Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FRG1B	0	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T														p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000													13	340					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66036155	66036155	+	Splice_Site	SNP	G	G	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:66036155G>T	ENST00000349533.6	+	4	225		c.e4-1		LEPR_ENST00000462765.1_Splice_Site|LEPR_ENST00000406510.3_Splice_Site|LEPR_ENST00000371058.1_Splice_Site|LEPR_ENST00000371059.3_Splice_Site|LEPR_ENST00000371060.3_Splice_Site|LEPR_ENST00000344610.8_Splice_Site	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor						energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATCCTAACAGAATTTATTTA	0.299000													5	156					0.184627	0.186306	1	1	0
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	G	A	rs2781608	by1000genomes	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:17272075G>A	ENST00000375541.5	+	15	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	704					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.A704T(11)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657000													6	184					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060380	111060380	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:111060380G>A	ENST00000369771.2	-	1	1417	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	344						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.R344C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTCACCAGGCGGATGATCCTC	0.577000													16	1067					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													6	163					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468	by1000genomes	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413000													7	257					0	0	1	0	0
SDE2	163859	broad.mit.edu	37	1	226180632	226180632	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:226180632G>C	ENST00000272091.7	-	3	328	c.310C>G	c.(310-312)Ctc>Gtc	p.L104V	SDE2_ENST00000366817.1_Intron	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		CTTCCACTGAGATCCCGACAA	0.433000													5	238					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138387	126138387	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:126138387G>A	ENST00000299308.3	+	9	2376	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E302K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	790						integral to membrane		p.E790K(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGTCAAATTCGAACCAAGTAG	0.423000													13	319					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38146147	38146147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:38146147C>T	ENST00000378505.2	-	15	2281	c.2105G>A	c.(2104-2106)tGg>tAg	p.W702*	RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	691	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cctcttcttccattcttcctt	0.542000													4	67					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73624802	73624802	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:73624802G>A	ENST00000317905.5	-	17	2689	c.2530C>T	c.(2530-2532)Ccc>Tcc	p.P844S	RECQL5_ENST00000423245.2_Missense_Mutation_p.P817S|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	844					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCAGGGGTGGGCTGGACTTCA	0.652000								Other identified genes with known or suspected DNA repair function					12	447					0	0	1	0	0
LPPR4	0	broad.mit.edu	37	1	99772446	99772446	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:99772446C>T	ENST00000370185.3	+	7	2669	c.2172C>T	c.(2170-2172)cgC>cgT	p.R724R	LPPR4_ENST00000457765.1_Silent_p.R666R|LPPR4_ENST00000370184.1_Silent_p.R566R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		724							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTTCTTCCCGCGACTCCACCC	0.507000													14	263					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31538336	31538336	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr18:31538336C>G	ENST00000261592.5	-	7	1400	c.1103G>C	c.(1102-1104)aGt>aCt	p.S368T	NOL4_ENST00000535384.1_Missense_Mutation_p.S83T|NOL4_ENST00000269185.4_Missense_Mutation_p.S254T|NOL4_ENST00000589544.1_Missense_Mutation_p.S368T|NOL4_ENST00000538587.1_Missense_Mutation_p.S294T|NOL4_ENST00000535475.1_Missense_Mutation_p.S213T	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	368						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCGGTCTACACTCTCATTTTT	0.443000													25	848					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189927907	189927907	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:189927907T>A	ENST00000374866.3	-	27	2134	c.1860A>T	c.(1858-1860)aaA>aaT	p.K620N		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	620					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CACTGCTACCTTTGGGGCCTG	0.502000													26	977					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111870079	111870079	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:111870079C>T	ENST00000375741.2	+	6	835	c.585C>T	c.(583-585)ttC>ttT	p.F195F	ARHGEF7_ENST00000375737.5_Silent_p.F92F|ARHGEF7_ENST00000317133.5_Silent_p.F174F|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000375739.2_Silent_p.F145F|ARHGEF7_ENST00000426073.2_Silent_p.F17F|ARHGEF7_ENST00000218789.5_Silent_p.F17F|ARHGEF7_ENST00000370623.3_Silent_p.F102F|ARHGEF7_ENST00000375723.1_Silent_p.F17F|ARHGEF7_ENST00000375736.4_Silent_p.F17F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	195	SH3.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGTTTAACTTCCAGCAGACCA	0.478000													16	571					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99941732	99941732	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:99941732T>C	ENST00000455616.1	-	13	1577	c.1231A>G	c.(1231-1233)Aga>Gga	p.R411G	SYTL4_ENST00000276141.6_Missense_Mutation_p.R411G|SYTL4_ENST00000454200.2_Missense_Mutation_p.R413G|SYTL4_ENST00000263033.5_Missense_Mutation_p.R411G|SYTL4_ENST00000372989.1_Missense_Mutation_p.R411G|SYTL4_ENST00000372981.1_3'UTR			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	411	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGGTTTTTCTTTTTCCTTGG	0.443000													3	90					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110984838	110984838	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:110984838C>T	ENST00000524391.1	-	3	1672	c.640G>A	c.(640-642)Gtc>Atc	p.V214I	KCNV1_ENST00000297404.1_Missense_Mutation_p.V214I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	214						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.V214I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATGGAGATGACGCCAAAGATA	0.517000													10	350					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154920764	154920764	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:154920764C>T	ENST00000368463.3	-	6	559	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R8Q|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R134Q|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000368460.3_Missense_Mutation_p.R163Q	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	163	Poly-Arg.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCCGGCCCCGCCGTCTCCG	0.687000													6	100					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34976561	34976561	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:34976561C>T	ENST00000242315.3	+	5	755	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R225C	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	225							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GGACTTTCTGCGTTACCGCCA	0.647000													24	411					0	0	1	0	0
GLUD1P2	0	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													6	148					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195410689	195410689	+	RNA	SNP	C	C	T	rs6583275	by1000genomes	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886																											CTTTGAGGTGCACTGGAGGAA	0.567000													23	96					0	0	1	0	0
TAGLN2	8407	broad.mit.edu	37	1	159888604	159888604	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:159888604G>A	ENST00000368097.4	-	5	896	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	TAGLN2_ENST00000320307.4_Missense_Mutation_p.R196C|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Missense_Mutation_p.R217C	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	196					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGATCTGGCGTGGCATCCCG	0.552000													21	869					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								12	308					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35850606	35850606	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:35850606G>A	ENST00000327809.4	+	2	1015	c.814G>A	c.(814-816)Gac>Aac	p.D272N	FFAR3_ENST00000594310.1_Missense_Mutation_p.D272N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	272						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTCCTGTGTCGACCCCTTTGT	0.592000													21	1537					0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15495398	15495398	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:15495398C>A	ENST00000383788.5	-	16	1361	c.1236G>T	c.(1234-1236)gaG>gaT	p.E412D	COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000383786.5_Missense_Mutation_p.E378D|COLQ_ENST00000383781.4_Missense_Mutation_p.E402D|COLQ_ENST00000435459.2_Missense_Mutation_p.E402D|COLQ_ENST00000603808.1_Missense_Mutation_p.E413D|COLQ_ENST00000383787.2_Missense_Mutation_p.E403D	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	412					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CCTCCACACCCTCATGCCGGT	0.587000													4	156					0.00909568	0.00943571	1	1	0
LINC00969	0	broad.mit.edu	37	3	195410687	195410687	+	RNA	SNP	T	T	A	rs6583274	by1000genomes	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884																											CCCTTTGAGGTGCACTGGAGG	0.567000													23	90					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr4:146059041A>G	ENST00000454497.2	-	21	2828	c.2691T>C	c.(2689-2691)caT>caC	p.H897H	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.H962H	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	961							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478000													12	800					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3670268	3670268	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:3670268A>G	ENST00000344754.4	-	19	4975	c.4976T>C	c.(4975-4977)cTg>cCg	p.L1659P	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1659P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1659					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCAGGCCCCCAGGCCCAACAG	0.652000													3	59					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766675	77766675	+	Silent	SNP	A	A	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:77766675A>G	ENST00000521891.2	+	10	7966	c.7518A>G	c.(7516-7518)gaA>gaG	p.E2506E	ZFHX4_ENST00000455469.2_Silent_p.E2461E|ZFHX4_ENST00000050961.6_Silent_p.E2461E|ZFHX4_ENST00000518282.1_Silent_p.E2480E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2461						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAACTCTGGAACTCTGGCAGG	0.478000										HNSCC(33;0.089)			23	860					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236957825	236957825	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:236957825G>A	ENST00000409538.1	+	15	3146	c.2650G>A	c.(2650-2652)Gag>Aag	p.E884K	AGAP1_ENST00000336665.5_Missense_Mutation_p.E619K|AGAP1_ENST00000304032.7_Missense_Mutation_p.E672K|AGAP1_ENST00000428334.2_Missense_Mutation_p.E511K			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	672					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTGGCCAGTCGAGCTCATCAA	0.582000													11	694					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31526591	31526591	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:31526591G>A	ENST00000511367.2	-	4	693	c.449C>T	c.(448-450)tCc>tTc	p.S150F	DROSHA_ENST00000344624.3_Missense_Mutation_p.S150F|DROSHA_ENST00000442743.1_Missense_Mutation_p.S150F|DROSHA_ENST00000513349.1_Missense_Mutation_p.S150F	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	150	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ATGAGGCATGGAGGGAGGGGG	0.572000													8	182					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47296667	47296667	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:47296667C>T	ENST00000342922.4	+	3	973	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	MADD_ENST00000311027.5_Missense_Mutation_p.R206C|MADD_ENST00000402192.2_Missense_Mutation_p.R206C|MADD_ENST00000406482.1_Missense_Mutation_p.R206C|MADD_ENST00000402799.1_Missense_Mutation_p.R206C|MADD_ENST00000395336.3_Missense_Mutation_p.R206C|MADD_ENST00000395344.3_Missense_Mutation_p.R206C|MADD_ENST00000349238.3_Missense_Mutation_p.R206C|MADD_ENST00000407859.3_Missense_Mutation_p.R206C	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	206	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTGTAGTGAGCGCCTTCTGGG	0.522000													13	521					0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44479374	44479374	+	Silent	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr21:44479374G>A	ENST00000398165.3	-	13	1444	c.1185C>T	c.(1183-1185)ggC>ggT	p.G395G	CBS_ENST00000398158.1_Silent_p.G395G|CBS_ENST00000352178.5_Silent_p.G395G|CBS_ENST00000398168.1_Silent_p.G395G|CBS_ENST00000544202.1_Silent_p.G307G|CBS_ENST00000359624.3_Silent_p.G395G	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	395					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CCTTCAGAAAGCCCTTCTGCA	0.677000													17	612					0	0	1	0	0
CHEK2P2	0	broad.mit.edu	37	15	20496770	20496770	+	RNA	SNP	T	T	C	rs3865047	by1000genomes	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:20496770T>C	ENST00000555186.1	+	0	823					NR_038836.1																						TTATAGTGTGTATTTTAATTA	0.353000													24	179					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67187404	67187404	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:67187404G>T	ENST00000269081.4	-	18	2833	c.1924C>A	c.(1924-1926)Cag>Aag	p.Q642K	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	642					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGAATGTGCTGCTTAATAAGG	0.343000													4	128					1	1	1	1	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													11	374					0	0	1	0	0
RPF2	84154	broad.mit.edu	37	6	111346773	111346773	+	Silent	SNP	T	T	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:111346773T>A	ENST00000441448.2	+	10	1001	c.909T>A	c.(907-909)atT>atA	p.I303I		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	303						nucleolus	protein binding	p.I303I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						CAAAAAGAATTAAAAAAAATT	0.368000													6	88					0	0	1	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14205111	14205111	+	Silent	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:14205111G>A	ENST00000360954.2	+	1	712	c.276G>A	c.(274-276)gcG>gcA	p.A92A		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	92					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGTTCCGGGCGCCGCCAGCCA	0.751000													3	39					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													13	723					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								27	297					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021748	5021748	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:5021748C>T	ENST00000382545.3	+	2	2311	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	402					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AACAATTGCCCTGCCCGTACC	0.517000													121	2323					0	0	1	0	0
FAM19A5	25817	broad.mit.edu	37	22	49042501	49042501	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr22:49042501G>A	ENST00000358295.5	+	2	359	c.184G>A	c.(184-186)Gcg>Acg	p.A62T	FAM19A5_ENST00000402357.1_Missense_Mutation_p.A69T|FAM19A5_ENST00000473898.1_Intron	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	69						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CGCCCGCTGTGCGTGTAGAAA	0.706000													6	177					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													7	162					0	0	1	0	0
WASH3P	0	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													18	206					0	0	1	0	0
ZNF195	0	broad.mit.edu	37	11	3380510	3380510	+	Silent	SNP	T	T	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:3380510T>C	ENST00000354599.6	-	4	1616	c.1512A>G	c.(1510-1512)aaA>aaG	p.K504K	ZNF195_ENST00000399602.4_Silent_p.K576K|ZNF195_ENST00000526601.1_Silent_p.K557K|ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000005082.9_Silent_p.K553K|ZNF195_ENST00000528796.1_Intron	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGTTTCTCTCCAG	0.393000													8	361					0	0	1	0	0
PDZD7	79955	broad.mit.edu	37	10	102778797	102778797	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:102778797G>A	ENST00000370215.3	-	8	1331	c.1106C>T	c.(1105-1107)gCc>gTc	p.A369V		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	369						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGTCTGCATGGCTGTGTCCGC	0.741000											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	52					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405435	1405435	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:1405435C>T	ENST00000381312.1	-	3	1190	c.865G>A	c.(865-867)Ggg>Agg	p.G289R		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	289	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.G289R(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TAGCGCAGCCCGGCGCGCAGG	0.771000													5	51					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													4	172					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000													6	205					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	102047562	102047562	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:102047562G>A	ENST00000251127.6	-	3	344	c.263C>T	c.(262-264)gCa>gTa	p.A88V	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.A88V|NALCN_ENST00000376196.3_Missense_Mutation_p.A88V	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	88						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGCATTTTTGCTATCATCTC	0.388000													7	383					0	0	1	0	0
RP11-726G1.1	0	broad.mit.edu	37	12	9713438	9713438	+	RNA	SNP	T	T	C	rs76076453	by1000genomes	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:9713438T>C	ENST00000520314.1	+	0	633																											TTTTAAGACATTGGAGAGAAT	0.353000													7	28					0	0	1	0	0
RPL11	6135	broad.mit.edu	37	1	24022341	24022341	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:24022341C>A	ENST00000374550.3	+	5	495	c.450C>A	c.(448-450)tgC>tgA	p.C150*	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	150					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GGACAGGCTGCATTGGGGCCA	0.517000													3	74					0.115264	0.118466	1	1	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													7	303					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128350393	128350393	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:128350393C>T	ENST00000389524.4	+	17	2070	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	MYO7B_ENST00000409816.2_Missense_Mutation_p.R673W|MYO7B_ENST00000428314.1_Missense_Mutation_p.R673W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	673	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCTGTGCCTGCGGCAGCTGCG	0.672000													5	129					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169098083	169098083	+	Splice_Site	SNP	A	A	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:169098083A>T	ENST00000256935.8	+	5	306	c.224_splice	c.e5-1	p.N76_splice		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	76					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTAAATAGAAATACTGAGAA	0.443000													6	271					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr4:146059006G>A	ENST00000454497.2	-	21	2863	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000													16	922					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28343119	28343119	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:28343119C>A	ENST00000337532.5	-	18	1882	c.1606G>T	c.(1606-1608)Ggt>Tgt	p.G536C	MPP7_ENST00000375719.3_Missense_Mutation_p.G536C|MPP7_ENST00000540098.1_Missense_Mutation_p.G536C|MPP7_ENST00000375732.1_Missense_Mutation_p.G536C	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	536	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AAAAGATGACCATATTGACTT	0.318000													4	71					0.150653	0.153418	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	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).		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|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(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)			9	110					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140637837	140637837	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:140637837G>T	ENST00000460843.1	+	5	865	c.838G>T	c.(838-840)Gtt>Ttt	p.V280F	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.V249F|EHMT1_ENST00000462484.1_Missense_Mutation_p.V280F	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	280					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.V249F(2)|p.V280F(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		cttgccttttgttttAGCAGC	0.358000													12	83					6.94344e-10	7.48274e-10	1	1	0
HERC2	8924	broad.mit.edu	37	15	28413594	28413594	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:28413594C>T	ENST00000261609.7	-	67	10480	c.10372G>A	c.(10372-10374)Gaa>Aaa	p.E3458K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3458					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGTCTGTCTTCGATATCAACA	0.502000													15	976					0	0	1	0	0
GPR126	0	broad.mit.edu	37	6	142691373	142691373	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:142691373T>C	ENST00000230173.6	+	4	988	c.512T>C	c.(511-513)gTt>gCt	p.V171A	GPR126_ENST00000367608.2_Missense_Mutation_p.V171A|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367609.3_Missense_Mutation_p.V171A|GPR126_ENST00000296932.8_Missense_Mutation_p.V171A	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	171	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CAGGTATCTGTTGCAAAAAGC	0.423000													4	159					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56825369	56825369	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:56825369C>T	ENST00000229201.4	-	8	858	c.704G>A	c.(703-705)gGa>gAa	p.G235E	TIMELESS_ENST00000554616.1_Missense_Mutation_p.G236E|TIMELESS_ENST00000553532.1_Missense_Mutation_p.G236E	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	236					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTGCCCTACTCCCGCCAGCTG	0.547000													18	356					0	0	1	0	0
LCN1	3933	broad.mit.edu	37	9	138413373	138413373	+	Silent	SNP	T	T	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:138413373T>C	ENST00000263598.2	+	1	90	c.30T>C	c.(28-30)ctT>ctC	p.L10L	LCN1_ENST00000371781.3_Silent_p.L10L	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	10					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	p.L10L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		CCGTCAGCCTTGGCCTCATTG	0.667000													5	241					0	0	1	0	0
WASH2P	0	broad.mit.edu	37	2	114354996	114354996	+	RNA	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:114354996G>A	ENST00000538033.2	+	0	2001																											CTTGGACACAGTAAGCTTCCC	0.652000													7	34					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543773	46543773	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:46543773T>A	ENST00000242848.4	-	14	3254	c.2906A>T	c.(2905-2907)aAa>aTa	p.K969I	ZC3H13_ENST00000282007.3_Missense_Mutation_p.K969I|ZC3H13_ENST00000378921.2_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	969	Lys-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTCTTTCTTTTTCTTAATTGG	0.363000													10	400					0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54987327	54987327	+	Nonsense_Mutation	SNP	G	G	A	rs147665375		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:54987327G>A	ENST00000375006.3	-	3	317	c.247C>T	c.(247-249)Cga>Tga	p.R83*	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Nonsense_Mutation_p.R18*	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	83	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						ACTGCCTCTCGTCGATACTGG	0.468000													6	176					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													12	260					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124399679	124399679	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:124399679G>A	ENST00000368909.3	+	52	6785	c.6679G>A	c.(6679-6681)Gac>Aac	p.D2227N	DMBT1_ENST00000368956.2_Missense_Mutation_p.D1599N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1599N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000338354.3_Missense_Mutation_p.D2227N|DMBT1_ENST00000359586.6_Missense_Mutation_p.D947N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2217N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2227	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCTGGGTCGACACCATGTA	0.478000													17	813					0	0	1	0	0
PCDHA10	0	broad.mit.edu	37	5	140237387	140237387	+	Missense_Mutation	SNP	T	T	G	rs251364	by1000genomes	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:140237387T>G	ENST00000307360.5	+	1	1754	c.1754T>G	c.(1753-1755)gTt>gGt	p.V585G	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTCGGTGGTTGCGGGTCAC	0.662000													9	317					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													13	77					0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1688587	1688588	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:1688587_1688588insC	ENST00000344463.4	-	6	958_959	c.737_738insG	c.(736-738)ggcfs	p.G246fs	NADK_ENST00000378625.1_Frame_Shift_Ins_p.G246fs|NADK_ENST00000342348.5_Intron|NADK_ENST00000492768.1_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000341426.5_Intron			O95544	NADK_HUMAN	NAD kinase	131					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CTCCATGTGCACCCCAGGCCCC	0.634													10	159	---	---	---	---					
NADK	65220	broad.mit.edu	37	1	1688592	1688594	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:1688592_1688594delAGG	ENST00000344463.4	-	6	952_954	c.731_733delCCT	c.(730-735)ggg>g	p.AW244del	NADK_ENST00000378625.1_In_Frame_Del_p.AW244del|NADK_ENST00000342348.5_Intron|NADK_ENST00000492768.1_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000341426.5_Intron			O95544	NADK_HUMAN	NAD kinase	131					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGTGCACCCCAGGCCCCCTTCCC	0.626													12	198	---	---	---	---					
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:6536011_6536013delCTC	ENST00000377748.1	-	4	855_857	c.358_360delGAG	c.(358-360)del	p.E120del	PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	881	---	---	---	---					
TAS1R1	0	broad.mit.edu	37	1	6638843	6638845	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:6638843_6638845delGCT	ENST00000333172.6	+	6	1918_1920	c.1725_1727delGCT	c.(1723-1728)acg>ac	p.TL575del	TAS1R1_ENST00000328191.4_In_Frame_Del_p.RC464del|TAS1R1_ENST00000351136.3_In_Frame_Del_p.TL321del	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	575					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CAGCTAACACgctgctgctgctg	0.611													10	338	---	---	---	---					
CLSTN1	22883	broad.mit.edu	37	1	9790640	9790642	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:9790640_9790642delCCT	ENST00000377298.4	-	19	3662_3664	c.2870_2872delAGG	c.(2869-2874)ggg>g	p.EG957del	CLSTN1_ENST00000361311.4_In_Frame_Del_p.EG947del|CLSTN1_ENST00000377288.3_In_Frame_Del_p.EG938del|CLSTN1_ENST00000477264.1_5'UTR	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	957	Glu-rich (highly acidic).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGCTCCCCCTCCTCCTCCTC	0.645													10	752	---	---	---	---					
HNRNPCL1	343069	broad.mit.edu	37	1	12907739	12907741	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:12907739_12907741delGGA	ENST00000317869.6	-	2	627_629	c.402_404delTCC	c.(400-405)ccc>cc	p.PP134del		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CAGAGCAATGGGAGGAGGAGGAG	0.502													7	801	---	---	---	---					
ATP13A2	23400	broad.mit.edu	37	1	17313000	17313002	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:17313000_17313002delCAG	ENST00000452699.1	-	28	3535_3537	c.3346_3348delCTG	c.(3346-3348)del	p.L1116del	ATP13A2_ENST00000326735.8_In_Frame_Del_p.L1121del|ATP13A2_ENST00000341676.5_Intron|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	1121					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGACCAGACCCAGCAGCAGCAGC	0.675													7	511	---	---	---	---					
LDLRAP1	26119	broad.mit.edu	37	1	25889632	25889632	+	Frame_Shift_Del	DEL	T	T	-	rs6687605	byFrequency	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:25889632delT	ENST00000374338.4	+	6	723	c.604delT	c.(604-606)ccfs	p.S202fs	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	202			S -> H (in ARH; Lebanon; requires 2 nucleotide substitutions).|S -> P (in dbSNP:rs6687605).		amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCACCCCCTCCTTGAAGAG	0.637													8	556	---	---	---	---					
RPS6KA1	6195	broad.mit.edu	37	1	26885311	26885311	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:26885311delC	ENST00000374168.2	+	14	1252	c.1098delC	c.(1096-1098)atfs	p.I366fs	RPS6KA1_ENST00000531382.1_Frame_Shift_Del_p.I375fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Del_p.I274fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Del_p.I274fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Del_p.I355fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Del_p.I350fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	366	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCCCAGGCATCCCCCCCAGCG	0.672													8	955	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-	rs140055856		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:27105931delG	ENST00000324856.7	+	20	5913	c.5542delG	c.(5542-5544)ggfs	p.G1849fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.G1466fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.G177fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.G1632fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1849					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCGGATTGGTGGGGGGGACAC	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								9	995	---	---	---	---					
WASF2	10163	broad.mit.edu	37	1	27736326	27736328	+	In_Frame_Del	DEL	GGA	GGA	-	rs150974534		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:27736326_27736328delGGA	ENST00000430629.2	-	8	1412_1414	c.1197_1199delTCC	c.(1195-1200)ccg>cc	p.PP399del	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	399	Poly-Pro.				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		AGGGGGCCCCggaggaggaggag	0.640													9	397	---	---	---	---					
AHDC1	27245	broad.mit.edu	37	1	27875353	27875355	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:27875353_27875355delAGG	ENST00000374011.2	-	6	4240_4242	c.3272_3274delCCT	c.(3271-3276)ttc>t	p.SF1091del	AHDC1_ENST00000247087.5_In_Frame_Del_p.SF1091del|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1091							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGGGCTGGAaggaggaggagga	0.665													7	269	---	---	---	---					
XKR8	55113	broad.mit.edu	37	1	28293145	28293147	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:28293145_28293147delCTG	ENST00000373884.5	+	3	1230_1232	c.622_624delCTG	c.(622-624)del	p.L211del	XKR8_ENST00000481387.1_3'UTR	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	211						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CCTGTGGAACCTGCTGCTGCTGT	0.665													8	1141	---	---	---	---					
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:38078467_38078469delTGC	ENST00000356545.2	-	8	1537_1539	c.750_752delGCA	c.(748-753)caa>ca	p.QQ250del	RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621													20	1254	---	---	---	---					
PABPC4	8761	broad.mit.edu	37	1	40028016	40028016	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:40028016delG	ENST00000372857.3	-	13	2485	c.1693delC	c.(1693-1695)agfs	p.Q565fs	PABPC4_ENST00000372856.3_Frame_Shift_Del_p.Q552fs|PABPC4_ENST00000372858.3_Frame_Shift_Del_p.Q581fs|PABPC4_ENST00000372862.3_Frame_Shift_Del_p.Q536fs	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	565	PABC.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCTGTTCCTGGGGGGGTGCT	0.602													11	882	---	---	---	---					
GUCA2B	2981	broad.mit.edu	37	1	42619173	42619175	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:42619173_42619175delCTG	ENST00000372581.1	+	1	82_84	c.52_54delCTG	c.(52-54)del	p.L21del		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	21					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGTGGTCCTCCTGCTGCTGCTGC	0.650													7	380	---	---	---	---					
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cag>ca	p.QR1173del	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1173					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631													11	857	---	---	---	---					
RP5-1198O20.4	0	broad.mit.edu	37	1	44570056	44570058	+	RNA	DEL	CTG	CTG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:44570056_44570058delCTG	ENST00000434244.1	+	0	2053_2055																											TCCCAGCCGTCTGCTGCTGCTGC	0.576													9	558	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65306996	65306997	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:65306996_65306997insT	ENST00000342505.4	-	19	2828_2829	c.2580_2581insA	c.(2578-2583)aacagcfs	p.NS860fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	860					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCAGTTGCTGGTTTTTTTTCTG	0.470			Mis		ALL								12	654	---	---	---	---					
ANKRD13C	81573	broad.mit.edu	37	1	70819873	70819873	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:70819873delG	ENST00000370944.4	-	1	532	c.219delC	c.(217-219)ccfs	p.P73fs	ANKRD13C_ENST00000262346.6_Frame_Shift_Del_p.P73fs	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	73					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CCGGGGCGCCGGGGGGATTGG	0.637													7	1707	---	---	---	---					
TNNI3K	51086	broad.mit.edu	37	1	74957824	74957826	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:74957824_74957826delCTT	ENST00000370891.2	+	25	2544_2546	c.2528_2530delCTT	c.(2527-2532)cct>c	p.PS843del	FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCTCTCTCACCTTCTTCTTCTTC	0.473													13	1271	---	---	---	---					
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccg>cc	p.PQ37del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	37					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.700													7	362	---	---	---	---					
CLCA4	22802	broad.mit.edu	37	1	87029432	87029432	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:87029432delA	ENST00000370563.3	+	4	579	c.537delA	c.(535-537)tcfs	p.S179fs	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	179						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GTGCTAAGTCAAAAAAAATCG	0.403													9	287	---	---	---	---					
RP11-343N15.1	0	broad.mit.edu	37	1	121137698	121137699	+	RNA	INS	-	-	TT	rs57730437		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:121137698_121137699insTT	ENST00000437515.1	-	0	329																											CTACTTACATCTTTTTGTCTTT	0.441													16	201	---	---	---	---					
MCL1	4170	broad.mit.edu	37	1	150551492	150551494	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:150551492_150551494delTCC	ENST00000369026.2	-	1	572_574	c.513_515delGGA	c.(511-516)gac>ga	p.ED171del	MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	171	PEST-like.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-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)			GTACAACTCGTCCTCCTCCTCCT	0.635													15	712	---	---	---	---					
PSMB4	5692	broad.mit.edu	37	1	151374040	151374040	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:151374040delA	ENST00000290541.6	+	6	770	c.716delA	c.(715-717)gafs	p.E239fs		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	239					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTGTCACCGAAAAAGGTGTT	0.443													11	1167	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152084208	152084210	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:152084208_152084210delCTC	ENST00000368804.1	-	2	1482_1484	c.1483_1485delGAG	c.(1483-1485)del	p.E495del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	495	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCGCGCCTCTCCTCCTCCTCG	0.670													9	1050	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154842331	154842333	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:154842331_154842333delTGC	ENST00000271915.3	-	1	423_425	c.108_110delGCA	c.(106-111)caa>ca	p.QQ40del		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	40	Poly-Gln.					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)			ctgctgctgttgctgctgctgct	0.670													7	118	---	---	---	---					
FLAD1	80308	broad.mit.edu	37	1	154962050	154962050	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:154962050delA	ENST00000368433.1	+	3	1475	c.1132delA	c.(1132-1134)aafs	p.K379fs	FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000368432.1_Frame_Shift_Del_p.K282fs|FLAD1_ENST00000292180.3_Frame_Shift_Del_p.K379fs|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000315144.10_Frame_Shift_Del_p.K282fs			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	379					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	p.K378E(3)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTCTTTGGGGAAAAAGGTGGC	0.567													7	894	---	---	---	---					
BCAN	63827	broad.mit.edu	37	1	156626160	156626160	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:156626160delG	ENST00000329117.4	+	9	2365	c.2029delG	c.(2029-2031)ggfs	p.G678fs	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	678	EGF-like.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGGCTATGGGGGGGACCT	0.622													8	1236	---	---	---	---					
NES	10763	broad.mit.edu	37	1	156642804	156642804	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:156642804delG	ENST00000368223.3	-	4	1308	c.1176delC	c.(1174-1176)ccfs	p.P392fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	392	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGAGGTGTGGGGGGGATGG	0.597													14	1653	---	---	---	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)del	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611													17	468	---	---	---	---					
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:165177332_165177334delTGC	ENST00000342310.3	-	7	1165_1167	c.783_785delGCA	c.(781-786)caa>ca	p.QQ261del	LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	261	Gln-rich.|Poly-Gln.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567													11	325	---	---	---	---					
POU2F1	5451	broad.mit.edu	37	1	167385016	167385018	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:167385016_167385018delCCA	ENST00000367862.5	+	16	2472_2474	c.2237_2239delCCA	c.(2236-2241)tcc>t	p.ST746del	POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000367865.1_3'UTR	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	734					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGGGCTGCGTCCACCACCACCAC	0.601													15	1677	---	---	---	---					
PRG4	10216	broad.mit.edu	37	1	186276092	186276094	+	In_Frame_Del	DEL	CCA	CCA	-	rs112431404		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:186276092_186276094delCCA	ENST00000445192.2	+	7	1286_1288	c.1241_1243delCCA	c.(1240-1245)ccc>c	p.PT414del	PRG4_ENST00000367485.4_In_Frame_Del_p.PT321del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.PT373del|PRG4_ENST00000367486.3_In_Frame_Del_p.PT371del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	414	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GAGCCTGCACCCACCACCACCAA	0.660													7	689	---	---	---	---					
GPR25	2848	broad.mit.edu	37	1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttg>t	p.LL208del		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	208	Poly-Leu.					integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724													9	193	---	---	---	---					
SYT2	127833	broad.mit.edu	37	1	202568423	202568425	+	In_Frame_Del	DEL	TCT	TCT	-	rs151217119		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:202568423_202568425delTCT	ENST00000367267.1	-	8	1166_1168	c.974_976delAGA	c.(973-978)aca>a	p.KT325del	SYT2_ENST00000367268.4_In_Frame_Del_p.KT325del	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	325	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TTCACGGTTGTCTTCTTCTTCTT	0.547													7	960	---	---	---	---					
SYT2	127833	broad.mit.edu	37	1	202573647	202573649	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:202573647_202573649delTTC	ENST00000367267.1	-	3	471_473	c.279_281delGAA	c.(277-282)aac>aa	p.KN93del	RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	93					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	p.N94S(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	ctccttcttgttcttcttcttct	0.532													10	743	---	---	---	---					
REN	5972	broad.mit.edu	37	1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-	rs142739309		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:204135375_204135377delAGC	ENST00000367195.2	-	1	88_90	c.45_47delGCT	c.(43-48)ctc>ct	p.LL15del	REN_ENST00000272190.8_In_Frame_Del_p.LL15del			P00797	RENI_HUMAN	renin	15					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581													7	744	---	---	---	---					
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)caa>ca	p.QQ954del	INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	954	Gln-rich.				snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443													13	1106	---	---	---	---					
HEATR1	55127	broad.mit.edu	37	1	236719142	236719142	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:236719142delA	ENST00000366582.3	-	39	5726	c.5612delT	c.(5611-5613)tcfs	p.F1871fs	HEATR1_ENST00000366581.2_Frame_Shift_Del_p.F1790fs	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1871					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGCTTCCAGGAAAAAGGCGGT	0.493													7	632	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agt>ag	p.SS117del	ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													21	868	---	---	---	---					
AC009499.1	0	broad.mit.edu	37	2	34065548	34065549	+	RNA	INS	-	-	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:34065548_34065549insC	ENST00000366209.2	+	0	68																											AGGACAGGACTCCCTGCTCCTT	0.500													8	740	---	---	---	---					
RMDN2	151393	broad.mit.edu	37	2	38178783	38178783	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:38178783delT	ENST00000407257.1	+	2	572	c.425delT	c.(424-426)atfs	p.I142fs	RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs					regulator of microtubule dynamics 2																		AAGAGTGCCATTTTTTTTGAT	0.333													12	292	---	---	---	---					
SRBD1	55133	broad.mit.edu	37	2	45826821	45826821	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:45826821delT	ENST00000263736.4	-	4	477	c.415delA	c.(415-417)ccfs	p.T139fs		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	139					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GCTTTGCTGGTTTCTTCTTCA	0.453													34	1146	---	---	---	---					
RAB11FIP5	26056	broad.mit.edu	37	2	73315337	73315339	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:73315337_73315339delTGG	ENST00000258098.6	-	3	1647_1649	c.1407_1409delCCA	c.(1405-1410)caa>ca	p.HQ469del	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	469					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ACTTAGGCCTTGGTGGTGGTGGT	0.635													9	1317	---	---	---	---					
MOGS	7841	broad.mit.edu	37	2	74690035	74690035	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:74690035delG	ENST00000233616.4	-	4	1043	c.881delC	c.(880-882)ctfs	p.P294fs	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000452063.2_Frame_Shift_Del_p.P188fs	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	294					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GTAGCGTTCAGGGGGGGCCCC	0.587													9	1669	---	---	---	---					
IGKV1D-8	0	broad.mit.edu	37	2	90259860	90259861	+	RNA	INS	-	-	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:90259860_90259861insC	ENST00000471857.1	+	0	236																											AATTTACTCAGCCAATGTGCTC	0.480													8	1067	---	---	---	---					
SEMA4C	54910	broad.mit.edu	37	2	97526819	97526821	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:97526819_97526821delCAG	ENST00000305476.5	-	15	2176_2178	c.2044_2046delCTG	c.(2044-2046)del	p.L682del		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	682					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						ATGACAGCACCAGCAGCAGCAGC	0.690													7	404	---	---	---	---					
AFF3	3899	broad.mit.edu	37	2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:100218011_100218013delGCT	ENST00000317233.4	-	13	1490_1492	c.1255_1257delAGC	c.(1255-1257)del	p.S419del	AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000409236.1_In_Frame_Del_p.S419del	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	419	Poly-Ser.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685													8	101	---	---	---	---					
SLC9A2	6549	broad.mit.edu	37	2	103324746	103324746	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:103324746delC	ENST00000233969.2	+	12	2379	c.2237delC	c.(2236-2238)acfs	p.T746fs		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	746						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ATGCCCAGCACCCCCCCAACA	0.527													8	1447	---	---	---	---					
CLASP1	23332	broad.mit.edu	37	2	122125358	122125358	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:122125358delC	ENST00000263710.4	-	35	4081	c.3692delG	c.(3691-3693)gtfs	p.G1231fs	CLASP1_ENST00000409078.3_Frame_Shift_Del_p.G1164fs|CLASP1_ENST00000541377.1_Frame_Shift_Del_p.G1170fs|CLASP1_ENST00000397587.3_Frame_Shift_Del_p.G1171fs|CLASP1_ENST00000541859.1_Frame_Shift_Del_p.G948fs|CLASP1_ENST00000545861.1_Frame_Shift_Del_p.G938fs|CLASP1_ENST00000455322.2_Frame_Shift_Del_p.G1187fs	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1231					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TACTTCACTACCCCCCCGGCC	0.637													7	522	---	---	---	---					
WDR33	55339	broad.mit.edu	37	2	128471200	128471200	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:128471200delG	ENST00000322313.4	-	18	3423	c.3265delC	c.(3265-3267)ggfs	p.R1089fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1089					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCGGGATCCCGGGGGAAACGT	0.617													9	1678	---	---	---	---					
DNAH7	56171	broad.mit.edu	37	2	196788374	196788374	+	Frame_Shift_Del	DEL	T	T	-	rs140194798		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:196788374delT	ENST00000312428.6	-	23	3870	c.3770delA	c.(3769-3771)atfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCGCTAATATTTTTTTTTAC	0.418													16	357	---	---	---	---					
RAPH1	65059	broad.mit.edu	37	2	204305088	204305090	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:204305088_204305090delGGT	ENST00000319170.5	-	14	3122_3124	c.2823_2825delACC	c.(2821-2826)cct>cc	p.PP943del	RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_In_Frame_Del_p.PP995del	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	943					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						tgtgggtggaggtggtggtggtg	0.606													7	437	---	---	---	---					
ALPI	248	broad.mit.edu	37	2	233320926	233320928	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:233320926_233320928delTGC	ENST00000295463.3	+	1	94_96	c.17_19delTGC	c.(16-21)gtg>g	p.VL6del		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	6					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGGCCCTGGGTGCTGCTGCTGCT	0.660													8	402	---	---	---	---					
NGEF	25791	broad.mit.edu	37	2	233785144	233785146	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:233785144_233785146delCTC	ENST00000264051.3	-	5	954_956	c.676_678delGAG	c.(676-678)del	p.E226del	NGEF_ENST00000373552.4_In_Frame_Del_p.E134del|NGEF_ENST00000409079.1_In_Frame_Del_p.E134del	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	226	Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGCTGGCCGGctcctcctcctcc	0.586													7	556	---	---	---	---					
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:33602361delT	ENST00000399362.4	-	28	3243	c.2890delA	c.(2890-2892)tgfs	p.M964fs	CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	966										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343													14	575	---	---	---	---					
USP4	7375	broad.mit.edu	37	3	49321969	49321971	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:49321969_49321971delTCT	ENST00000351842.4	-	17	2185_2187	c.2177_2179delAGA	c.(2176-2181)acc>a	p.KT726del	USP4_ENST00000265560.4_In_Frame_Del_p.KT773del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	773					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCACTGTGGTCTTCTTCTTCTT	0.532													7	834	---	---	---	---					
STAB1	23166	broad.mit.edu	37	3	52547907	52547908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:52547907_52547908insC	ENST00000321725.6	+	32	3433_3434	c.3357_3358insC	c.(3355-3360)ctccccfs	p.LP1119fs		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1119					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R1122fs*37(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGGTCTTACTGCCCCCCCGAGG	0.624													10	2002	---	---	---	---					
ITIH4	3700	broad.mit.edu	37	3	52847474	52847474	+	Frame_Shift_Del	DEL	G	G	-	rs140372968	byFrequency	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:52847474delG	ENST00000266041.4	-	24	2852	c.2756delC	c.(2755-2757)cgfs	p.P919fs	ITIH4_ENST00000346281.5_Frame_Shift_Del_p.P903fs|ITIH4_ENST00000485816.1_Frame_Shift_Del_p.P924fs|ITIH4_ENST00000406595.1_Frame_Shift_Del_p.P889fs	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	919					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTCCACTCCCGGGGGCCCCTC	0.582													10	991	---	---	---	---					
LINC00698	0	broad.mit.edu	37	3	63083094	63083096	+	RNA	DEL	CTG	CTG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:63083094_63083096delCTG	ENST00000468072.1	+	0	125					NR_027104.1																						TCCGAGCCGTCTGCTGCTGCTGC	0.562													7	980	---	---	---	---					
FOXP1	27086	broad.mit.edu	37	3	71247357	71247359	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:71247357_71247359delTGC	ENST00000318789.4	-	6	699_701	c.174_176delGCA	c.(172-177)caa>ca	p.QQ58del	FOXP1_ENST00000468577.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000484350.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000318779.3_In_Frame_Del_p.QQ58del|FOXP1_ENST00000493089.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000498215.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000475937.1_In_Frame_Del_p.QQ58del	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	58	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CAGTACCTGTTGCTGCTGCTGCT	0.586			T	PAX5	ALL								19	850	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													17	1515	---	---	---	---					
TRMT10C	54931	broad.mit.edu	37	3	101284009	101284009	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:101284009delA	ENST00000309922.6	+	2	538	c.384delA	c.(382-384)gcfs	p.A128fs		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		CTAACACAGCaaaaaaaaaat	0.343													15	190	---	---	---	---					
CCDC80	151887	broad.mit.edu	37	3	112357576	112357576	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:112357576delA	ENST00000206423.3	-	2	2130	c.1177delT	c.(1177-1179)ccfs	p.S393fs	CCDC80_ENST00000439685.2_Frame_Shift_Del_p.S393fs	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	393	Thr-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGCCTGTGGGAGGGTGAGGGG	0.597													7	506	---	---	---	---					
CASR	846	broad.mit.edu	37	3	122003626	122003628	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:122003626_122003628delAGC	ENST00000498619.1	+	7	3293_3295	c.2855_2857delAGC	c.(2854-2859)gag>g	p.EQ952del	CASR_ENST00000490131.1_In_Frame_Del_p.EQ942del|CASR_ENST00000296154.5_In_Frame_Del_p.EQ942del	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	942					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACCCAGCAAGAGCAGCAGCAGCA	0.621													8	559	---	---	---	---					
FXR1	0	broad.mit.edu	37	3	180666228	180666228	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:180666228delA	ENST00000357559.4	+	5	748	c.364delA	c.(364-366)aafs	p.K123fs	FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs|FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	123					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.N124fs*14(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAACTGTCAAAAAAAATAC	0.333													13	286	---	---	---	---					
TNK2	10188	broad.mit.edu	37	3	195595229	195595229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:195595229delG	ENST00000333602.6	-	12	2512	c.1895delC	c.(1894-1896)cgfs	p.P633fs	TNK2_ENST00000428187.1_Frame_Shift_Del_p.P665fs|TNK2_ENST00000392400.1_Frame_Shift_Del_p.P633fs|TNK2_ENST00000381916.2_Frame_Shift_Del_p.P711fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	633	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	ATAGGCGGGCGGGGGGGGCAG	0.726													17	714	---	---	---	---					
SDHAP1	0	broad.mit.edu	37	3	195690462	195690463	+	RNA	INS	-	-	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:195690462_195690463insG	ENST00000427841.1	-	0	2203					NR_003264.2																						catgcgcaacaggggactgtaa	0.366													3	3	---	---	---	---					
PDE6B	5158	broad.mit.edu	37	4	661763	661765	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr4:661763_661765delAGG	ENST00000255622.6	+	21	2514_2516	c.2471_2473delAGG	c.(2470-2475)aag>a	p.KE824del	PDE6B_ENST00000496514.1_In_Frame_Del_p.KE824del|PDE6B_ENST00000429163.2_In_Frame_Del_p.KE545del	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	824					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTGGAGGAGAAGGAGGAGGAGGA	0.562													11	962	---	---	---	---					
TMEM175	84286	broad.mit.edu	37	4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tfs	p.C144fs	TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515													12	1577	---	---	---	---					
WHSC1	7468	broad.mit.edu	37	4	1980558	1980559	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr4:1980558_1980559insC	ENST00000382895.3	+	24	4451_4452	c.4020_4021insC	c.(4018-4023)aaccccfs	p.NP1340fs	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.NP688fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.NP1340fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1340					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGACTGAGAAGCCCCCCCCAGA	0.678			T	IGH@	MM								7	281	---	---	---	---					
EVC	2121	broad.mit.edu	37	4	5809995	5809997	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr4:5809995_5809997delCAG	ENST00000382674.2	+	18	2813_2815	c.2629_2631delCAG	c.(2629-2631)del	p.Q880del	EVC_ENST00000264956.6_In_Frame_Del_p.Q880del			P57679	EVC_HUMAN	Ellis van Creveld syndrome	880					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TCTGCACGCCCAGCAGCAGCAGG	0.591													7	480	---	---	---	---					
LIAS	11019	broad.mit.edu	37	4	39462464	39462464	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr4:39462464delA	ENST00000261434.3	+	2	218	c.100delA	c.(100-102)aafs	p.K36fs	LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN	lipoic acid synthetase	36					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	p.K36fs*31(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	CTTGCCAGATAAAAAAAAGGA	0.393													9	594	---	---	---	---					
PRDM8	56978	broad.mit.edu	37	4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr4:81123250_81123252delCAG	ENST00000339711.4	+	10	1865_1867	c.634_636delCAG	c.(634-636)del	p.Q217del	PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	398	---	---	---	---					
MMRN1	22915	broad.mit.edu	37	4	90844391	90844393	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr4:90844391_90844393delAGC	ENST00000394980.1	+	5	1242_1244	c.923_925delAGC	c.(922-927)gag>g	p.EQ308del	MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del|MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del			Q13201	MMRN1_HUMAN	multimerin 1	308					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GGAGTAGCTGAGCAGCAGCAGCA	0.448													12	1940	---	---	---	---					
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr4:123302211delA	ENST00000296513.2	+	4	422	c.237delA	c.(235-237)ccfs	p.P79fs	ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	79					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTTCCTCCAAAAAAAATAC	0.358													10	281	---	---	---	---					
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacfs	p.KH528fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	528					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653													14	397	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13871038	13871038	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:13871038delT	ENST00000265104.4	-	24	3776	c.3672delA	c.(3670-3672)aafs	p.K1224fs	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1224	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CACTCCGGTATTTTTTGTTAC	0.398									Kartagener syndrome				7	523	---	---	---	---					
ZFR	51663	broad.mit.edu	37	5	32404161	32404161	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:32404161delT	ENST00000265069.8	-	7	1176	c.1074delA	c.(1072-1074)aafs	p.K358fs		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	358					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ATGCAGCTTCTTTTTTTTTAT	0.348													12	516	---	---	---	---					
SLC12A2	6558	broad.mit.edu	37	5	127420207	127420209	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:127420207_127420209delCGG	ENST00000262461.2	+	1	750_752	c.561_563delCGG	c.(559-564)tcc>tc	p.SG187del	SLC12A2_ENST00000343225.4_In_Frame_Del_p.SG187del	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	187					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCTGCACTCCGGCGGCGGCGGC	0.650													9	282	---	---	---	---					
EGR1	1958	broad.mit.edu	37	5	137801684	137801686	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:137801684_137801686delCAG	ENST00000239938.4	+	1	506_508	c.234_236delCAG	c.(232-237)aac>aa	p.NS78del		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	78	Gly/Ser-rich.				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			gcggcagcaacagcagcagcagc	0.724													7	152	---	---	---	---					
PCDHB2	0	broad.mit.edu	37	5	140474590	140474590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:140474590delA	ENST00000194155.4	+	1	364	c.216delA	c.(214-216)ggfs	p.G72fs		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		72	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCCAAAGGAAAAAAAATGC	0.522													8	568	---	---	---	---					
HAVCR2	84868	broad.mit.edu	37	5	156535948	156535950	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:156535948_156535950delAGC	ENST00000307851.4	-	1	775_777	c.45_47delGCT	c.(43-48)cta>ct	p.LL17del	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_In_Frame_Del_p.LL17del	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	17						integral to membrane		p.L18delL(1)|p.L15L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTAAGTAGTAGCAGCAGCAGCA	0.438													8	327	---	---	---	---					
CPLX2	10814	broad.mit.edu	37	5	175306965	175306967	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:175306965_175306967delGAG	ENST00000359546.4	+	5	965_967	c.322_324delGAG	c.(322-324)del	p.E114del	CPLX2_ENST00000515094.1_In_Frame_Del_p.E114del|CPLX2_ENST00000393745.3_In_Frame_Del_p.E114del	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	114					mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTGCGGGGACGAGGAGGAGGAGG	0.645													7	250	---	---	---	---					
BTNL8	79908	broad.mit.edu	37	5	180374632	180374633	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:180374632_180374633delGA	ENST00000231229.4	+	4	1028_1029	c.794_795delGA	c.(793-795)cfs	p.R265fs	BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000511704.1_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	265						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGTGTAAGCGAGAGAGAGAAG	0.495													7	1988	---	---	---	---					
TRIM52	84851	broad.mit.edu	37	5	180687612	180687614	+	In_Frame_Del	DEL	TCC	TCC	-	rs146030758		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:180687612_180687614delTCC	ENST00000327767.4	-	1	505_507	c.201_203delGGA	c.(199-204)gac>ga	p.ED67del	CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	67	Glu-rich.					intracellular	zinc ion binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		CGCTtcctcgtcctcctcctcct	0.581													9	669	---	---	---	---					
CDSN	1041	broad.mit.edu	37	6	31084620	31084622	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:31084620_31084622delCCA	ENST00000376288.2	-	2	796_798	c.770_772delTGG	c.(769-774)gac>g	p.VD257del	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	257	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CCGTGCTGGTCCACCACCACCAC	0.635													10	398	---	---	---	---					
PRRC2A	7916	broad.mit.edu	37	6	31597456	31597457	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:31597456_31597457insC	ENST00000376033.2	+	14	2322_2323	c.2088_2089insC	c.(2086-2091)ccccccfs	p.PP696fs	PRRC2A_ENST00000376007.4_Frame_Shift_Ins_p.PP696fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	696	4 X 57 AA type A repeats.|Poly-Pro.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CACAGGCTCCACCCCCGCCCCC	0.649													9	334	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													8	436	---	---	---	---					
CYP21A1P	0	broad.mit.edu	37	6	31975223	31975224	+	RNA	INS	-	-	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:31975223_31975224insT	ENST00000342991.6	+	0	1346_1347					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTGGGCCGTGGTTTTTTTTGCT	0.614													8	642	---	---	---	---					
DAXX	1616	broad.mit.edu	37	6	33287898	33287900	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:33287898_33287900delTCC	ENST00000374542.5	-	5	1557_1559	c.1353_1355delGGA	c.(1351-1356)gaa>ga	p.EE455del	DAXX_ENST00000414083.2_In_Frame_Del_p.EE380del|DAXX_ENST00000266000.6_In_Frame_Del_p.EE455del|DAXX_ENST00000477162.1_5'UTR	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	455	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.E451E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						ctcttcttcttcctcctcctcct	0.552			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								8	257	---	---	---	---					
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)del	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631													15	322	---	---	---	---					
FOXP4	116113	broad.mit.edu	37	6	41557781	41557781	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:41557781delC	ENST00000373060.1	+	11	1688	c.1230delC	c.(1228-1230)cafs	p.H410fs	FOXP4_ENST00000373063.3_Frame_Shift_Del_p.H397fs|FOXP4_ENST00000307972.4_Frame_Shift_Del_p.H410fs|FOXP4_ENST00000373057.3_Frame_Shift_Del_p.H408fs|FOXP4_ENST00000409208.1_Frame_Shift_Del_p.H398fs	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	410					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|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			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GTCTCGTGCACCCCCCGACCT	0.682													7	460	---	---	---	---					
AARS2	57505	broad.mit.edu	37	6	44269193	44269193	+	Frame_Shift_Del	DEL	C	C	-	rs498512	byFrequency	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:44269193delC	ENST00000244571.4	-	20	2609	c.2607delG	c.(2605-2607)aafs	p.K870fs	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	870					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCTGAGTTTTCTTTGCAGCCT	0.572													7	925	---	---	---	---					
RUNX2	860	broad.mit.edu	37	6	45390467	45390469	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:45390467_45390469delCAG	ENST00000371438.1	+	2	554_556	c.196_198delCAG	c.(196-198)del	p.Q71del	RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcaacagcagcagcagc	0.729													8	188	---	---	---	---					
SLC17A5	26503	broad.mit.edu	37	6	74351590	74351590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:74351590delA	ENST00000355773.5	-	3	617	c.349delT	c.(349-351)atfs	p.Y117fs	SLC17A5_ENST00000393019.3_Frame_Shift_Del_p.Y117fs|SLC17A5_ENST00000481996.1_5'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	117					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGTAGCCATAAAAAAAGGAA	0.423													7	986	---	---	---	---					
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:80751896_80751897insA	ENST00000509894.1	+	22	3377_3378	c.2548_2549insA	c.(2548-2550)aaafs	p.K850fs	TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs			P33981	TTK_HUMAN	TTK protein kinase	851					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302													17	260	---	---	---	---					
FYN	2534	broad.mit.edu	37	6	111983042	111983042	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:111983042delT	ENST00000354650.3	-	14	2120	c.1514delA	c.(1513-1515)agfs	p.K505fs	FYN_ENST00000356013.2_Frame_Shift_Del_p.K450fs|FYN_ENST00000229471.4_Frame_Shift_Del_p.K450fs|FYN_ENST00000368678.4_Frame_Shift_Del_p.K502fs|FYN_ENST00000538466.1_Frame_Shift_Del_p.K502fs|FYN_ENST00000368667.2_Frame_Shift_Del_p.K505fs|FYN_ENST00000229470.5_Frame_Shift_Del_p.K453fs|FYN_ENST00000368682.3_Frame_Shift_Del_p.K502fs	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	505	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTCAGGGTCCTTTTTCCAGCA	0.562													10	1743	---	---	---	---					
LAMA4	3910	broad.mit.edu	37	6	112575076	112575077	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:112575076_112575077delGA	ENST00000368638.4	-	2	546_547	c.276_277delTC	c.(274-279)tccgfs	p.SP92fs	LAMA4_ENST00000431543.2_Intron|RP11-506B6.6_ENST00000585504.1_RNA|LAMA4_ENST00000389463.4_Intron|RP11-506B6.6_ENST00000585611.1_RNA|LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000522006.1_Intron|LAMA4_ENST00000453937.2_Frame_Shift_Del_p.SP92fs|RP11-506B6.6_ENST00000433684.2_RNA|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000590584.1_RNA|RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000590293.1_RNA|RP11-506B6.6_ENST00000588837.1_RNA|LAMA4_ENST00000230538.7_Intron|RP11-506B6.6_ENST00000587816.1_RNA			Q16363	LAMA4_HUMAN	laminin, alpha 4	0	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GAAAGAGGCGGAGAGAGAGAGA	0.584													7	260	---	---	---	---					
PHF14	9678	broad.mit.edu	37	7	11075380	11075381	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:11075380_11075381delAG	ENST00000403050.3	+	8	2021_2022	c.1569_1570delAG	c.(1567-1572)caagfs	p.QE523fs	PHF14_ENST00000445996.2_Frame_Shift_Del_p.QE238fs	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	523							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGTCTTTGCAAGAGAGAGAGAA	0.376													7	827	---	---	---	---					
STK31	56164	broad.mit.edu	37	7	23808740	23808741	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:23808740_23808741insA	ENST00000354639.3	+	12	1938_1939	c.1474_1475insA	c.(1474-1476)aacfs	p.N492fs	STK31_ENST00000355870.3_Frame_Shift_Ins_p.N515fs|STK31_ENST00000428484.1_Frame_Shift_Ins_p.N492fs|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Frame_Shift_Ins_p.N515fs	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	515							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTTAGAAGTGAAACAGACGCT	0.401													7	353	---	---	---	---					
GARS	2617	broad.mit.edu	37	7	30634583	30634585	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:30634583_30634585delCTG	ENST00000389266.3	+	1	287_289	c.46_48delCTG	c.(46-48)del	p.L20del		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	20					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCGCGCCGCTCTGCTGCTGCTGC	0.749													9	175	---	---	---	---					
VKORC1L1	154807	broad.mit.edu	37	7	65419353	65419354	+	In_Frame_Ins	INS	-	-	TTA	rs71982071		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:65419353_65419354insTTA	ENST00000434382.2	+	2	490_491	c.487_488insTTA	c.(487-489)tat>TTAtat	p.162_163insL	VKORC1L1_ENST00000360768.3_3'UTR			Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	0						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	GCAGCAGGTTTttattattatt	0.416													8	68	---	---	---	---					
TRIM50	135892	broad.mit.edu	37	7	72734195	72734195	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:72734195delT	ENST00000333149.2	-	3	646	c.446delA	c.(445-447)agfs	p.K149fs	TRIM50_ENST00000453152.1_Frame_Shift_Del_p.K149fs	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	149						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CTCATCCACCTTTTTCTGCTC	0.607													7	1826	---	---	---	---					
NSUN5P1	0	broad.mit.edu	37	7	75044524	75044526	+	RNA	DEL	AGG	AGG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:75044524_75044526delAGG	ENST00000393633.2	+	0	3680																				large_intestine(1)|lung(1)	2						TGAGTGCCACAGGAGGAGGAGGA	0.537													7	290	---	---	---	---					
RSBN1L	222194	broad.mit.edu	37	7	77326220	77326222	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:77326220_77326222delCCG	ENST00000334955.7	+	1	461_463	c.434_436delCCG	c.(433-438)ccc>c	p.PA145del		NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	145						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCTCCTGCCCGCCGCCGCCGC	0.685													15	290	---	---	---	---					
PTCD1	26024	broad.mit.edu	37	7	99032605	99032607	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:99032605_99032607delCTC	ENST00000292478.4	-	2	509_511	c.259_261delGAG	c.(259-261)del	p.E87del	ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1									p.E87K(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAAACTCTCCTCCTCCTCC	0.606													11	807	---	---	---	---					
AGFG2	3268	broad.mit.edu	37	7	100159920	100159921	+	Frame_Shift_Ins	INS	-	-	C	rs34537355		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:100159920_100159921insC	ENST00000300176.4	+	7	1038_1039	c.916_917insC	c.(916-918)accfs	p.T306fs	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	306					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACTCCCCTGGCACCCGCCAGT	0.639													7	602	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:100284335_100284337delCCT	ENST00000275732.5	-	7	1838_1840	c.629_631delAGG	c.(628-633)ggc>g	p.EG210del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.							p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.700													12	406	---	---	---	---					
PRKRIP1	79706	broad.mit.edu	37	7	102065517	102065519	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:102065517_102065519delGAG	ENST00000496391.1	+	10	1824_1826	c.514_516delGAG	c.(514-516)del	p.E176del	PRKRIP1_ENST00000397912.3_In_Frame_Del_p.E176del|PRKRIP1_ENST00000354783.4_In_Frame_Del_p.RG112del|PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000462601.1_In_Frame_Del_p.E119del			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	176	Poly-Glu.					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						ATCTGGAACAGAGGAGGAGGAGG	0.567													7	275	---	---	---	---					
CBLL1	79872	broad.mit.edu	37	7	107393940	107393940	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:107393940delT	ENST00000440859.2	+	3	733	c.266delT	c.(265-267)ctfs	p.L89fs	CBLL1_ENST00000415884.2_Frame_Shift_Del_p.L89fs|CBLL1_ENST00000222597.2_Frame_Shift_Del_p.L88fs	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	89					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CCTGGACACCTTTTTTGGGAC	0.284													7	300	---	---	---	---					
WASL	8976	broad.mit.edu	37	7	123332839	123332841	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:123332839_123332841delAGG	ENST00000223023.4	-	9	1239_1241	c.907_909delCCT	c.(907-909)del	p.P303del		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	303	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	p.P303A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCCCTagcaggaggaggagga	0.616													16	582	---	---	---	---					
TNPO3	23534	broad.mit.edu	37	7	128610259	128610259	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:128610259delG	ENST00000393245.1	-	20	3016	c.2643delC	c.(2641-2643)ccfs	p.P881fs	TNPO3_ENST00000482320.1_Frame_Shift_Del_p.P781fs|TNPO3_ENST00000265388.5_Frame_Shift_Del_p.P847fs|TNPO3_ENST00000471234.1_Frame_Shift_Del_p.P783fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.P881fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	847					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GTAGGGTATAGGGGGGGAGGC	0.483													8	1650	---	---	---	---					
C7orf55-LUC7L2	0	broad.mit.edu	37	7	139094365	139094366	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:139094365_139094366delAG	ENST00000354926.4	+	7	1098_1099	c.744_745delAG	c.(742-747)gaagfs	p.EE248fs	LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs	NM_016019.3	NP_057103.2																					AACGAAGAGAAGAGAGAGAGAG	0.391													7	139	---	---	---	---					
ZNF777	27153	broad.mit.edu	37	7	149152825	149152825	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:149152825delG	ENST00000247930.4	-	2	612	c.289delC	c.(289-291)tgfs	p.L97fs		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGGGAAGCCAGGGGGCCCTGG	0.607													8	1263	---	---	---	---					
NOM1	64434	broad.mit.edu	37	7	156743209	156743211	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:156743209_156743211delGAG	ENST00000275820.3	+	1	793_795	c.778_780delGAG	c.(778-780)del	p.E264del		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	264	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ggacgaaagtgaggaggaggagg	0.552													7	332	---	---	---	---					
BMP1	649	broad.mit.edu	37	8	22035414	22035414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:22035414delG	ENST00000306385.5	+	6	1450	c.780delG	c.(778-780)ctfs	p.L260fs	BMP1_ENST00000306349.8_Frame_Shift_Del_p.L260fs|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Frame_Shift_Del_p.L260fs|BMP1_ENST00000397814.3_Frame_Shift_Del_p.L260fs	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	260	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGGAGTCCCTGGGGGAGACCT	0.607													8	1741	---	---	---	---					
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaa>a	p.KE506del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	506					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.360			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				7	253	---	---	---	---					
BHLHE22	27319	broad.mit.edu	37	8	65494021	65494023	+	In_Frame_Del	DEL	GCA	GCA	-	rs62519837		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:65494021_65494023delGCA	ENST00000321870.1	+	1	1208_1210	c.674_676delGCA	c.(673-678)ggc>g	p.GS225del	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	225	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S234delS(1)|p.S226G(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ggcagcggcggcagcagcagcag	0.709													7	46	---	---	---	---					
RUNX1T1	862	broad.mit.edu	37	8	92998419	92998419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:92998419delT	ENST00000523629.1	-	9	1666	c.1212delA	c.(1210-1212)aafs	p.K404fs	RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	404					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCCGCCACCTTTTTTTAAGT	0.517													7	974	---	---	---	---					
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:124368685delA	ENST00000287394.5	-	13	1697	c.1590delT	c.(1588-1590)ttfs	p.F530fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413													8	236	---	---	---	---					
ZC3H3	23144	broad.mit.edu	37	8	144522387	144522389	+	In_Frame_Del	DEL	GAG	GAG	-	rs2272753	byFrequency	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:144522387_144522389delGAG	ENST00000262577.5	-	11	2668_2670	c.2637_2639delCTC	c.(2635-2640)tca>tc	p.SS879del		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			Gggaggggatgaggaggaggagg	0.655													9	130	---	---	---	---					
PLEC	5339	broad.mit.edu	37	8	145006627	145006629	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:145006627_145006629delCCT	ENST00000322810.4	-	16	2496_2498	c.2327_2329delAGG	c.(2326-2331)gtg>g	p.EV776del	PLEC_ENST00000357649.2_In_Frame_Del_p.EV643del|PLEC_ENST00000436759.2_In_Frame_Del_p.EV666del|PLEC_ENST00000354958.2_In_Frame_Del_p.EV617del|PLEC_ENST00000354589.3_In_Frame_Del_p.EV639del|PLEC_ENST00000345136.3_In_Frame_Del_p.EV639del|PLEC_ENST00000356346.3_In_Frame_Del_p.EV625del|PLEC_ENST00000527096.1_In_Frame_Del_p.EV662del|PLEC_ENST00000398774.2_In_Frame_Del_p.EV607del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	776	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGAAGCCCACCTCCTCCTCCTC	0.621													7	804	---	---	---	---					
SLC39A4	55630	broad.mit.edu	37	8	145637952	145637954	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:145637952_145637954delCAG	ENST00000276833.5	-	11	2140_2142	c.1837_1839delCTG	c.(1837-1839)del	p.L613del	SLC39A4_ENST00000301305.3_In_Frame_Del_p.L638del|SLC39A4_ENST00000531013.1_5'UTR	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	638						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CGTACAGGGACAGCAGCAGCAGG	0.601													7	1281	---	---	---	---					
KIAA0020	9933	broad.mit.edu	37	9	2837296	2837296	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:2837296delT	ENST00000397885.2	-	3	394	c.188delA	c.(187-189)agfs	p.K63fs		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	63						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388													7	1067	---	---	---	---					
ACO1	48	broad.mit.edu	37	9	32420980	32420980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:32420980delT	ENST00000379923.1	+	9	1131	c.925delT	c.(925-927)ttfs	p.F310fs	ACO1_ENST00000309951.5_Frame_Shift_Del_p.F310fs|ACO1_ENST00000541043.1_Frame_Shift_Del_p.F211fs	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	310					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AACTGCTGCCTTTTTCCCAGT	0.483													9	1310	---	---	---	---					
NFIL3	4783	broad.mit.edu	37	9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)ggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423													8	1189	---	---	---	---					
DAB2IP	153090	broad.mit.edu	37	9	124522389	124522391	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:124522389_124522391delAAG	ENST00000408936.3	+	6	1023_1025	c.841_843delAAG	c.(841-843)del	p.K285del	DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del|DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	285	C2.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGAGACCGACAAGAAGAAGAAGA	0.601													16	605	---	---	---	---					
GTF3C5	9328	broad.mit.edu	37	9	135933278	135933280	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:135933278_135933280delGAG	ENST00000372097.5	+	11	1794_1796	c.1471_1473delGAG	c.(1471-1473)del	p.E499del	GTF3C5_ENST00000372099.6_In_Frame_Del_p.E490del|GTF3C5_ENST00000342018.8_In_Frame_Del_p.E437del|GTF3C5_ENST00000372108.5_In_Frame_Del_p.E506del	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	499	Glu-rich.|Poly-Glu.					transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		cgaggaggatgaggaggaggagg	0.581													8	459	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agt>ag	p.SS858del		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	858	Ser-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571													25	604	---	---	---	---					
RP11-324H6.5	0	broad.mit.edu	37	10	51821328	51821328	+	RNA	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:51821328delG	ENST00000456967.1	-	0	1306					NR_038275.1																						CGGTCAGCTTGGGGGGTGCGA	0.517													7	1199	---	---	---	---					
ZNF365	22891	broad.mit.edu	37	10	64159366	64159366	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:64159366delA	ENST00000395254.3	+	5	1322	c.1042delA	c.(1042-1044)aafs	p.K349fs	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAACCACCTGAAAAAGGCCAA	0.567													7	1498	---	---	---	---					
PRF1	5551	broad.mit.edu	37	10	72358622	72358624	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:72358622_72358624delCTT	ENST00000441259.1	-	3	1013_1015	c.853_855delAAG	c.(853-855)del	p.K285del	PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	285	MACPF.		Missing (in FHL2).		apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCATCTTGTGCTTCTTCTTCTTC	0.591			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				12	631	---	---	---	---					
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:103919000_103919002delAGC	ENST00000405356.1	+	6	893_895	c.658_660delAGC	c.(658-660)del	p.S227del	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517													12	928	---	---	---	---					
CNNM2	54805	broad.mit.edu	37	10	104836780	104836780	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:104836780delC	ENST00000369878.3	+	8	2595	c.2471delC	c.(2470-2472)acfs	p.T824fs	CNNM2_ENST00000475511.1_3'UTR|CNNM2_ENST00000457502.2_Frame_Shift_Del_p.T582fs|CNNM2_ENST00000433628.2_Frame_Shift_Del_p.T802fs	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	824					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ATGGACAAAACCCCCCAGTCT	0.473													9	921	---	---	---	---					
AFAP1L2	84632	broad.mit.edu	37	10	116062107	116062107	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:116062107delT	ENST00000369271.3	-	12	1721	c.1421delA	c.(1420-1422)acfs	p.N474fs	AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.N527fs|AFAP1L2_ENST00000304129.4_Frame_Shift_Del_p.N474fs	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	474					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CAAGAGAGAGTTTTTGGCCGC	0.547													7	1462	---	---	---	---					
PHRF1	57661	broad.mit.edu	37	11	592586	592588	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:592586_592588delGAG	ENST00000264555.5	+	6	660_662	c.532_534delGAG	c.(532-534)del	p.E181del	PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	181	Poly-Glu.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAAAGCGAGCGAGGAGGAGGAGG	0.616													11	1249	---	---	---	---					
RRP8	23378	broad.mit.edu	37	11	6623336	6623338	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:6623336_6623338delTCC	ENST00000254605.6	-	2	324_326	c.207_209delGGA	c.(205-210)gaa>ga	p.EE69del	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	69	Poly-Glu.				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CTTCTTCCTTTCCTCCTCCTCCT	0.532													7	441	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:6662142delG	ENST00000299441.3	-	2	1114	c.703delC	c.(703-705)ggfs	p.R236fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	236	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCCCTCCGGGGGGGTGAA	0.587													7	1202	---	---	---	---					
ST5	6764	broad.mit.edu	37	11	8751894	8751894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:8751894delT	ENST00000534127.1	-	6	1328	c.943delA	c.(943-945)ggfs	p.R315fs	ST5_ENST00000357665.1_Frame_Shift_Del_p.R315fs|ST5_ENST00000526757.1_Intron|ST5_ENST00000313726.6_Frame_Shift_Del_p.R315fs|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	315					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCAGTCTTCCTTTTCCCCCGG	0.682													7	851	---	---	---	---					
SAAL1	113174	broad.mit.edu	37	11	18127531	18127533	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:18127531_18127533delCCT	ENST00000524803.1	-	1	105_107	c.56_58delAGG	c.(55-60)gtg>g	p.EV19del	SAAL1_ENST00000300013.4_In_Frame_Del_p.EV19del|SAAL1_ENST00000529318.1_In_Frame_Del_p.EV19del|SAAL1_ENST00000533851.1_5'UTR			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	19					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						CCACCGGCCACCTCCTCCTCCTC	0.670											OREG0020819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	159	---	---	---	---					
E2F8	79733	broad.mit.edu	37	11	19251461	19251461	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:19251461delG	ENST00000527884.1	-	10	1665	c.1433delC	c.(1432-1434)cafs	p.P478fs	E2F8_ENST00000250024.4_Frame_Shift_Del_p.P478fs|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	478					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCATTCACTGGGGGGTCCAG	0.547													7	2137	---	---	---	---					
ARHGAP1	392	broad.mit.edu	37	11	46702224	46702224	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:46702224delG	ENST00000311956.4	-	8	806	c.709delC	c.(709-711)tgfs	p.L237fs		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	237					Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TGGTTGGGCAGGGGGGGCCGT	0.642													8	736	---	---	---	---					
OR5AR1	219493	broad.mit.edu	37	11	56431467	56431467	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:56431467delT	ENST00000302969.2	+	1	330	c.306delT	c.(304-306)gcfs	p.A102fs		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CCCAGTTTGCTTTTTTTGTAG	0.507													7	1533	---	---	---	---					
TMEM132A	54972	broad.mit.edu	37	11	60699534	60699534	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:60699534delG	ENST00000005286.4	+	7	1447	c.1294delG	c.(1294-1296)ggfs	p.G433fs	TMEM132A_ENST00000453848.2_Frame_Shift_Del_p.G432fs	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	432						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGTGGACGGCGGGGGGGCCTT	0.642													7	761	---	---	---	---					
TMEM132A	54972	broad.mit.edu	37	11	60703785	60703787	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:60703785_60703787delGGA	ENST00000005286.4	+	11	2634_2636	c.2481_2483delGGA	c.(2479-2484)agg>ag	p.RE827del	TMEM132A_ENST00000453848.2_In_Frame_Del_p.RE826del	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	826	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCGAAGCCAGggaggaggaggag	0.635													8	762	---	---	---	---					
INTS5	80789	broad.mit.edu	37	11	62416219	62416221	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:62416219_62416221delGCA	ENST00000330574.2	-	2	1383_1385	c.1331_1333delTGC	c.(1330-1335)cac>c	p.LH444del		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	444					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TTTTGCAGGTGCAGCAGCAGCAG	0.621													8	679	---	---	---	---					
LRFN4	78999	broad.mit.edu	37	11	66625231	66625233	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:66625231_66625233delCTG	ENST00000309602.4	+	1	259_261	c.16_18delCTG	c.(16-18)del	p.L10del	PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_In_Frame_Del_p.L10del|PC_ENST00000393958.2_Intron|LRFN4_ENST00000531590.1_3'UTR|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	10						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CCCGCCGCTCCTGCTGCTGCTGC	0.719													8	273	---	---	---	---					
NUMA1	0	broad.mit.edu	37	11	71724190	71724190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:71724190delC	ENST00000393695.3	-	15	4690	c.4359delG	c.(4357-4359)ggfs	p.G1453fs	NUMA1_ENST00000358965.6_Frame_Shift_Del_p.G1453fs|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1453					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCTCACCCAGCCCCCGGTTCT	0.622			T	RARA	APL								8	1503	---	---	---	---					
BCL9L	283149	broad.mit.edu	37	11	118770651	118770652	+	Frame_Shift_Ins	INS	-	-	G	rs139987150		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:118770651_118770652insG	ENST00000334801.3	-	7	4344_4345	c.3380_3381insC	c.(3379-3381)cccfs	p.P1127fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1127	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCGGTGGTGGTGGGGGGGGCAG	0.703													11	379	---	---	---	---					
DPAGT1	1798	broad.mit.edu	37	11	118967854	118967856	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:118967854_118967856delGCA	ENST00000409993.2	-	10	2708_2710	c.1157_1159delTGC	c.(1156-1161)cag>c	p.LQ386del	DPAGT1_ENST00000432443.2_In_Frame_Del_p.LQ279del|DPAGT1_ENST00000354202.4_In_Frame_Del_p.LQ386del			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	386					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ATCCTCACCTGCAGCAGCAGCAG	0.488													8	855	---	---	---	---					
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:119149356_119149358delATG	ENST00000264033.4	+	9	1740_1742	c.1364_1366delATG	c.(1363-1368)tat>t	p.YD455del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	455	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				7	406	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:46318575_46318577delGGT	ENST00000465950.1	-	2	4104_4106	c.2895_2897delACC	c.(2893-2898)ccc>cc	p.PP969del	SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1284	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483													11	833	---	---	---	---					
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:49087434_49087436delATG	ENST00000261900.3	-	9	1783_1785	c.1561_1563delCAT	c.(1561-1563)del	p.H521del		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	521	His-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443													34	2078	---	---	---	---					
PRPF40B	25766	broad.mit.edu	37	12	50025258	50025258	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:50025258delC	ENST00000261897.1	+	2	626	c.75delC	c.(73-75)atfs	p.I25fs	PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.I31fs|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.I53fs			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	31	Pro-rich.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CACCAGCTATCCCCCCCATGC	0.607													7	1239	---	---	---	---					
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tac>ta	p.YF102del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													17	867	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57605740	57605742	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:57605740_57605742delTGC	ENST00000243077.3	+	87	13755_13757	c.13289_13291delTGC	c.(13288-13293)ttg>t	p.LL4432del		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4432					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCTGCTGTTGCTGCTGCTGCT	0.557													7	1093	---	---	---	---					
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)gctfs	p.A88fs	B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589													18	1044	---	---	---	---					
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)del	p.S45del	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	1091	---	---	---	---					
POP5	51367	broad.mit.edu	37	12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:121017154_121017156delCTC	ENST00000341039.2	-	4	323_325	c.307_309delGAG	c.(307-309)del	p.E103del	POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing		protein binding|ribonuclease P activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517													7	895	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132446446	132446448	+	In_Frame_Del	DEL	GAG	GAG	-	rs62635809	byFrequency	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:132446446_132446448delGAG	ENST00000333577.4	+	2	1391_1393	c.1282_1284delGAG	c.(1282-1284)del	p.E437del	EP400_ENST00000389561.2_In_Frame_Del_p.E437del|EP400_ENST00000389562.2_In_Frame_Del_p.E437del|EP400_ENST00000330386.6_In_Frame_Del_p.E437del|EP400_ENST00000332482.4_In_Frame_Del_p.E437del			Q96L91	EP400_HUMAN	E1A binding protein p400	437	Poly-Glu.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.E428E(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CATTgaagaagaggaggaggagg	0.379													8	287	---	---	---	---					
LRCH1	23143	broad.mit.edu	37	13	47243183	47243186	+	Frame_Shift_Del	DEL	CCTG	CCTG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:47243183_47243186delCCTG	ENST00000311191.6	+	3	700_703	c.471_474delCCTG	c.(469-474)gcfs	p.AL157fs	LRCH1_ENST00000389798.3_Frame_Shift_Del_p.AL157fs|LRCH1_ENST00000389797.3_Frame_Shift_Del_p.AL157fs	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	157										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGCTGTCCGCCCTGCCTGCCTGCC	0.436													16	1124	---	---	---	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)acc>ac	p.TL5del	LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	5					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.670													30	674	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23528607	23528609	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:23528607_23528609delTCT	ENST00000262710.1	-	19	4101_4103	c.3774_3776delAGA	c.(3772-3777)gag>ga	p.EE1258del	ACIN1_ENST00000555053.1_In_Frame_Del_p.EE1245del|ACIN1_ENST00000457657.1_In_Frame_Del_p.EE1218del|ACIN1_ENST00000338631.6_In_Frame_Del_p.EE531del|ACIN1_ENST00000605057.1_In_Frame_Del_p.EE1200del|ACIN1_ENST00000397341.3_In_Frame_Del_p.EE500del|ACIN1_ENST00000557515.1_In_Frame_Del_p.EE499del|ACIN1_ENST00000357481.2_In_Frame_Del_p.EE500del	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1258	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ctccttttgctcttcttcttctt	0.601													10	384	---	---	---	---					
REC8	9985	broad.mit.edu	37	14	24646921	24646921	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:24646921delC	ENST00000311457.3	+	12	1417	c.818delC	c.(817-819)acfs	p.T273fs	REC8_ENST00000559919.1_Frame_Shift_Del_p.T273fs			O95072	REC8_HUMAN	REC8 meiotic recombination protein	274	Glu-rich.|Pro-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GCAGAGGTGACCCCCCCGGAG	0.612													7	542	---	---	---	---					
ADCY4	196883	broad.mit.edu	37	14	24791301	24791301	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:24791301delG	ENST00000310677.4	-	21	2670	c.2557delC	c.(2557-2559)agfs	p.Q853fs	ADCY4_ENST00000554068.2_Frame_Shift_Del_p.Q853fs|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.Q853fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	853					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCAATGAACTGGGGGGCCACG	0.587													7	1221	---	---	---	---					
FSCB	84075	broad.mit.edu	37	14	44975663	44975663	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:44975663delC	ENST00000340446.4	-	1	819	c.528delG	c.(526-528)aafs	p.K176fs		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	176						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTTCCTTTGACTTTGTAGAAG	0.403													10	962	---	---	---	---					
FANCM	57697	broad.mit.edu	37	14	45642288	45642289	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:45642288_45642289delCT	ENST00000267430.5	+	13	2276_2277	c.2191_2192delCT	c.(2191-2193)cfs	p.L731fs	FANCM_ENST00000542564.2_Frame_Shift_Del_p.L705fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	731					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATTCATCAACTCTCTCTCTCT	0.347								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	357	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)del	p.S1468del	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552													15	901	---	---	---	---					
TTC8	123016	broad.mit.edu	37	14	89338724	89338726	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:89338724_89338726delCAA	ENST00000338104.6	+	13	1375_1377	c.1323_1325delCAA	c.(1321-1326)gtc>gt	p.VN441del	TTC8_ENST00000536576.1_In_Frame_Del_p.VN186del|TTC8_ENST00000380656.2_In_Frame_Del_p.VN425del|TTC8_ENST00000358622.5_In_Frame_Del_p.VN227del|TTC8_ENST00000345383.5_In_Frame_Del_p.VN415del|TTC8_ENST00000346301.4_In_Frame_Del_p.VN385del|TTC8_ENST00000354441.6_In_Frame_Del_p.VN160del			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	451					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGGCTCTGGTCAACAACAACAAC	0.537													7	747	---	---	---	---					
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tca>tc	p.SS360del	FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|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													16	316	---	---	---	---					
BTBD7	55727	broad.mit.edu	37	14	93712186	93712188	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:93712186_93712188delTGC	ENST00000334746.5	-	10	2873_2875	c.2566_2568delGCA	c.(2566-2568)del	p.A856del	BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del|BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	856	Poly-Ala.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTCTCAGAtgctgctgctgct	0.537													7	284	---	---	---	---					
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:94545821_94545823delCCT	ENST00000330836.5	-	2	397_399	c.266_268delAGG	c.(265-270)gga>g	p.EG89del	DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443													10	604	---	---	---	---					
SYNE3	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)del	p.E321del	SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616													11	971	---	---	---	---					
TNFAIP2	7127	broad.mit.edu	37	14	103599784	103599786	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:103599784_103599786delAGC	ENST00000560869.1	+	10	2270_2272	c.1631_1633delAGC	c.(1630-1635)gag>g	p.EQ544del	TNFAIP2_ENST00000451723.2_In_Frame_Del_p.EQ213del|TNFAIP2_ENST00000333007.1_In_Frame_Del_p.EQ544del|TNFAIP2_ENST00000538222.1_In_Frame_Del_p.EQ27del			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	544					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AAGACGGCCGAGCAGCAGCAGCA	0.626													10	606	---	---	---	---					
INF2	64423	broad.mit.edu	37	14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:105174270_105174271insG	ENST00000392634.4	+	8	1778_1779	c.1666_1667insG	c.(1666-1668)ggtfs	p.G556fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.G556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	556	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663													8	589	---	---	---	---					
AKT1	207	broad.mit.edu	37	14	105242073	105242075	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:105242073_105242075delCTC	ENST00000554581.1	-	4	1829_1831	c.349_351delGAG	c.(349-351)del	p.E117del	AKT1_ENST00000554848.1_In_Frame_Del_p.E117del|AKT1_ENST00000555528.1_In_Frame_Del_p.E117del|AKT1_ENST00000407796.2_In_Frame_Del_p.E117del|AKT1_ENST00000544168.1_In_Frame_Del_p.E55del|AKT1_ENST00000349310.3_In_Frame_Del_p.E117del|AKT1_ENST00000402615.2_In_Frame_Del_p.E117del			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	117					activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GGAAGTCCATCTCCTCCTCCTCC	0.631		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								8	621	---	---	---	---					
IGHV3-13	0	broad.mit.edu	37	14	106586299	106586299	+	RNA	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:106586299delT	ENST00000390602.2	-	0	265																											ACTCCAGACCTTTTCCTGTAG	0.547													8	846	---	---	---	---					
IGHV3-21	0	broad.mit.edu	37	14	106691799	106691801	+	RNA	DEL	ACT	ACT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:106691799_106691801delACT	ENST00000390607.2	-	0	301_303																											AGTATATGTAACTACTACTACTA	0.517													15	1523	---	---	---	---					
IGHV3-48	0	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304																											TAGTATATGGTACTACTACTACT	0.502													13	1200	---	---	---	---					
HERC2P2	0	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:23299147delA	ENST00000560464.1	-	0	4510																											ACATTCAAAGAAAAAAAAAAA	0.313													9	29	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25456925	25456925	+	RNA	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:25456925delG	ENST00000424208.1	+	0	2516				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						TGTGTGGGCAGGGGGGGTGCC	0.557													8	1575	---	---	---	---					
AVEN	57099	broad.mit.edu	37	15	34163233	34163234	+	Splice_Site	DEL	TA	TA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:34163233_34163234delTA	ENST00000306730.3	-	4	646		c.e4-2		AVEN_ENST00000558136.1_Splice_Site	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor						anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TGCTGAATTCtatatatatata	0.371													9	162	---	---	---	---					
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)cta>ct	p.LL16del	EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		ATCCCCCGATAGCAGCAGCAGCA	0.665													30	1365	---	---	---	---					
EIF2AK4	440275	broad.mit.edu	37	15	40282508	40282508	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:40282508delT	ENST00000263791.5	+	16	2604	c.2561delT	c.(2560-2562)atfs	p.I854fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	854	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCTGTCAACATTTTTTTGGAT	0.358													11	1177	---	---	---	---					
C15orf52	388115	broad.mit.edu	37	15	40631782	40631782	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:40631782delC	ENST00000559313.1	-	3	309	c.294delG	c.(292-294)ggfs	p.G98fs		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	98								p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCACAGCCATCCCCCCCTGCT	0.647													10	827	---	---	---	---					
TTBK2	146057	broad.mit.edu	37	15	43038313	43038313	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:43038313delT	ENST00000267890.6	-	15	3523	c.3415delA	c.(3415-3417)cafs	p.T1139fs		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1139					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTGGGTGGTGTTTTTGGATTG	0.542													7	904	---	---	---	---					
SLC24A1	9187	broad.mit.edu	37	15	65943128	65943130	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:65943128_65943130delGAG	ENST00000261892.6	+	7	2928_2930	c.2641_2643delGAG	c.(2641-2643)del	p.E890del	SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	890	Poly-Glu.				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						gcaggaggaagaggaggaggagg	0.562													8	210	---	---	---	---					
ARID3B	10620	broad.mit.edu	37	15	74888025	74888027	+	In_Frame_Del	DEL	CAG	CAG	-	rs141710149		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:74888025_74888027delCAG	ENST00000346246.5	+	9	1824_1826	c.1593_1595delCAG	c.(1591-1596)gcc>gc	p.AS531del		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	532	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						gcagcagcgccagcagcagcagc	0.640													12	366	---	---	---	---					
CPLX3	594855	broad.mit.edu	37	15	75122558	75122560	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:75122558_75122560delGAG	ENST00000395018.4	+	3	497_499	c.340_342delGAG	c.(340-342)del	p.E118del	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	118						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						GGAGGACACAGAGGAGGAGGAGG	0.616													13	630	---	---	---	---					
AKAP13	11214	broad.mit.edu	37	15	86198981	86198981	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:86198981delA	ENST00000394518.2	+	11	4803	c.4708delA	c.(4708-4710)aafs	p.K1570fs	RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000361243.2_Frame_Shift_Del_p.K1570fs|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1570					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGGGCCTGGGAAAAATGCAGC	0.532													8	673	---	---	---	---					
Z97634.5	0	broad.mit.edu	37	16	437259	437260	+	RNA	DEL	AT	AT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:437259_437260delAT	ENST00000412293.1	+	0	521					NR_024453.2																						CTAATTCTAAATATATATATAT	0.421													9	141	---	---	---	---					
WDR90	197335	broad.mit.edu	37	16	709106	709106	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:709106delC	ENST00000549091.1	+	25	3124	c.3032delC	c.(3031-3033)gcfs	p.A1011fs	WDR90_ENST00000293879.4_Frame_Shift_Del_p.A1011fs	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1011										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TTCCCCGGGGCCCCCCCAGCC	0.657													8	901	---	---	---	---					
PRSS29P	0	broad.mit.edu	37	16	1311513	1311514	+	RNA	INS	-	-	GGCA	rs5815085	by1000genomes	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:1311513_1311514insGGCA	ENST00000568091.1	-	0	1353																											GGTGGGAGCAGGGCAGGCAGGC	0.708													9	10	---	---	---	---					
EME2	197342	broad.mit.edu	37	16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:1824298_1824300delTGC	ENST00000307394.7	+	3	422_424	c.422_424delTGC	c.(421-426)ttg>t	p.LL143del	EME2_ENST00000568449.1_In_Frame_Del_p.LL143del			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	143					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination					16	840	---	---	---	---					
BRICD5	283870	broad.mit.edu	37	16	2260586	2260588	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:2260586_2260588delCAG	ENST00000328540.3	-	2	1231_1233	c.115_117delCTG	c.(115-117)del	p.L39del	BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del|BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del	NM_182563.3	NP_872369.2			BRICHOS domain containing 5																		CGGCcagcaccagcagcagcagc	0.660													11	270	---	---	---	---					
C16orf62	57020	broad.mit.edu	37	16	19580800	19580802	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:19580800_19580802delTCC	ENST00000438132.3	+	3	487_489	c.439_441delTCC	c.(439-441)del	p.S153del	C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del|C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del|C16orf62_ENST00000251143.5_In_Frame_Del_p.S64del|C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	64						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTCTTCCACGTCCTCCTCCTCCT	0.562													18	491	---	---	---	---					
KNOP1	400506	broad.mit.edu	37	16	19722724	19722724	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:19722724delT	ENST00000219837.7	-	3	1035	c.957delA	c.(955-957)aafs	p.K319fs	KNOP1_ENST00000568230.1_5'UTR|AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1									p.G320fs*5(1)|p.K319N(1)									CCATGTTGCCTTTTTTTTCCA	0.562													11	657	---	---	---	---					
IL4R	3566	broad.mit.edu	37	16	27373787	27373789	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:27373787_27373789delGAG	ENST00000395762.2	+	11	1373_1375	c.1114_1116delGAG	c.(1114-1116)del	p.E376del	IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000565915.1_3'UTR	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	376	Poly-Glu.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGTGGAGTGTGAGGAGGAGGAGG	0.591													10	484	---	---	---	---					
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)ggg>g	p.DG57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532													12	2047	---	---	---	---					
SETD1A	9739	broad.mit.edu	37	16	30977317	30977317	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:30977317delC	ENST00000262519.8	+	8	2801	c.2115delC	c.(2113-2115)ggfs	p.G705fs		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA 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						CCTCAGCTGGCCCCCCCGGTG	0.642													8	965	---	---	---	---					
NOD2	64127	broad.mit.edu	37	16	50745399	50745399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:50745399delC	ENST00000300589.2	+	4	1682	c.1577delC	c.(1576-1578)acfs	p.T526fs		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	526	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTGCATGCCACCCCCCCAGAC	0.617													9	794	---	---	---	---					
NLRC5	84166	broad.mit.edu	37	16	57059906	57059909	+	Frame_Shift_Del	DEL	CTGC	CTGC	-	rs71689645		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:57059906_57059909delCTGC	ENST00000436936.1	+	6	1276_1279	c.1051_1054delCTGC	c.(1051-1056)ctfs	p.LP351fs	NLRC5_ENST00000308149.7_Frame_Shift_Del_p.LP351fs|NLRC5_ENST00000539144.1_Frame_Shift_Del_p.LP351fs|NLRC5_ENST00000262510.6_Frame_Shift_Del_p.LP351fs			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	351	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCCAGGGAAGctgcctgcctgcct	0.613													10	645	---	---	---	---					
CDH16	1014	broad.mit.edu	37	16	66945996	66945998	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:66945996_66945998delCAC	ENST00000299752.4	-	13	1787_1789	c.1594_1596delGTG	c.(1594-1596)del	p.V532del	CDH16_ENST00000565796.1_In_Frame_Del_p.V532del|CDH16_ENST00000394055.3_In_Frame_Del_p.V532del|CDH16_ENST00000570262.1_In_Frame_Del_p.V452del|CDH16_ENST00000568632.1_In_Frame_Del_p.V435del	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	532	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCACACTCTGCACCACCACCACC	0.635													7	559	---	---	---	---					
ACD	65057	broad.mit.edu	37	16	67693646	67693648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:67693646_67693648delGCA	ENST00000219251.8	-	3	873_875	c.542_544delTGC	c.(541-546)cag>c	p.LQ181del	ACD_ENST00000393919.4_In_Frame_Del_p.LQ184del	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	184					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.L181delL(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCGCAGTCCTGCAGCAGCAGCAG	0.650													10	1276	---	---	---	---					
RANBP10	57610	broad.mit.edu	37	16	67763279	67763281	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:67763279_67763281delGAG	ENST00000317506.3	-	10	1369_1371	c.1254_1256delCTC	c.(1252-1257)tcg>tc	p.SS420del	RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del|RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	420	Ser-rich.							p.S418S(2)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ggaagaggacgaggaggaggagg	0.567													13	304	---	---	---	---					
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aafs	p.K401fs	CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522													8	2097	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72831016	72831018	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:72831016_72831018delCTG	ENST00000268489.5	-	9	6235_6237	c.5563_5565delCAG	c.(5563-5565)del	p.Q1855del	ZFHX3_ENST00000397992.5_In_Frame_Del_p.Q941del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1855	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)				AGAGTTGGTTCTGCTGCTGCTGC	0.527													7	1312	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72845830	72845830	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:72845830delT	ENST00000268489.5	-	6	4309	c.3637delA	c.(3637-3639)cafs	p.T1213fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.T299fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1213					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)				TCCTCAGCTGTTTTTGGTCGC	0.537													7	2012	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72991716	72991718	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:72991716_72991718delCCG	ENST00000268489.5	-	2	2999_3001	c.2327_2329delCGG	c.(2326-2331)gtg>g	p.AV776del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	776	Poly-Ala.				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)				gccgcagccaccgccgccgccgc	0.635													8	574	---	---	---	---					
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:3721809_3721811delTCC	ENST00000158149.3	-	11	1111_1113	c.216_218delGGA	c.(214-219)gaa>ga	p.EE78del	C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	358							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507													15	641	---	---	---	---					
ZBTB4	57659	broad.mit.edu	37	17	7366349	7366351	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:7366349_7366351delTCC	ENST00000311403.4	-	4	2289_2291	c.1950_1952delGGA	c.(1948-1953)gat>ga	p.ED650del	ZBTB4_ENST00000380599.4_In_Frame_Del_p.ED650del	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	650	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		Ttcctcctcatcctcctcctcct	0.606													9	273	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577058	7577059	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:7577058_7577059delCC	ENST00000420246.2	-	8	1011_1012	c.879_880delGG	c.(877-882)ggagfs	p.GE293fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.GE293fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.GE293fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.GE293fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.GE293fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	293	Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E294*(46)|p.E294fs*51(10)|p.K291fs*48(8)|p.0?(8)|p.G293G(7)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(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)		TGGTGAGGCTCCCCTTTCTTGC	0.569		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)			19	493	---	---	---	---					
WRAP53	55135	broad.mit.edu	37	17	7606714	7606715	+	Frame_Shift_Ins	INS	-	-	G	rs146634933		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:7606714_7606715insG	ENST00000316024.5	+	10	3905_3906	c.1557_1558insG	c.(1555-1560)tgggggfs	p.WG519fs	WRAP53_ENST00000431639.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000534050.1_Frame_Shift_Ins_p.WG486fs|WRAP53_ENST00000457584.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000396463.2_Frame_Shift_Ins_p.WG519fs			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	519					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TCTGGTGGTGTGGGGGGGCGCC	0.599													10	590	---	---	---	---					
RANGRF	29098	broad.mit.edu	37	17	8192146	8192146	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:8192146delT	ENST00000439238.3	+	1	151	c.40delT	c.(40-42)ttfs	p.F14fs	SLC25A35_ENST00000581320.1_Intron|RANGRF_ENST00000407006.4_Frame_Shift_Del_p.F14fs|RANGRF_ENST00000580434.1_Frame_Shift_Del_p.F14fs|SLC25A35_ENST00000579192.1_Intron|SLC25A35_ENST00000380067.2_3'UTR|SLC25A35_ENST00000396278.1_Intron|RANGRF_ENST00000226105.6_Frame_Shift_Del_p.F14fs			Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	14					protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity			endometrium(1)	1						CGGGGGCGCCTTTTCCGCCAT	0.617													7	911	---	---	---	---					
AC005863.1	0	broad.mit.edu	37	17	14673542	14673543	+	RNA	INS	-	-	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:14673542_14673543insT	ENST00000379640.1	-	0	354_355																											GCTGGTCCCAGTTTTTTTTTCT	0.450													7	270	---	---	---	---					
RAI1	10743	broad.mit.edu	37	17	17699993	17699995	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:17699993_17699995delGCA	ENST00000353383.1	+	3	4200_4202	c.3731_3733delGCA	c.(3730-3735)cgc>c	p.RS1244del	RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1244	Poly-Ser.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TTGCGGAGCCGCAGCAGCAGCAG	0.626													9	296	---	---	---	---					
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)del	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537													27	2051	---	---	---	---					
PIP4K2B	8396	broad.mit.edu	37	17	36955530	36955530	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:36955530delC	ENST00000269554.3	-	1	628	c.148delG	c.(148-150)tgfs	p.V50fs	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	50	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						GTGTGGTTCACCCCCCACATC	0.677													8	455	---	---	---	---					
WIPF2	147179	broad.mit.edu	37	17	38421174	38421176	+	In_Frame_Del	DEL	CTC	CTC	-	rs151273872	byFrequency	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:38421174_38421176delCTC	ENST00000323571.4	+	5	986_988	c.746_748delCTC	c.(745-750)gct>g	p.AP249del	WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_In_Frame_Del_p.AP249del|WIPF2_ENST00000583130.1_In_Frame_Del_p.AP249del|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	249						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CAGTCTCTGGCTCCTCCTCCTCC	0.596										HNSCC(43;0.11)			9	1583	---	---	---	---					
KRTAP9-1	0	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:39346425_39346427delGTG	ENST00000398470.1	+	1	287_289	c.287_289delGTG	c.(286-291)tgc>t	p.CG96del	KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	96	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606													13	183	---	---	---	---					
SPPL2C	162540	broad.mit.edu	37	17	43923242	43923244	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:43923242_43923244delCTG	ENST00000329196.5	+	1	987_989	c.970_972delCTG	c.(970-972)del	p.L327del	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	327						integral to membrane	aspartic-type endopeptidase activity										GCCGCTGCCTCTGCTGCTGCTGG	0.650													7	583	---	---	---	---					
SCRN2	90507	broad.mit.edu	37	17	45916929	45916929	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:45916929delC	ENST00000407215.3	-	4	518	c.437delG	c.(436-438)gcfs	p.G146fs	SCRN2_ENST00000290216.9_Frame_Shift_Del_p.G146fs|SCRN2_ENST00000584123.1_Frame_Shift_Del_p.G154fs			Q96FV2	SCRN2_HUMAN	secernin 2	146					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CAGGCAGTTGCCCCCCTGCCC	0.617													7	1755	---	---	---	---					
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:48433967delC	ENST00000017003.2	+	8	1627	c.1578delC	c.(1576-1578)tafs	p.Y526fs	XYLT2_ENST00000507602.1_Frame_Shift_Del_p.Y526fs	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	526					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATGGCAGCTACCCCCCCGGCA	0.602													7	685	---	---	---	---					
BZRAP1	9256	broad.mit.edu	37	17	56387404	56387406	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:56387404_56387406delTCC	ENST00000355701.3	-	21	4683_4685	c.3813_3815delGGA	c.(3811-3816)gaa>ga	p.EE1273del	BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del|BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1273	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGctcctcttcctcctcctcct	0.586													19	554	---	---	---	---					
BPTF	2186	broad.mit.edu	37	17	65905759	65905759	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:65905759delA	ENST00000321892.4	+	12	3313	c.3252delA	c.(3250-3252)ccfs	p.P1084fs	BPTF_ENST00000424123.3_Frame_Shift_Del_p.P945fs|BPTF_ENST00000306378.6_Frame_Shift_Del_p.P958fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.P1084fs			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1084					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CACGAAGTCCAAAAAAAATAA	0.308													9	146	---	---	---	---					
GPRC5C	0	broad.mit.edu	37	17	72436565	72436567	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:72436565_72436567delTGC	ENST00000392627.1	+	2	1911_1913	c.785_787delTGC	c.(784-789)atg>a	p.ML262del	GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_In_Frame_Del_p.ML229del|GPRC5C_ENST00000342648.5_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	217						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						ATCTACGTCATGCTGCTGCTGCT	0.665													8	364	---	---	---	---					
KIAA0195	9772	broad.mit.edu	37	17	73482037	73482039	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:73482037_73482039delTGC	ENST00000314256.7	+	4	624_626	c.230_232delTGC	c.(229-234)gtg>g	p.VL77del	KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_In_Frame_Del_p.VL87del	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	77					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTACTGGCCGTGCTGCTGCTGCT	0.675													11	267	---	---	---	---					
ITGB4	3691	broad.mit.edu	37	17	73732157	73732158	+	Frame_Shift_Del	DEL	GT	GT	-	rs121912463		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:73732157_73732158delGT	ENST00000200181.3	+	14	1870_1871	c.1683_1684delGT	c.(1681-1686)cagtfs	p.QC561fs	ITGB4_ENST00000579662.1_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000450894.3_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000449880.2_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Frame_Shift_Del_p.QC561fs	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	561	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCATGGGCCAGTGTGTGTGTGA	0.604													7	1443	---	---	---	---					
ADNP2	22850	broad.mit.edu	37	18	77894260	77894261	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr18:77894260_77894261insC	ENST00000262198.4	+	4	1419_1420	c.964_965insC	c.(964-966)cccfs	p.P322fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	322	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A325fs*59(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTCACTCATTCCCCCCCTGCT	0.644													9	746	---	---	---	---					
GADD45GIP1	90480	broad.mit.edu	37	19	13065273	13065275	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:13065273_13065275delGCT	ENST00000316939.1	-	2	439_441	c.416_418delAGC	c.(415-420)cgg>c	p.QR139del		NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	139	Poly-Gln.				cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						CAGTTCTCCCGCTGCTGCTGCTG	0.635													7	666	---	---	---	---					
GIPC1	10755	broad.mit.edu	37	19	14593760	14593760	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:14593760delT	ENST00000393033.4	-	4	298	c.29delA	c.(28-30)agfs	p.K10fs	GIPC1_ENST00000586027.1_Frame_Shift_Del_p.K10fs|GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000345425.2_Frame_Shift_Del_p.K10fs|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000393028.1_Intron	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	10					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AGGGGGCGCCTTTTTCCGCCG	0.697													7	243	---	---	---	---					
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:17160706_17160707delGA	ENST00000593360.1	-	10	3044_3045	c.1026_1027delTC	c.(1024-1029)tcgtfs	p.SR342fs	HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	403					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495													19	1371	---	---	---	---					
CILP2	148113	broad.mit.edu	37	19	19654512	19654512	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:19654512delC	ENST00000586018.1	+	8	1278	c.1176delC	c.(1174-1176)gafs	p.D392fs	CILP2_ENST00000291495.4_Frame_Shift_Del_p.D386fs			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	386						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CAGCCTGCGACCCCCGGCCCC	0.647													7	2838	---	---	---	---					
WBP7	0	broad.mit.edu	37	19	36214865	36214866	+	Frame_Shift_Ins	INS	-	-	G	rs34014681	by1000genomes	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:36214865_36214866insG	ENST00000222270.7	+	8	3291_3292	c.3291_3292insG	c.(3289-3294)ccggggfs	p.PG1097fs	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Frame_Shift_Ins_p.PG1097fs	NM_014727.1	NP_055542.1																					ACTCGGAGCCCGGGGGCCCCCC	0.574													11	331	---	---	---	---					
CAPNS1	826	broad.mit.edu	37	19	36631941	36631943	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:36631941_36631943delGGC	ENST00000246533.3	+	2	626_628	c.28_30delGGC	c.(28-30)del	p.G20del	CAPNS1_ENST00000590874.1_In_Frame_Del_p.G20del|CAPNS1_ENST00000589146.1_In_Frame_Del_p.G20del|CAPNS1_ENST00000587718.1_In_Frame_Del_p.G20del|CAPNS1_ENST00000588780.1_In_Frame_Del_p.G20del|CAPNS1_ENST00000588815.1_In_Frame_Del_p.G20del	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	20	Gly-rich (hydrophobic).|Poly-Gly.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTTCTTGAAGggcggcggcggcg	0.719													8	264	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:38948159_38948160delTG	ENST00000355481.4	+	17	1945_1946	c.1814_1815delTG	c.(1813-1815)cfs	p.L605fs	RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	605	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTATGCTCCCTGTGTGTGTGTA	0.530													10	1610	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	39019604	39019606	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:39019604_39019606delAGG	ENST00000355481.4	+	75	11164_11166	c.11033_11035delAGG	c.(11032-11037)cag>c	p.QE3678del	RYR1_ENST00000360985.3_In_Frame_Del_p.QE3683del|RYR1_ENST00000359596.3_In_Frame_Del_p.QE3683del	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3683					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTGGggagcaggaggaggagga	0.576													7	119	---	---	---	---					
ZFP36	7538	broad.mit.edu	37	19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:39898948_39898950delCAC	ENST00000597629.1	+	2	682_684	c.608_610delCAC	c.(607-612)tca>t	p.SP203del	ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del			P26651	TTP_HUMAN	ZFP36 ring finger protein	197					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685													7	1924	---	---	---	---					
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:40900180_40900182delTCC	ENST00000324001.7	-	7	4347_4349	c.4077_4079delGGA	c.(4075-4080)gaa>ga	p.EE1359del	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1359	Poly-Glu.		Missing.		axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.695													12	189	---	---	---	---					
CEACAM5	1048	broad.mit.edu	37	19	42224866	42224866	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:42224866delC	ENST00000221992.6	+	8	1910	c.1796delC	c.(1795-1797)tcfs	p.S599fs	CEACAM5_ENST00000398599.4_Frame_Shift_Del_p.S598fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Del_p.S599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCATCATTTCCCCCCCAGAC	0.547													8	1688	---	---	---	---					
PVRL2	5819	broad.mit.edu	37	19	45381749	45381751	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:45381749_45381751delGAG	ENST00000252485.4	+	6	1663_1665	c.1312_1314delGAG	c.(1312-1314)del	p.E445del	PVRL2_ENST00000252483.5_Intron	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	504					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591													11	230	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45556129	45556129	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:45556129delC	ENST00000544944.2	+	3	970	c.278delC	c.(277-279)acfs	p.T93fs	CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000221455.3_Frame_Shift_Del_p.T93fs			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing|RNA splicing	nucleus		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCGACTACACCCCCCCTCTG	0.612													7	752	---	---	---	---					
NKPD1	284353	broad.mit.edu	37	19	45655769	45655771	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:45655769_45655771delCTG	ENST00000317951.4	-	4	1923_1925	c.1924_1926delCAG	c.(1924-1926)del	p.Q642del	NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000438936.2_In_Frame_Del_p.Q420del	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CAAAGTCCCCCTGCTGCTGCTGC	0.704													8	83	---	---	---	---					
ZC3H4	23211	broad.mit.edu	37	19	47572401	47572403	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:47572401_47572403delCTC	ENST00000253048.5	-	14	2381_2383	c.2344_2346delGAG	c.(2344-2346)del	p.E782del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	782							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCGCTCTCTCCTCCTCCTCC	0.700													7	1046	---	---	---	---					
DHX34	9704	broad.mit.edu	37	19	47883158	47883160	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:47883158_47883160delGGA	ENST00000328771.4	+	14	3247_3249	c.2898_2900delGGA	c.(2896-2901)ctg>ct	p.LE966del		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	966						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													15	376	---	---	---	---					
RASIP1	54922	broad.mit.edu	37	19	49238617	49238619	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:49238617_49238619delGCC	ENST00000222145.4	-	4	1217_1219	c.1013_1015delGGC	c.(1012-1017)cag>c	p.RQ338del	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	338					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CGCTCCTGCTGCCGCCGCCGCCG	0.655													9	238	---	---	---	---					
FLT3LG	0	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:49978960_49978962delCTG	ENST00000594009.1	+	2	125_127	c.46_48delCTG	c.(46-48)del	p.L20del	FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000204637.2_5'UTR	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	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													16	749	---	---	---	---					
SCAF1	58506	broad.mit.edu	37	19	50156709	50156711	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:50156709_50156711delGGA	ENST00000360565.3	+	7	3187_3189	c.3063_3065delGGA	c.(3061-3066)gcg>gc	p.AE1021del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1021	Glu-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GAGGTGGGGCggaggaggaggag	0.655													8	83	---	---	---	---					
SYT3	84258	broad.mit.edu	37	19	51135694	51135696	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:51135694_51135696delCTG	ENST00000338916.4	-	2	1154_1156	c.521_523delCAG	c.(520-525)gtg>g	p.AV174del	SYT3_ENST00000593901.1_In_Frame_Del_p.AV174del|SYT3_ENST00000544769.1_In_Frame_Del_p.AV174del|SYT3_ENST00000600079.1_In_Frame_Del_p.AV174del	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	174						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCAGCGGCCACTGCTGCTGCTGC	0.655													8	380	---	---	---	---					
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Frame_Shift_Del	DEL	T	T	-	rs77187934		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:52877717delT	ENST00000597976.1	+	3	325	c.305delT	c.(304-306)atfs	p.I102fs	ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000600321.1_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473													7	48	---	---	---	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gat>ga	p.ED67del	TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	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													32	763	---	---	---	---					
ZBTB45	84878	broad.mit.edu	37	19	59028293	59028295	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:59028293_59028295delCAG	ENST00000594051.1	-	2	1226_1228	c.746_748delCTG	c.(745-750)gac>g	p.AD249del	ZBTB45_ENST00000600990.1_In_Frame_Del_p.AD249del|ZBTB45_ENST00000354590.3_In_Frame_Del_p.AD249del			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CACGCGCTGTCAGCAGCAGCAGT	0.645											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	1893	---	---	---	---					
SLC4A11	83959	broad.mit.edu	37	20	3218308	3218308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:3218308delC	ENST00000380056.3	-	1	65	c.18delG	c.(16-18)ggfs	p.G6fs	SLC4A11_ENST00000380059.3_Intron|SLC4A11_ENST00000539553.1_Intron|SLC4A11_ENST00000474451.1_Intron	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	6					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TGTCTCCCCGCCCCCCGACCT	0.627													8	1225	---	---	---	---					
CSRP2BP	57325	broad.mit.edu	37	20	18142695	18142695	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:18142695delA	ENST00000278816.2	+	6	1564	c.914delA	c.(913-915)gafs	p.E305fs	CSRP2BP_ENST00000377681.2_Frame_Shift_Del_p.E304fs|CSRP2BP_ENST00000435364.2_Frame_Shift_Del_p.E305fs|CSRP2BP_ENST00000489634.2_Frame_Shift_Del_p.E177fs			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	305					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTGATTCTGGAAAAAGGCGAA	0.537													9	1008	---	---	---	---					
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:23345921_23345923delGAG	ENST00000338121.5	+	2	978_980	c.901_903delGAG	c.(901-903)del	p.E306del	GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	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													30	472	---	---	---	---					
BCL2L1	598	broad.mit.edu	37	20	30309591	30309591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:30309591delA	ENST00000307677.4	-	2	841	c.431delT	c.(430-432)tcfs	p.F144fs	BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	144					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GCCGAAGGAGAAAAAGGCCAC	0.542													9	2328	---	---	---	---					
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:30898763_30898765delGAG	ENST00000375712.3	+	2	1350_1352	c.1183_1185delGAG	c.(1183-1185)del	p.E399del	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	399	Poly-Glu.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571													10	285	---	---	---	---					
NFS1	9054	broad.mit.edu	37	20	34262999	34262999	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:34262999delC	ENST00000374092.4	-	8	986	c.916delG	c.(916-918)ctfs	p.A307fs	NFS1_ENST00000540053.1_Frame_Shift_Del_p.A105fs|NFS1_ENST00000397425.1_Frame_Shift_Del_p.A247fs|NFS1_ENST00000374085.1_Frame_Shift_Del_p.A247fs|NFS1_ENST00000541387.1_Frame_Shift_Del_p.A256fs	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	307					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TCACACGCAGCCCCCAGCCCC	0.642													9	780	---	---	---	---					
EMILIN3	90187	broad.mit.edu	37	20	39990829	39990829	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:39990829delC	ENST00000332312.3	-	4	1572	c.1380delG	c.(1378-1380)ggfs	p.G460fs		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	460						proteinaceous extracellular matrix		p.W461fs*31(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCACTCCCCACCCCCCCATGT	0.637													9	1042	---	---	---	---					
CHD6	0	broad.mit.edu	37	20	40033403	40033405	+	In_Frame_Del	DEL	TCT	TCT	-	rs146425509		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:40033403_40033405delTCT	ENST00000373233.3	-	37	8153_8155	c.7976_7978delAGA	c.(7975-7980)aca>a	p.KT2659del	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2659	Poly-Lys.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCCCCCTTTGTCTTCTTCTTCTT	0.586													7	896	---	---	---	---					
HNF4A	3172	broad.mit.edu	37	20	43052773	43052775	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:43052773_43052775delGCT	ENST00000316099.3	+	8	1097_1099	c.1008_1010delGCT	c.(1006-1011)gag>ga	p.EL336del	HNF4A_ENST00000457232.1_In_Frame_Del_p.EL314del|HNF4A_ENST00000443598.2_In_Frame_Del_p.EL336del|HNF4A_ENST00000415691.1_In_Frame_Del_p.EL336del	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	336					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCTTTGGAGAGCTGCTGCTGCTG	0.576													7	241	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTGG	0.545													9	3144	---	---	---	---					
MIR3648	0	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs3052281		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr21:9825838_9825839insGCG	ENST00000581792.1	+	0	7_8					NR_037421.1																						cggccgcgactgcggcggcggt	0.842													15	21	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579													9	57	---	---	---	---					
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr21:46276194_46276196delGCA	ENST00000330938.3	-	4	581_583	c.361_363delTGC	c.(361-363)del	p.C121del	PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000445724.2_Intron	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	121	Poly-Cys.				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616													18	551	---	---	---	---					
HIRA	7290	broad.mit.edu	37	22	19373136	19373138	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr22:19373136_19373138delGCT	ENST00000263208.5	-	12	1491_1493	c.1235_1237delAGC	c.(1234-1239)ctg>c	p.QL412del	HIRA_ENST00000340170.4_In_Frame_Del_p.QL412del|HIRA_ENST00000541063.1_In_Frame_Del_p.QL368del|HIRA_ENST00000546308.1_In_Frame_Del_p.QL368del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	412	Poly-Gln.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTCTGGTCCAGCTGCTGCTGCTG	0.581													8	442	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20918793	20918795	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr22:20918793_20918795delCAG	ENST00000263205.7	+	6	577_579	c.508_510delCAG	c.(508-510)del	p.Q174del	MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	174	Poly-Gln.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagttccagcagcagcagc	0.616											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	241	---	---	---	---					
SREBF2	6721	broad.mit.edu	37	22	42271637	42271637	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr22:42271637delC	ENST00000361204.4	+	7	1461	c.1295delC	c.(1294-1296)tcfs	p.S432fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	432	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTTCTGATGTCCCCCCCAGCC	0.522													7	797	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42605990	42605992	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr22:42605990_42605992delCTG	ENST00000359486.3	-	1	5456_5458	c.5320_5322delCAG	c.(5320-5322)del	p.Q1774del	TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del|TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTGCTCCTTCTGCTGCTGCTGC	0.601													7	731	---	---	---	---					
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	RNA	DEL	C	C	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr22:42898666delC	ENST00000359906.2	+	0	409					NR_027786.1				serine hydrolase-like											endometrium(1)|large_intestine(1)	2						CCATATGGTGCCCCCCCCCCA	0.592													7	77	---	---	---	---					
PPP2R3B	28227	broad.mit.edu	37	X	302075	302075	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:302075delA	ENST00000390665.3	-	9	1160	c.1142delT	c.(1141-1143)tgfs	p.L381fs		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	381					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCAGAGATCAAAAACCAGAC	0.537													7	1946	---	---	---	---					
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386													8	222	---	---	---	---					
RAI2	10742	broad.mit.edu	37	X	17818550	17818550	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:17818550delA	ENST00000545871.1	-	3	2041	c.1581delT	c.(1579-1581)ttfs	p.F527fs	RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	527					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACTTTCTTGGAAAAAAGGTGG	0.333													10	1056	---	---	---	---					
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:21627678_21627680delGAG	ENST00000425654.2	+	19	3025_3027	c.2545_2547delGAG	c.(2545-2547)del	p.E856del	CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886					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													9	181	---	---	---	---					
NUDT11	0	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			10	49	---	---	---	---					
HUWE1	10075	broad.mit.edu	37	X	53589091	53589093	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:53589091_53589093delTCC	ENST00000342160.3	-	53	7774_7776	c.7317_7319delGGA	c.(7315-7320)gaa>ga	p.EE2439del	HUWE1_ENST00000262854.6_In_Frame_Del_p.EE2439del			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2439	Asp-rich.|Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ttcctcatcttcctcctcctcct	0.532													8	165	---	---	---	---					
GNL3L	54552	broad.mit.edu	37	X	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)ggg>gg	p.GK371del	GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	371					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557													7	330	---	---	---	---					
ARMCX3	51566	broad.mit.edu	37	X	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tct>tc	p.SD61del	ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del|ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	61						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517													8	915	---	---	---	---					
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:119694117_119694119delGAG	ENST00000371322.5	-	1	436_438	c.375_377delCTC	c.(373-378)tca>tc	p.SS127del	CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	145	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488													7	206	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:135314194delG	ENST00000316077.9	-	8	1142	c.922delC	c.(922-924)agfs	p.Q308fs	MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACATTCACCTGGGGGGGTGCA	0.532													7	1065	---	---	---	---					
MAGEC1	9947	broad.mit.edu	37	X	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:140994844_140994846delCCT	ENST00000285879.4	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)del	p.P553del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.567										HNSCC(15;0.026)			8	1340	---	---	---	---					
MAGEC1	9947	broad.mit.edu	37	X	140994939	140994940	+	In_Frame_Ins	INS	-	-	CCT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:140994939_140994940insCCT	ENST00000285879.4	+	4	2035_2036	c.1749_1750insCCT	c.(1747-1752)agctca>agCCTctca	p.583_584SS>SLS	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	583							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTCAGAGCCCTCAGGGGGA	0.584										HNSCC(15;0.026)			9	1705	---	---	---	---					
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)aca>ac	p.TT52del	CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552													11	842	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													11	453	---	---	---	---					
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tgc>t	p.SC62del	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562													12	409	---	---	---	---					
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:152087570_152087572delGAG	ENST00000535861.1	+	7	523_525	c.475_477delGAG	c.(475-477)del	p.E165del	ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596													13	119	---	---	---	---					
