	uc010lxb.3	-	15	3521_3523	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_uc010lxc.3_In_Frame_Del_p.E993del|KAT6A_uc003xon.4_In_Frame_Del_p.E993del	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	993	Poly-Glu.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGCTTTCCGGCTCCTCCTCCTCC	0.567													---	722	---	---	12	---					
TSNARE1	203062	broad.mit.edu	37	8	143310866	143310868	+	In_Frame_Del	DEL	GAT	-	-	rs142964918		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr8:143310866_143310868delGAT	uc003ywj.3	-	11	1561_1563	c.1522_1524delATC	c.(1522-1524)atcdel	p.I508del	TSNARE1_uc011lju.2_In_Frame_Del_p.I506del|TSNARE1_uc003ywk.3_In_Frame_Del_p.I507del	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	507					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGAGGTGGCGATGATGATGATG	0.512													---	313	---	---	7	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	GGCGGCGGC	GGCGGCGGC	rs3833707	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr9:12775861_12775862insGGCGGCGGC	uc003zkw.3	+	0	850_851	c.147_148insGGCGGCGGC	c.(145-150)insGGCGGCGGC	p.55_56insGGG		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	Homo sapiens chromosome 9 open reading frame 150 (C9orf150), mRNA.	58	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													---	31	---	---	20	---					
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	AGA	AGA	rs145490621	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr10:22498484_22498485insAGA	uc021pob.1	-	0	428_429	c.428_429insTCT	c.(427-429)ctg>ctTCTg	p.143_143L>LL		NM_001199938	NP_001186867			Homo sapiens endogenous Bornavirus-like nucleoprotein 1 (EBLN1), mRNA.																		CAATGCCTATCAGATCACAGCA	0.455													---	12	---	---	14	---					
KIAA0913	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr10:75560463_75560464insC	uc001jvj.3	+	23	5308_5309	c.5053_5054insC	c.(5053-5055)tccfs	p.S1685fs	KIAA0913_uc001jve.3_Frame_Shift_Ins_p.S1698fs|KIAA0913_uc009xrl.3_Frame_Shift_Ins_p.S1693fs|KIAA0913_uc001jvf.3_Frame_Shift_Ins_p.S1511fs|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Frame_Shift_Ins_p.S1120fs|KIAA0913_uc010qkr.2_Frame_Shift_Ins_p.S1108fs|KIAA0913_uc009xrn.2_Frame_Shift_Ins_p.S104fs	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	1693							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CTTCTCCCGCTCCCCCCCCTAC	0.604													---	528	---	---	7	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr10:125528165_125528167delCAG	uc001lhk.1	-	8	1499_1501	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													---	714	---	---	9	---					
MKI67	4288	broad.mit.edu	37	10	129902204	129902205	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr10:129902204_129902205delTG	uc001lke.3	-	12	8094_8095	c.7899_7900delCA	c.(7897-7902)cacaaafs	p.H2633fs	MKI67_uc001lkf.3_Frame_Shift_Del_p.H2273fs|MKI67_uc009yav.1_Frame_Shift_Del_p.H2208fs|MKI67_uc009yaw.1_Frame_Shift_Del_p.H1783fs	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2633	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.H2633D(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGGTTCTTTGTGTGTGTGTG	0.500													---	354	---	---	14	---					
SYVN1	84447	broad.mit.edu	37	11	64898171	64898172	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr11:64898171_64898172delCA	uc001odb.3	-	10	1159_1160	c.1065_1066delTG	c.(1063-1068)cctgccfs	p.P355fs	SYVN1_uc001odc.3_Frame_Shift_Del_p.P355fs|SYVN1_uc009yqc.3_Frame_Shift_Del_p.P304fs	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA.	355	Pro-rich.				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGGTGGGGGGCAGGGGGTGGCC	0.668													---	91	---	---	15	---					
CADM1	23705	broad.mit.edu	37	11	115080312	115080314	+	In_Frame_Del	DEL	TGG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr11:115080312_115080314delTGG	uc001ppi.4	-	7	1187_1189	c.1058_1060delCCA	c.(1057-1062)accatc>atc	p.T353del	CADM1_uc001ppf.4_Intron|CADM1_uc001ppk.4_Intron|CADM1_uc001ppj.4_Intron|CADM1_uc001pph.4_In_Frame_Del_p.T105del	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	353				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		atggtaaggatggtggtggtggt	0.429													---	263	---	---	8	---					
PRMT8	56341	broad.mit.edu	37	12	3649779	3649780	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr12:3649779_3649780insC	uc001qmf.3	+	1	450_451	c.83_84insC	c.(82-84)agcfs	p.S28fs	PRMT8_uc009zed.3_Frame_Shift_Ins_p.S19fs|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	28					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGGTGAACAGCCCCCCCTCCC	0.658													---	672	---	---	9	---					
BEST3	144453	broad.mit.edu	37	12	70070790	70070790	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr12:70070790delA	uc001svg.3	-	6	1000	c.773delT	c.(772-774)ttgfs	p.L258fs	BEST3_uc001svd.2_Frame_Shift_Del_p.L258fs|BEST3_uc001svf.3_Intron|BEST3_uc010stm.2_Frame_Shift_Del_p.L152fs	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	258						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGGGATCCAAAAACTGGCG	0.502													---	1845	---	---	7	---					
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr12:121134166_121134168delGAA	uc001tyy.1	+	4	848_850	c.697_699delGAA	c.(697-699)gaadel	p.E238del		NM_014730	NP_055545	Q14165	MLEC_HUMAN	Homo sapiens malectin (MLEC), mRNA.	238	Poly-Glu.				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458													---	577	---	---	10	---					
THSD1P1	374500	broad.mit.edu	37	13	52796688	52796688	+	RNA	DEL	C	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr13:52796688delC	uc001vgn.3	-	6		c.629delG			THSD1P1_uc001vgm.1_Intron					Homo sapiens mRNA; cDNA DKFZp434F1622 (from clone DKFZp434F1622).																		cgctattgctccccacccatc	0.537													---	70	---	---	10	---					
ABCC4	10257	broad.mit.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr13:95696016delT	uc001vmd.4	-	28	3774	c.3655delA	c.(3655-3657)atcfs	p.I1219fs	ABCC4_uc010afj.3_Intron|ABCC4_uc010afk.3_Frame_Shift_Del_p.I1172fs	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1219	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTCTCCCGGATTTTTTTTTGT	0.378													---	255	---	---	10	---					
C14orf49	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr14:95921888_95921890delCTC	uc001yei.4	-	4	976_978	c.961_963delGAG	c.(961-963)gagdel	p.E321del	C14orf49_uc010avi.3_In_Frame_Del_p.E321del|C14orf49_uc001yej.1_In_Frame_Del_p.E321del	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	321					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCCGCAGCCGCTCCTCCTCCTCC	0.616													---	509	---	---	9	---					
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:30982809_30982811delTCC	uc002ead.1	+	12	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1058	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547													---	365	---	---	10	---					
FUS	2521	broad.mit.edu	37	16	31201632	31201634	+	In_Frame_Del	DEL	GTG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:31201632_31201634delGTG	uc002ebf.3	+	11	1310_1312	c.1205_1207delGTG	c.(1204-1209)agtggt>agt	p.G406del	FUS_uc002ebe.2_In_Frame_Del_p.G402del|FUS_uc002ebg.3_In_Frame_Del_p.G201del|FUS_uc002ebh.3_In_Frame_Del_p.G405del|FUS_uc010caj.1_In_Frame_Del_p.G97del	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	406	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ggtggtggcagtggtggtggtgg	0.557			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								---	373	---	---	9	---					
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	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													---	327	---	---	15	---					
ZFHX3	463	broad.mit.edu	37	16	72822564	72822566	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:72822564_72822566delTGC	uc002fck.3	-	9	10282_10284	c.9609_9611delGCA	c.(9607-9612)cagcaa>caa	p.3203_3204QQ>Q	ZFHX3_uc002fcl.3_In_Frame_Del_p.2289_2290QQ>Q	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3203	Poly-Gln.				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			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)				cacctgtggttgctgctgctgct	0.650													---	687	---	---	13	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr17:45219612delA	uc002ile.4	-	10	1506	c.1379delT	c.(1378-1380)ctafs	p.L460fs	CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	454				Missing (in Ref. 1; AAA60471).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													---	99	---	---	15	---					
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr18:55992284_55992286delTCC	uc002lgy.3	+	8	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_uc002lgz.3_In_Frame_Del_p.P194del|NEDD4L_uc002lgx.3_In_Frame_Del_p.P194del|NEDD4L_uc010xee.1_In_Frame_Del_p.P73del|NEDD4L_uc002lhc.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhd.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhb.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhe.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhf.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhg.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhh.2_In_Frame_Del_p.P73del|NEDD4L_uc010dpm.1_In_Frame_Del_p.P45del	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	194	WW 1.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498													---	546	---	---	8	---					
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:12430217delA	uc002mtp.3	-	3	860	c.622delT	c.(622-624)tggfs	p.W208fs	ZNF563_uc002mtq.2_Intron	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393													---	465	---	---	10	---					
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:17160706_17160707delGA	uc002nfe.3	-	10	1320_1321	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.S403fs	HAUS8_uc002nff.3_Frame_Shift_Del_p.S402fs	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 8 (HAUS8), transcript variant 1, mRNA.	403					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495													---	959	---	---	10	---					
CRTC1	23373	broad.mit.edu	37	19	18887993	18887993	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:18887993delC	uc010ebv.3	+	14	1842	c.1754delC	c.(1753-1755)tccfs	p.S585fs	CRTC1_uc002nkb.4_Frame_Shift_Del_p.S569fs|CRTC1_uc010ebw.3_Frame_Shift_Del_p.S405fs	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	569					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	p.S572fs*6(2)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ACAGGAGAGTCCCCCCCCAGC	0.637													---	391	---	---	9	---					
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:35940788_35940790delCTG	uc002nzg.2	+	1	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_uc010eea.3_In_Frame_Del_p.L62del	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	62						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645													---	230	---	---	8	---					
ZNF573	126231	broad.mit.edu	37	19	38229203	38229203	+	Splice_Site	DEL	C	-	-	rs74268405		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:38229203delC	uc002ohe.3	-	5	2257	c.2188_splice	c.e5+1		ZNF573_uc010efs.2_Splice_Site|ZNF573_uc002ohd.3_Splice_Site|ZNF573_uc002ohf.3_Splice_Site|ZNF573_uc002ohg.3_Splice_Site|ZNF573_uc021utv.1_Splice_Site	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTTTTTTTTCTTAATTTACC	0.328													---	151	---	---	7	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:45911859_45911861delGAA	uc002pbr.1	+	2	645_647	c.639_641delGAA	c.(637-642)cggaag>cgg	p.K219del	PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_In_Frame_Del_p.K217del|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	NM_012099	NP_036231	O15446	RPA34_HUMAN	Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.	217					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	RNA polymerase I transcription factor complex|chromosome	DNA-directed RNA polymerase activity	p.N218fs*58(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													---	683	---	---	15	---					
DHX34	9704	broad.mit.edu	37	19	47883158	47883160	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:47883158_47883160delGGA	uc010xyn.2	+	13	3247_3249	c.2898_2900delGGA	c.(2896-2901)ctggag>ctg	p.E971del	DHX34_uc010xyo.1_In_Frame_Del_p.E100del	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	971						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCAGCAGCTGGAGGAGGAGGAG	0.660													---	319	---	---	9	---					
FLT3LG	2323	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:49978960_49978962delCTG	uc002pnu.3	+	2	156_158	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	FLT3LG_uc002pnw.3_5'UTR|FLT3LG_uc010yau.2_In_Frame_Del_p.L20del|FLT3LG_uc002pnv.3_5'UTR|FLT3LG_uc002pnx.3_In_Frame_Del_p.L20del|FLT3LG_uc010yav.2_5'UTR	NM_001459	NP_001450	P49771	FLT3L_HUMAN	Homo sapiens fms-related tyrosine kinase 3 ligand (FLT3LG), transcript variant 3, mRNA.	20					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621													---	436	---	---	7	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:54675747_54675749delTCC	uc010erf.3	-	1	333_335	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_uc002qdo.3_In_Frame_Del_p.E61del	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645													---	483	---	---	14	---					
LILRB3	11025	broad.mit.edu	37	19	54721186	54721186	+	Splice_Site	DEL	A	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:54721186delA	uc010erh.1	-	13	1924	c.1800_splice	c.e13+1	p.E600_splice	LILRB3_uc002qee.1_Splice_Site_p.E584_splice|LILRB3_uc002qef.1_Splice_Site_p.E583_splice|LILRB3_uc002qer.1_Splice_Site|LILRB3_uc002qes.1_Splice_Site_p.E584_splice|LILRB3_uc002qeh.1_Splice_Site_p.E583_splice|LILRB3_uc002qeg.1_Splice_Site|LILRB3_uc002qei.1_Splice_Site_p.E583_splice|LILRB3_uc002qek.1_Splice_Site_p.E584_splice|LILRB3_uc002qej.1_Splice_Site|LILRB3_uc002qel.1_Splice_Site_p.E583_splice|LILRB3_uc002qem.1_Splice_Site|LILRB3_uc002qen.1_Splice_Site|LILRB3_uc002qeo.1_Splice_Site_p.E584_splice|LILRB3_uc002qep.1_Splice_Site_p.E584_splice|LILRB3_uc002qeq.1_Splice_Site_p.E583_splice	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	583					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAAAGGACTCACCTCAGTGTC	0.607													---	267	---	---	7	---					
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr20:23345921_23345923delGAG	uc010gdb.3	+	2	1075_1077	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_uc002wsy.3_In_Frame_Del_p.E306del|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_In_Frame_Del_p.E306del	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	306					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532													---	294	---	---	7	---					
SNX21	90203	broad.mit.edu	37	20	44469908	44469908	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr20:44469908delC	uc002xpv.1	+	3	1167	c.1078delC	c.(1078-1080)cccfs	p.P360fs	SNX21_uc002xpt.1_3'UTR|SNX21_uc002xps.1_Intron|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Frame_Shift_Del_p.P171fs|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Frame_Shift_Del_p.P171fs|SNX21_uc002xpz.1_Frame_Shift_Del_p.P171fs	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	Homo sapiens sorting nexin family member 21 (SNX21), transcript variant 1, mRNA.	360					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CCCCACACCACCCCCCAGTCT	0.617													---	841	---	---	8	---					
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr21:46276194_46276196delGCA	uc002zgb.2	-	3	648_650	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_uc011afk.2_Intron	NM_004339	NP_004330	P53801	PTTG_HUMAN	Homo sapiens pituitary tumor-transforming 1 interacting protein (PTTG1IP), mRNA.	121	Poly-Cys.				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616													---	321	---	---	9	---					
ZNRF3	84133	broad.mit.edu	37	22	29445819	29445821	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr22:29445819_29445821delCAG	uc003aeg.3	+	7	1650_1652	c.1650_1652delCAG	c.(1648-1653)gacagc>gac	p.S557del	ZNRF3_uc021wnq.1_In_Frame_Del_p.S457del	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	557						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CAGgcagcgacagcagcagcagc	0.660													---	263	---	---	12	---					
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr22:42610776_42610778delTGC	uc003bcj.1	-	0	668_670	c.534_536delGCA	c.(532-537)cagcaa>caa	p.178_179QQ>Q	TCF20_uc003bck.1_In_Frame_Del_p.178_179QQ>Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	178	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571													---	311	---	---	8	---					
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chrX:21627678_21627680delGAG	uc004czx.2	+	19	3115_3117	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_uc004czw.3_In_Frame_Del_p.E886del|CNKSR2_uc011mjn.2_In_Frame_Del_p.E837del|CNKSR2_uc011mjo.2_In_Frame_Del_p.E856del|CNKSR2_uc004czy.3_In_Frame_Del_p.E478del	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	886	Poly-Glu.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517													---	63	---	---	7	---					
