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
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000													15	109					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E	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						gcagcagcagcaggaggcggc	0.716000													4	116					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15083616	15083616	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:15083616C>T	ENST00000598504.1	-	4	1466	c.107G>A	c.(106-108)cGc>cAc	p.R36H	SLC1A6_ENST00000544886.2_Missense_Mutation_p.R36H|SLC1A6_ENST00000430939.2_Silent_p.A40A|SLC1A6_ENST00000221742.3_Missense_Mutation_p.R36H|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R36H	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	36					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CAGGCGCGTGCGCAGTGCTCT	0.677000													4	105					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs117285325	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr15:78290635C>T	ENST00000409931.3	-	13	2778	c.2707G>A	c.(2707-2709)Gac>Aac	p.D903N	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	0						intracellular	protein binding|Rab GTPase activator activity	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617000													6	95					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641460	99641460	+	Silent	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr14:99641460A>C	ENST00000345514.2	-	3	1766	c.1500T>G	c.(1498-1500)ggT>ggG	p.G500G	BCL11B_ENST00000443726.2_Silent_p.G377G|BCL11B_ENST00000357195.3_Silent_p.G571G	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	571						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		cgggcACCCCACCACCGCCGT	0.706000			T	TLX3	T-ALL								11	40					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974782	21974782	+	Nonsense_Mutation	SNP	C	C	T	rs138677674		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:21974782C>T	ENST00000304494.5	-	1	315	c.45G>A	c.(43-45)tgG>tgA	p.W15*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	15					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.W15*(3)|p.S12fs*6(1)|p.L16fs*9(1)|p.0(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGTGGCCAGCCAGTCAGCCG	0.756000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			167	91					0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64564293	64564293	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:64564293G>A	ENST00000294066.2	-	21	1571	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S	MAP4K2_ENST00000377350.3_Missense_Mutation_p.P486S	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	494	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CGAGTAACAGGGTGAATCCAG	0.637000													110	229					0	0	1	0	0
DPPA3P2	0	broad.mit.edu	37	14	36841171	36841171	+	RNA	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr14:36841171A>G	ENST00000557188.1	+	0	802																											CTATGCTAGTATAGACTATAC	0.323000													8	195					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73076866	73076866	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:73076866C>T	ENST00000263674.3	+	20	6219	c.5869C>T	c.(5869-5871)Cgg>Tgg	p.R1957W		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1957					actin cytoskeleton organization|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	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGCTGCCCACGGGCACCACT	0.652000													99	215					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2444410	2444410	+	Silent	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:2444410C>T	ENST00000378466.3	-	13	1656	c.1644G>A	c.(1642-1644)ctG>ctA	p.L548L	PANK4_ENST00000435556.3_Silent_p.L509L	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	548					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCTCCCAGCCCAGCGCGTCCA	0.677000													323	624					0	0	1	0	0
SLC6A10P	0	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													4	103					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40363276	40363276	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:40363276C>T	ENST00000221347.6	-	32	14801	c.14794G>A	c.(14794-14796)Gag>Aag	p.E4932K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4932	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCACAGCCTCGCCGTCCACG	0.652000													116	103					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349991	100349991	+	RNA	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:100349991T>C	ENST00000542585.1	+	0	2411				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.S755P(5)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCTCCCCAGAAAA	0.517000													64	1958					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527000													5	204					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:72413896A>G	ENST00000395270.1	+	14	3610	c.2569A>G	c.(2569-2571)Acc>Gcc	p.T857A	POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637000													4	154					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													11	420					0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219500518	219500518	+	Splice_Site	SNP	G	G	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:219500518G>C	ENST00000450993.2	+	14	2235		c.e14-1		PLCD4_ENST00000417849.1_Splice_Site|PLCD4_ENST00000432688.1_Splice_Site	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4						intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCTGACTACAGGTGATCAGCG	0.532000													47	54					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6524291	6524291	+	Missense_Mutation	SNP	G	G	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:6524291G>T	ENST00000361413.3	-	7	1490	c.1132C>A	c.(1132-1134)Ctg>Atg	p.L378M	KIAA0753_ENST00000542606.1_Missense_Mutation_p.L79M|KIAA0753_ENST00000572370.1_Missense_Mutation_p.L79M	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	378						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTTGGTGACAGTTTCTTTTCC	0.373000													17	255					0.00229938	0.00232776	1	1	0
FRG1B	0	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													17	815					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17213029	17213029	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:17213029C>A	ENST00000595618.1	+	2	654	c.502C>A	c.(502-504)Cac>Aac	p.H168N	MYO9B_ENST00000593411.1_3'UTR|MYO9B_ENST00000397274.2_Missense_Mutation_p.H168N|MYO9B_ENST00000594824.1_Missense_Mutation_p.H168N	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	168	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAACCTCAAGCACCGCTTCCT	0.572000													325	320					2.03819e-121	2.21366e-121	1	1	0
ARHGDIB	397	broad.mit.edu	37	12	15095522	15095522	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:15095522G>A	ENST00000228945.4	-	6	684	c.540C>T	c.(538-540)gaC>gaT	p.D180D	ARHGDIB_ENST00000541546.1_Silent_p.D180D|ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Silent_p.D180D	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	180					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GCTTGTCATCGTCGGTGAAGA	0.567000													556	213					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs143365191	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							GACAGCTGCCTTGTGTGGGAC	0.438000													14	276					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													16	243					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101911535	101911535	+	Missense_Mutation	SNP	G	G	A	rs113605875		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:101911535G>A	ENST00000374994.4	+	9	1577	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	TGFBR1_ENST00000552516.1_Missense_Mutation_p.R491Q|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R410Q|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R418Q	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	487	Protein kinase.		R -> P (in LDS1A and LDS2A).|R -> Q (in LDS2A and AAT5).|R -> W (in LDS2A).		activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACAGCATTGCGGATTAAGAAA	0.373000													8	176					0	0	1	0	0
SEMA3B	7869	broad.mit.edu	37	3	50311108	50311108	+	RNA	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:50311108A>G	ENST00000418948.1	+	0	1156							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGGTTGGGGAGGGGGGCAGC	0.701000											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	207					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887686	12887686	+	Silent	SNP	T	T	C	rs59802947	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:12887686T>C	ENST00000535591.1	-	3	366	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	57								p.R57R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468000													25	1502					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699138	48699138	+	Silent	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:48699138C>T	ENST00000544264.1	-	1	1210	c.930G>A	c.(928-930)gcG>gcA	p.A310A	CELSR3_ENST00000164024.4_Silent_p.A310A			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	310					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.A310A(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCCCGGTTCGCCGAGGTTA	0.706000													101	498					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306490	2306490	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:2306490G>A	ENST00000290974.2	-	8	1916	c.1577C>T	c.(1576-1578)tCc>tTc	p.S526F	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S496F|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S456F	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	526					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						AGAGTCCAGGGAAGTGGGCGA	0.667000													161	380					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													24	174					6.21321e-17	6.49023e-17	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53103972	53103972	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:53103972G>A	ENST00000408890.4	+	1	624	c.608G>A	c.(607-609)aGc>aAc	p.S203N		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	203										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GTCTCAGACAGCAAGGGTGGC	0.667000													218	401					0	0	1	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5									p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													12	810					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373000													22	872					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													14	324					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													9	388					0	0	1	0	0
RP11-3P17.4	0	broad.mit.edu	37	3	161147009	161147009	+	RNA	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:161147009A>G	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						CCGAATCAGGATGTTGACCTT	0.438000													8	619					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363000													13	695					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644488	37644488	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:37644488T>C	ENST00000356958.4	-	5	571	c.313A>G	c.(313-315)Aat>Gat	p.N105D	ZNF585A_ENST00000292841.5_Missense_Mutation_p.N50D|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.N50D|ZNF585A_ENST00000355533.2_Missense_Mutation_p.N50D			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTACATTGATTATGGTCCCAT	0.323000													629	599					0	0	1	0	0
WHAMMP3	0	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1																						AGTACTGGAAGAACGTGGTTG	0.373000													4	118					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87564445	87564445	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:87564445G>A	ENST00000398204.4	+	2	513	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ADAM22_ENST00000398209.3_Missense_Mutation_p.E64K|ADAM22_ENST00000398201.4_Missense_Mutation_p.E64K|ADAM22_ENST00000315984.7_Missense_Mutation_p.E64K|ADAM22_ENST00000439864.1_Missense_Mutation_p.E64K|ADAM22_ENST00000265727.7_Missense_Mutation_p.E64K	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	64					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CGGCGAAGACGAAAGTCGGCA	0.687000													92	329					0	0	1	0	0
SOHLH2	54937	broad.mit.edu	37	13	36744857	36744857	+	Silent	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:36744857C>T	ENST00000379881.3	-	10	1156	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	SOHLH2_ENST00000554962.1_Silent_p.A433A|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.A433A	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TCAGAGACAGCGCTGCACTGG	0.388000													300	495					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371009	240371009	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:240371009T>C	ENST00000319653.9	+	5	3127	c.2897T>C	c.(2896-2898)cTt>cCt	p.L966P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	966	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGCATACCCCTTCCTCCCCCT	0.701000													17	339					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278842	36278842	+	Silent	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:36278842A>C	ENST00000007510.4	+	21	3519	c.3375A>C	c.(3373-3375)tcA>tcC	p.S1125S	ARHGAP33_ENST00000314737.5_Silent_p.S964S|ARHGAP33_ENST00000378944.5_Silent_p.S961S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1125					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TTGGCCAATCACCCCCACTCC	0.667000													27	155					0	0	1	0	0
ALG1L13P	0	broad.mit.edu	37	8	8095990	8095990	+	RNA	SNP	C	C	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr8:8095990C>G	ENST00000523017.1	-	0	608																											CCAGGAGCCCCGAGACCTGCA	0.647000													5	23					0	0	1	0	0
DUSP6	1848	broad.mit.edu	37	12	89743153	89743153	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:89743153C>A	ENST00000279488.7	-	3	2255	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y	DUSP6_ENST00000308385.6_Missense_Mutation_p.D196Y|DUSP6_ENST00000547291.1_Missense_Mutation_p.D217Y	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	342	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|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	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CTCTCGAAGTCCAGCAGCTGA	0.478000													269	227					4.83926e-127	5.29092e-127	1	1	0
ADCK5	203054	broad.mit.edu	37	8	145616829	145616829	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr8:145616829G>A	ENST00000308860.6	+	8	892	c.848G>A	c.(847-849)cGc>cAc	p.R283H	ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	283	Protein kinase.			R -> G (in Ref. 2; AAH85013).		integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AATGAGGGCCGCAACGCAGAG	0.677000													3	42					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													9	282					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584387	30584387	+	Silent	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr20:30584387C>T	ENST00000217299.3	+	3	1041	c.867C>T	c.(865-867)gaC>gaT	p.D289D		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	289						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACTCGCGGGACGACAAGCGGC	0.701000													72	197					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974786	21974786	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:21974786T>C	ENST00000304494.5	-	1	311	c.41A>G	c.(40-42)gAc>gGc	p.D14G	CDKN2A_ENST00000498124.1_Missense_Mutation_p.D14G|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D14G|CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D14G|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	14			D -> E (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.S12fs*6(1)|p.0(1)|p.D14V(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGCCAGCCAGTCAGCCGAAGG	0.761000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			162	87					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:21730847G>T	ENST00000584755.1	+	2	546	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522000													6	306					3.09899e-07	3.17646e-07	1	1	0
ARAF	369	broad.mit.edu	37	X	47426043	47426043	+	Missense_Mutation	SNP	G	G	A	rs66933407		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:47426043G>A	ENST00000377045.4	+	7	757	c.563G>A	c.(562-564)cGc>cAc	p.R188H	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	188					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.R188H(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GGCAGCCCCCGCACCCAGCAC	0.622000													71	101					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:7577568C>T	ENST00000420246.2	-	7	845	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000269305.4_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)		GGAACTGTTACACATGTAGTT	0.572000		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)			144	103					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33110585	33110585	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:33110585T>C	ENST00000267068.3	-	2	744	c.580A>G	c.(580-582)Aaa>Gaa	p.K194E	N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.K194E	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	194										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCAGATTCTTTACAACTGTTC	0.299000													147	250					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94006305	94006305	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:94006305G>A	ENST00000282020.4	+	3	662	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	135					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGACTCACCCGGAGCAACAGG	0.537000													220	441					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													16	280					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133327737	133327737	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:133327737G>A	ENST00000260810.5	-	26	4374	c.4243C>T	c.(4243-4245)Ctt>Ttt	p.L1415F		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1415	BRCT 8.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CCTGACTGAAGAAGGCGTTTG	0.368000								Other conserved DNA damage response genes					86	177					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153587767	153587767	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:153587767C>A	ENST00000422373.1	-	25	4398	c.4150G>T	c.(4150-4152)Ggc>Tgc	p.G1384C	FLNA_ENST00000360319.4_Missense_Mutation_p.G1384C|FLNA_ENST00000369850.3_Missense_Mutation_p.G1384C|FLNA_ENST00000344736.4_Missense_Mutation_p.G1384C	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1384					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGCCCGTGCCAGCTCCCCTG	0.647000													554	1076					3.18179e-115	3.43298e-115	1	1	0
UBBP4	0	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547000													8	632					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408000													14	1541					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101870648	101870648	+	Splice_Site	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:101870648A>C	ENST00000360264.3	+	21	3185	c.3163_splice	c.e21-1	p.E1055_splice	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000550008.2_Splice_Site_p.E988_splice|CUX1_ENST00000292535.7_Splice_Site_p.E1044_splice|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000546411.2_Splice_Site_p.E942_splice|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Splice_Site_p.E1022_splice|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Splice_Site_p.E886_splice|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1044					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TAATTACAGAAAGCACTCCAA	0.512000													859	1728					0	0	1	0	0
WDR31	114987	broad.mit.edu	37	9	116093321	116093321	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:116093321G>A	ENST00000374193.4	-	4	438	c.192C>T	c.(190-192)acC>acT	p.T64T	WDR31_ENST00000341761.4_Silent_p.T63T|WDR31_ENST00000374195.3_Intron|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	64										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CGACAGAGACGGTATCCATGT	0.428000													5	311					0	0	1	0	0
COX8C	341947	broad.mit.edu	37	14	93813699	93813699	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr14:93813699G>A	ENST00000342144.2	+	1	163	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	29						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TCCCCGCTTCGCCCACTCGGG	0.756000													6	134					0	0	1	0	0
IGSF8	93185	broad.mit.edu	37	1	160063798	160063798	+	Missense_Mutation	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:160063798A>C	ENST00000368086.1	-	3	822	c.606T>G	c.(604-606)ttT>ttG	p.F202L	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.F202L			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	202	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGATCGCCCAAAGGACACTG	0.637000													189	412					0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205312365	205312365	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:205312365G>A	ENST00000367156.3	-	5	1184	c.368C>T	c.(367-369)aCg>aTg	p.T123M	KLHDC8A_ENST00000539253.1_Missense_Mutation_p.T123M|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.T123M|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000460687.1_Intron	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	123										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCCTTTGGCCGTGACAGAAAT	0.592000													269	516					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111876161	111876161	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr10:111876161A>G	ENST00000277900.8	+	4	844	c.479A>G	c.(478-480)tAt>tGt	p.Y160C	ADD3_ENST00000360162.3_Missense_Mutation_p.Y160C|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000356080.4_Missense_Mutation_p.Y160C	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	160						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GCAAATACCTATATCTCAGTG	0.403000													121	97					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K														p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333000													14	626					8.10497e-08	8.35985e-08	1	1	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													5	170					0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27463908	27463908	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr8:27463908C>T	ENST00000316403.10	-	4	785	c.380G>A	c.(379-381)cGc>cAc	p.R127H	CLU_ENST00000405140.3_Missense_Mutation_p.R127H|CLU_ENST00000546343.1_Missense_Mutation_p.R138H|CLU_ENST00000523500.1_Missense_Mutation_p.R127H|CLU_ENST00000560366.1_Missense_Mutation_p.R179H			P10909	CLUS_HUMAN	clusterin	127					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TCTGCAGACGCGTGCGTAGAA	0.572000													9	625					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95724867	95724867	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:95724867G>A	ENST00000524717.1	-	3	3444	c.2160C>T	c.(2158-2160)ggC>ggT	p.G720G		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	720					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CTGTGTTCTGGCCTACCACAG	0.428000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								136	256					0	0	1	0	0
DLL1	28514	broad.mit.edu	37	6	170597430	170597430	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr6:170597430G>A	ENST00000366756.3	-	4	900	c.567C>T	c.(565-567)tcC>tcT	p.S189S		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	189	DSL.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GGCAGAAAACGGAGCAGCCCT	0.632000													146	166					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23885218	23885218	+	Silent	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr14:23885218A>G	ENST00000355349.3	-	34	5110	c.4948T>C	c.(4948-4950)Ttg>Ctg	p.L1650L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1650					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGTACCTTCAACAAGCTCTGG	0.582000													6	374					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1264405	1264405	+	Missense_Mutation	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:1264405A>C	ENST00000447027.1	+	31	6362	c.6304A>C	c.(6304-6306)Acc>Ccc	p.T2102P	MUC5B_ENST00000529681.1_Missense_Mutation_p.T2099P|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2099	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			A -> P (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCGGGGACCACCCACACCGC	0.632000													14	102					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		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)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								6	244					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393494.2_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													6	202					0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68952619	68952619	+	Splice_Site	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:68952619C>A	ENST00000456315.2	-	6	884		c.e6+1		DEPDC1_ENST00000370966.5_Splice_Site	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1						intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ATTTAACTTACAATTTGCTAG	0.328000													120	275					1.08021e-59	1.15035e-59	1	1	0
BCL11B	64919	broad.mit.edu	37	14	99641455	99641455	+	Missense_Mutation	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr14:99641455A>C	ENST00000345514.2	-	3	1771	c.1505T>G	c.(1504-1506)gTg>gGg	p.V502G	BCL11B_ENST00000443726.2_Missense_Mutation_p.V379G|BCL11B_ENST00000357195.3_Missense_Mutation_p.V573G	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	573						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		gaccccgggcACCCCACCACC	0.711000			T	TLX3	T-ALL								11	49					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	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)			61	27					2.43698e-19	2.56195e-19	1	1	0
PRSS3P2	0	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													10	275					0	0	1	0	0
AC005562.1	0	broad.mit.edu	37	17	28961033	28961033	+	RNA	SNP	T	T	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:28961033T>G	ENST00000417404.1	+	0	1291				LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA																							AGTTCCAGGATATGACTATAA	0.264000													5	145					0	0	1	0	0
MALAT1	0	broad.mit.edu	37	11	65268712	65268712	+	RNA	SNP	T	T	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:65268712T>G	ENST00000534336.1	+	0	3480					NR_002819.2																						TTTGTGGGGGTGGGGGCAAAA	0.393000													37	216					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1																						TGTTTAATTCAGCCTTGGAAG	0.413000													18	569					0	0	1	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G	rs144345425	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478000													6	461					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57573330	57573330	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:57573330G>A	ENST00000243077.3	+	29	5423	c.4957G>A	c.(4957-4959)Gtc>Atc	p.V1653I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1653					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)	GGAGACAGTCGTCTCTGCAGG	0.632000													72	250					0	0	1	0	0
LINC00264	0	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													8	275					0	0	1	0	0
COIL	8161	broad.mit.edu	37	17	55038183	55038183	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:55038183C>G	ENST00000240316.4	-	1	232	c.198G>C	c.(196-198)ttG>ttC	p.L66F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	66						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CGGCGGGGGGCAAGAGCCCCC	0.697000													14	62					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1369										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473000													4	27					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807517	20807517	+	Missense_Mutation	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:20807517A>C	ENST00000601440.1	-	4	1312	c.1166T>G	c.(1165-1167)aTa>aGa	p.I389R	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTATGAATTATCTTATGCGT	0.383000													6	415					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839371	62839371	+	Missense_Mutation	SNP	T	T	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr20:62839371T>A	ENST00000536311.1	+	7	1186	c.822T>A	c.(820-822)gaT>gaA	p.D274E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.D274E			Q01538	MYT1_HUMAN	myelin transcription factor 1	274	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D274_E275delDE(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggatgaagaagagg	0.572000													5	175					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772528	4772528	+	Missense_Mutation	SNP	G	G	A	rs138033447		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:4772528G>A	ENST00000378191.4	+	2	979	c.598G>A	c.(598-600)Gtt>Att	p.V200I	AJAP1_ENST00000378190.3_Missense_Mutation_p.V200I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	200	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ATTTCCGGGCGTTTACGGCCC	0.652000													55	86					0	0	1	0	0
UGT1A4	0	broad.mit.edu	37	2	234627639	234627639	+	Missense_Mutation	SNP	C	C	T	rs141408391		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:234627639C>T	ENST00000373409.3	+	1	216	c.173C>T	c.(172-174)gCg>gTg	p.A58V	UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		GGCCACCAGGCGGTGGTCCTC	0.572000													119	168					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49854844	49854844	+	Missense_Mutation	SNP	G	G	A	rs138935720		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:49854844G>A	ENST00000376088.3	+	13	2457	c.1816G>A	c.(1816-1818)Gtg>Atg	p.V606M	CLCN5_ENST00000376091.3_Missense_Mutation_p.V606M|CLCN5_ENST00000307367.2_Missense_Mutation_p.V536M|CLCN5_ENST00000376108.3_Missense_Mutation_p.V536M	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	536	CBS 1.				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AGAATACATCGTGCCTCTGAT	0.502000													396	717					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33386412	33386412	+	Missense_Mutation	SNP	A	A	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:33386412A>T	ENST00000537089.1	-	4	438	c.120T>A	c.(118-120)agT>agA	p.S40R	AQP7_ENST00000541274.1_Missense_Mutation_p.S40R|AQP7_ENST00000539936.1_Missense_Mutation_p.S132R|AQP7_ENST00000377425.4_Missense_Mutation_p.S75R			O14520	AQP7_HUMAN	aquaporin 7	132					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TGTAGAAGAGACTGTAGATGG	0.577000													4	100					0	0	1	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25138811	25138811	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr10:25138811C>A	ENST00000320152.6	-	9	668	c.640G>T	c.(640-642)Gtc>Ttc	p.V214F	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.R188L	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	214					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TCATTGATGACGCATATGTGC	0.378000													185	217					4.48832e-83	4.81101e-83	1	1	0
MYH13	8735	broad.mit.edu	37	17	10212619	10212619	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:10212619G>A	ENST00000418404.3	-	34	5264	c.5101C>T	c.(5101-5103)Cgg>Tgg	p.R1701W	MYH13_ENST00000252172.4_Missense_Mutation_p.R1701W|MYH13_ENST00000570743.1_Missense_Mutation_p.R1701W			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1701					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGCGGGTCCGCTCCGTCTGT	0.657000													73	144					0	0	1	0	0
NAF1	92345	broad.mit.edu	37	4	164050124	164050124	+	Silent	SNP	T	T	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522000													3	47					0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158750144	158750144	+	Silent	SNP	G	G	A	rs142017503		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr5:158750144G>A	ENST00000231228.2	-	3	737	c.282C>T	c.(280-282)ggC>ggT	p.G94G		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	94	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTAGAACCTCGCCTCCTTTGT	0.478000													119	224					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21986391	21986391	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr8:21986391C>T	ENST00000381418.4	-	2	1773	c.293G>A	c.(292-294)cGc>cAc	p.R98H	HR_ENST00000312841.8_Missense_Mutation_p.R98H	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	98							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTCCTTCCAGCGCAGTCCCTC	0.652000													32	298					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1670184	1670184	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:1670184C>T	ENST00000252804.4	-	10	1143	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	365	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGCCTGTGGCGCTGCACTCC	0.587000													17	98					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111494596	111494596	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:111494596G>A	ENST00000369763.4	-	2	1300	c.910C>T	c.(910-912)Ctt>Ttt	p.L304F	LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ACAGGAACAAGAGATGGCGTA	0.353000													155	315					0	0	1	0	0
FAM86JP	0	broad.mit.edu	37	3	125647570	125647570	+	RNA	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:125647570T>C	ENST00000485843.1	+	0	715					NR_024251.1																						AATCAGGAACTACAAACTGCC	0.428000													4	110					0	0	1	0	0
NR3C2	0	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000342437.4_Intron|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000358102.3_Silent_p.P697P			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527000													14	80					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000													15	109					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E	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						gcagcagcagcaggaggcggc	0.716000													4	116					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21986391	21986391	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr8:21986391C>T	ENST00000381418.4	-	2	1773	c.293G>A	c.(292-294)cGc>cAc	p.R98H	HR_ENST00000312841.8_Missense_Mutation_p.R98H	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	98							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTCCTTCCAGCGCAGTCCCTC	0.652000													32	298					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15083616	15083616	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr19:15083616C>T	ENST00000598504.1	-	4	1466	c.107G>A	c.(106-108)cGc>cAc	p.R36H	SLC1A6_ENST00000221742.3_Missense_Mutation_p.R36H|SLC1A6_ENST00000430939.2_Silent_p.A40A|SLC1A6_ENST00000544886.2_Missense_Mutation_p.R36H|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R36H	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	36					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CAGGCGCGTGCGCAGTGCTCT	0.677000													4	105					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6524291	6524291	+	Missense_Mutation	SNP	G	G	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:6524291G>T	ENST00000361413.3	-	7	1490	c.1132C>A	c.(1132-1134)Ctg>Atg	p.L378M	KIAA0753_ENST00000572370.1_Missense_Mutation_p.L79M|KIAA0753_ENST00000542606.1_Missense_Mutation_p.L79M	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	378						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTTGGTGACAGTTTCTTTTCC	0.373000													17	255					0.00229938	0.00231402	1	1	0
MST1L	0	broad.mit.edu	37	1	17083776	17083776	+	RNA	SNP	C	C	A	rs56318124		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:17083776C>A	ENST00000455405.2	-	0	812																		p.R674L(1)									CACAGAGACACGCGTGAAGAC	0.537000													16	389					1.30998e-17	1.37985e-17	1	1	0
BCL11B	64919	broad.mit.edu	37	14	99641460	99641460	+	Silent	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:99641460A>C	ENST00000345514.2	-	3	1766	c.1500T>G	c.(1498-1500)ggT>ggG	p.G500G	BCL11B_ENST00000357195.3_Silent_p.G571G|BCL11B_ENST00000443726.2_Silent_p.G377G	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	571						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		cgggcACCCCACCACCGCCGT	0.706000			T	TLX3	T-ALL								11	40					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974782	21974782	+	Nonsense_Mutation	SNP	C	C	T	rs138677674		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr9:21974782C>T	ENST00000304494.5	-	1	315	c.45G>A	c.(43-45)tgG>tgA	p.W15*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W15*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	15					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.W15*(3)|p.S12fs*6(1)|p.L16fs*9(1)|p.0(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGTGGCCAGCCAGTCAGCCG	0.756000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			167	91					0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64564293	64564293	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr11:64564293G>A	ENST00000294066.2	-	21	1571	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S	MAP4K2_ENST00000377350.3_Missense_Mutation_p.P486S	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	494	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CGAGTAACAGGGTGAATCCAG	0.637000													110	229					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													26	341					9.78306e-22	1.04441e-21	1	1	0
N4BP2L2	10443	broad.mit.edu	37	13	33110585	33110585	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr13:33110585T>C	ENST00000267068.3	-	2	744	c.580A>G	c.(580-582)Aaa>Gaa	p.K194E	N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.K194E	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	194										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCAGATTCTTTACAACTGTTC	0.299000													147	250					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73076866	73076866	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr11:73076866C>T	ENST00000263674.3	+	20	6219	c.5869C>T	c.(5869-5871)Cgg>Tgg	p.R1957W		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1957					actin cytoskeleton organization|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	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGCTGCCCACGGGCACCACT	0.652000													99	215					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2444410	2444410	+	Silent	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:2444410C>T	ENST00000378466.3	-	13	1656	c.1644G>A	c.(1642-1644)ctG>ctA	p.L548L	PANK4_ENST00000435556.3_Silent_p.L509L	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	548					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCTCCCAGCCCAGCGCGTCCA	0.677000													323	624					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40363276	40363276	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr19:40363276C>T	ENST00000221347.6	-	32	14801	c.14794G>A	c.(14794-14796)Gag>Aag	p.E4932K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4932	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCACAGCCTCGCCGTCCACG	0.652000													116	103					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													16	283					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349991	100349991	+	RNA	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:100349991T>C	ENST00000542585.1	+	0	2411				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.S755P(5)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCTCCCCAGAAAA	0.517000													64	1958					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527000													5	204					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:72413896A>G	ENST00000395270.1	+	14	3610	c.2569A>G	c.(2569-2571)Acc>Gcc	p.T857A	POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637000													4	154					0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219500518	219500518	+	Splice_Site	SNP	G	G	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr2:219500518G>C	ENST00000450993.2	+	14	2235		c.e14-1		PLCD4_ENST00000417849.1_Splice_Site|PLCD4_ENST00000432688.1_Splice_Site	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4						intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCTGACTACAGGTGATCAGCG	0.532000													47	54					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													17	815					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					16	437					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17213029	17213029	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr19:17213029C>A	ENST00000595618.1	+	2	654	c.502C>A	c.(502-504)Cac>Aac	p.H168N	MYO9B_ENST00000593411.1_3'UTR|MYO9B_ENST00000397274.2_Missense_Mutation_p.H168N|MYO9B_ENST00000594824.1_Missense_Mutation_p.H168N	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	168	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAACCTCAAGCACCGCTTCCT	0.572000													325	320					2.03819e-121	2.25198e-121	1	1	0
ARHGDIB	397	broad.mit.edu	37	12	15095522	15095522	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:15095522G>A	ENST00000228945.4	-	6	684	c.540C>T	c.(538-540)gaC>gaT	p.D180D	ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541546.1_Silent_p.D180D|ARHGDIB_ENST00000541644.1_Silent_p.D180D	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	180					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GCTTGTCATCGTCGGTGAAGA	0.567000													556	213					0	0	1	0	0
IGHV4-61	0	broad.mit.edu	37	14	107095544	107095544	+	RNA	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:107095544G>A	ENST00000390630.2	-	0	118																											GGAGGAGGAAGAACCACAGGT	0.527000													8	366					0	0	1	0	0
SEMA3B	7869	broad.mit.edu	37	3	50311108	50311108	+	RNA	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:50311108A>G	ENST00000418948.1	+	0	1156							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGGTTGGGGAGGGGGGCAGC	0.701000											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	207					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699138	48699138	+	Silent	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:48699138C>T	ENST00000544264.1	-	1	1210	c.930G>A	c.(928-930)gcG>gcA	p.A310A	CELSR3_ENST00000164024.4_Silent_p.A310A			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	310					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.A310A(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCCCGGTTCGCCGAGGTTA	0.706000													101	498					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306490	2306490	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:2306490G>A	ENST00000290974.2	-	8	1916	c.1577C>T	c.(1576-1578)tCc>tTc	p.S526F	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S456F|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S496F	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	526					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						AGAGTCCAGGGAAGTGGGCGA	0.667000													161	380					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103972	53103972	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:53103972G>A	ENST00000408890.4	+	1	624	c.608G>A	c.(607-609)aGc>aAc	p.S203N		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	203										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GTCTCAGACAGCAAGGGTGGC	0.667000													218	401					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837973	29837973	+	Silent	SNP	T	T	C	rs61731583		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr22:29837973T>C	ENST00000354373.2	+	2	1025	c.816T>C	c.(814-816)agT>agC	p.S272S	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	272	B30.2/SPRY.						zinc ion binding	p.S272S(1)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CATTCAGGAGTGTCTCTGCTG	0.473000													9	447					0	0	1	0	0
IGHV4-61	0	broad.mit.edu	37	14	107095556	107095556	+	RNA	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:107095556T>C	ENST00000390630.2	-	0	106																											ACCACAGGTGTTTCATGTTCT	0.532000													8	339					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													11	852					0	0	1	0	0
RP11-3P17.4	0	broad.mit.edu	37	3	161147009	161147009	+	RNA	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:161147009A>G	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						CCGAATCAGGATGTTGACCTT	0.438000													8	619					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644488	37644488	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr19:37644488T>C	ENST00000356958.4	-	5	571	c.313A>G	c.(313-315)Aat>Gat	p.N105D	ZNF585A_ENST00000355533.2_Missense_Mutation_p.N50D|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.N50D|ZNF585A_ENST00000292841.5_Missense_Mutation_p.N50D			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTACATTGATTATGGTCCCAT	0.323000													629	599					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977359	29977359	+	RNA	SNP	G	G	A	rs3831361	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr6:29977359G>A	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA																							ATTTGTTCATGCCTTCCCTTT	0.453000													31	215					0	0	1	0	0
RPL32P3	0	broad.mit.edu	37	3	129116292	129116292	+	RNA	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:129116292A>C	ENST00000514355.1	-	0	412																				lung(1)	1						AGCAAATCCCACCCTGCCAGT	0.512000													36	450					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87564445	87564445	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:87564445G>A	ENST00000398204.4	+	2	513	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ADAM22_ENST00000398209.3_Missense_Mutation_p.E64K|ADAM22_ENST00000315984.7_Missense_Mutation_p.E64K|ADAM22_ENST00000439864.1_Missense_Mutation_p.E64K|ADAM22_ENST00000265727.7_Missense_Mutation_p.E64K|ADAM22_ENST00000398201.4_Missense_Mutation_p.E64K	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	64					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CGGCGAAGACGAAAGTCGGCA	0.687000													92	329					0	0	1	0	0
SOHLH2	54937	broad.mit.edu	37	13	36744857	36744857	+	Silent	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr13:36744857C>T	ENST00000379881.3	-	10	1156	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	SOHLH2_ENST00000554962.1_Silent_p.A433A|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.A433A	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TCAGAGACAGCGCTGCACTGG	0.388000													300	495					0	0	1	0	0
DPPA3P2	0	broad.mit.edu	37	14	36841171	36841171	+	RNA	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:36841171A>G	ENST00000557188.1	+	0	802																											CTATGCTAGTATAGACTATAC	0.323000													8	195					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278842	36278842	+	Silent	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr19:36278842A>C	ENST00000007510.4	+	21	3519	c.3375A>C	c.(3373-3375)tcA>tcC	p.S1125S	ARHGAP33_ENST00000314737.5_Silent_p.S964S|ARHGAP33_ENST00000378944.5_Silent_p.S961S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1125					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TTGGCCAATCACCCCCACTCC	0.667000													27	155					0	0	1	0	0
DUSP6	1848	broad.mit.edu	37	12	89743153	89743153	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:89743153C>A	ENST00000279488.7	-	3	2255	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y	DUSP6_ENST00000547291.1_Missense_Mutation_p.D217Y|DUSP6_ENST00000308385.6_Missense_Mutation_p.D196Y	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	342	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|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	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CTCTCGAAGTCCAGCAGCTGA	0.478000													269	227					4.83926e-127	5.38453e-127	1	1	0
COX8C	341947	broad.mit.edu	37	14	93813699	93813699	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:93813699G>A	ENST00000342144.2	+	1	163	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	29						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TCCCCGCTTCGCCCACTCGGG	0.756000													6	134					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584387	30584387	+	Silent	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr20:30584387C>T	ENST00000217299.3	+	3	1041	c.867C>T	c.(865-867)gaC>gaT	p.D289D		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	289						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACTCGCGGGACGACAAGCGGC	0.701000													72	197					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974786	21974786	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr9:21974786T>C	ENST00000304494.5	-	1	311	c.41A>G	c.(40-42)gAc>gGc	p.D14G	CDKN2A_ENST00000579122.1_Missense_Mutation_p.D14G|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D14G|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D14G|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	14			D -> E (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.S12fs*6(1)|p.0(1)|p.D14V(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGCCAGCCAGTCAGCCGAAGG	0.761000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			162	87					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:21730847G>T	ENST00000584755.1	+	2	546	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522000													6	306					3.09899e-07	3.13872e-07	1	1	0
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:82784471A>G	ENST00000423517.2	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000333891.8_Missense_Mutation_p.S496P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	442	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S496P(6)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607000													32	1223					0	0	1	0	0
ARAF	369	broad.mit.edu	37	X	47426043	47426043	+	Missense_Mutation	SNP	G	G	A	rs66933407		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:47426043G>A	ENST00000377045.4	+	7	757	c.563G>A	c.(562-564)cGc>cAc	p.R188H	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	188					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.R188H(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GGCAGCCCCCGCACCCAGCAC	0.622000													71	101					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:7577568C>T	ENST00000420246.2	-	7	845	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000269305.4_Missense_Mutation_p.C238Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)		GGAACTGTTACACATGTAGTT	0.572000		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)			144	103					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133327737	133327737	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:133327737G>A	ENST00000260810.5	-	26	4374	c.4243C>T	c.(4243-4245)Ctt>Ttt	p.L1415F		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1415	BRCT 8.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CCTGACTGAAGAAGGCGTTTG	0.368000								Other conserved DNA damage response genes					86	177					0	0	1	0	0
NCOR1P1	0	broad.mit.edu	37	20	26084296	26084296	+	RNA	SNP	A	A	G	rs61752037	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr20:26084296A>G	ENST00000478176.1	-	0	161					NR_003678.1													p.F40F(1)									GTTTGCCTCCAAATGCTGGAT	0.378000													12	245					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153587767	153587767	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:153587767C>A	ENST00000422373.1	-	25	4398	c.4150G>T	c.(4150-4152)Ggc>Tgc	p.G1384C	FLNA_ENST00000344736.4_Missense_Mutation_p.G1384C|FLNA_ENST00000360319.4_Missense_Mutation_p.G1384C|FLNA_ENST00000369850.3_Missense_Mutation_p.G1384C	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1384					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGCCCGTGCCAGCTCCCCTG	0.647000													554	1076					1.17611e-120	1.29045e-120	1	1	0
UBBP4	0	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron														p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547000													8	632					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408000													14	1541					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101870648	101870648	+	Splice_Site	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:101870648A>C	ENST00000360264.3	+	21	3185	c.3163_splice	c.e21-1	p.E1055_splice	CUX1_ENST00000437600.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Splice_Site_p.E942_splice|CUX1_ENST00000556210.1_Splice_Site_p.E886_splice|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Splice_Site_p.E988_splice|CUX1_ENST00000549414.2_Splice_Site_p.E1022_splice|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Splice_Site_p.E1044_splice	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1044					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TAATTACAGAAAGCACTCCAA	0.512000													859	1728					0	0	1	0	0
WDR31	114987	broad.mit.edu	37	9	116093321	116093321	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr9:116093321G>A	ENST00000374193.4	-	4	438	c.192C>T	c.(190-192)acC>acT	p.T64T	WDR31_ENST00000374195.3_Intron|WDR31_ENST00000341761.4_Silent_p.T63T|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	64										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CGACAGAGACGGTATCCATGT	0.428000													5	311					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													9	282					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					17	433					0	0	1	0	0
IGSF8	93185	broad.mit.edu	37	1	160063798	160063798	+	Missense_Mutation	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:160063798A>C	ENST00000368086.1	-	3	822	c.606T>G	c.(604-606)ttT>ttG	p.F202L	IGSF8_ENST00000314485.7_Missense_Mutation_p.F202L|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	202	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGATCGCCCAAAGGACACTG	0.637000													189	412					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977358	29977358	+	RNA	SNP	T	T	C	rs146982767	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr6:29977358T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA																							GATTTGTTCATGCCTTCCCTT	0.448000													33	218					0	0	1	0	0
IGHV4OR15-8	0	broad.mit.edu	37	15	22473194	22473194	+	RNA	SNP	G	G	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr15:22473194G>C	ENST00000557788.2	-	0	76																											TCCTGGGCCCGACTCCTGCAG	0.617000													11	1064					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57876368	57876368	+	Splice_Site	SNP	T	T	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:57876368T>G	ENST00000510355.1	+	1	28		c.e1+2		POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000441246.2_Intron|POLR2B_ENST00000314595.5_Intron|POLR2B_ENST00000381227.1_Intron			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa						mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AAGTGGCAGGTAAGTTAAAGT	0.353000													13	88					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111876161	111876161	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr10:111876161A>G	ENST00000277900.8	+	4	844	c.479A>G	c.(478-480)tAt>tGt	p.Y160C	ADD3_ENST00000356080.4_Missense_Mutation_p.Y160C|ADD3_ENST00000360162.3_Missense_Mutation_p.Y160C|ADD3_ENST00000497125.1_3'UTR	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	160						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GCAAATACCTATATCTCAGTG	0.403000													121	97					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K														p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333000													14	626					8.10497e-08	8.26184e-08	1	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													27	344					0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27463908	27463908	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr8:27463908C>T	ENST00000316403.10	-	4	785	c.380G>A	c.(379-381)cGc>cAc	p.R127H	CLU_ENST00000405140.3_Missense_Mutation_p.R127H|CLU_ENST00000546343.1_Missense_Mutation_p.R138H|CLU_ENST00000523500.1_Missense_Mutation_p.R127H|CLU_ENST00000560366.1_Missense_Mutation_p.R179H			P10909	CLUS_HUMAN	clusterin	127					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TCTGCAGACGCGTGCGTAGAA	0.572000													9	625					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95724867	95724867	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr11:95724867G>A	ENST00000524717.1	-	3	3444	c.2160C>T	c.(2158-2160)ggC>ggT	p.G720G		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	720					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CTGTGTTCTGGCCTACCACAG	0.428000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								136	256					0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205312365	205312365	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:205312365G>A	ENST00000367156.3	-	5	1184	c.368C>T	c.(367-369)aCg>aTg	p.T123M	KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.T123M|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.T123M	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	123										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCCTTTGGCCGTGACAGAAAT	0.592000													269	516					0	0	1	0	0
DLL1	28514	broad.mit.edu	37	6	170597430	170597430	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr6:170597430G>A	ENST00000366756.3	-	4	900	c.567C>T	c.(565-567)tcC>tcT	p.S189S		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	189	DSL.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GGCAGAAAACGGAGCAGCCCT	0.632000													146	166					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1264405	1264405	+	Missense_Mutation	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr11:1264405A>C	ENST00000447027.1	+	31	6362	c.6304A>C	c.(6304-6306)Acc>Ccc	p.T2102P	MUC5B_ENST00000529681.1_Missense_Mutation_p.T2099P|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2099	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			A -> P (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCGGGGACCACCCACACCGC	0.632000													14	102					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr21:11058168A>T	ENST00000470054.1	-	0	479									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)		TACATCTTTCAGGAGCTTGGT	0.388000													17	451					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94006305	94006305	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:94006305G>A	ENST00000282020.4	+	3	662	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	135					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGACTCACCCGGAGCAACAGG	0.537000													220	441					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000393489.3_Silent_p.Q87Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q			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													6	202					0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68952619	68952619	+	Splice_Site	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:68952619C>A	ENST00000456315.2	-	6	884		c.e6+1		DEPDC1_ENST00000370966.5_Splice_Site	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1						intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ATTTAACTTACAATTTGCTAG	0.328000													120	275					1.08021e-59	1.16899e-59	1	1	0
BCL11B	64919	broad.mit.edu	37	14	99641455	99641455	+	Missense_Mutation	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:99641455A>C	ENST00000345514.2	-	3	1771	c.1505T>G	c.(1504-1506)gTg>gGg	p.V502G	BCL11B_ENST00000357195.3_Missense_Mutation_p.V573G|BCL11B_ENST00000443726.2_Missense_Mutation_p.V379G	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	573						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		gaccccgggcACCCCACCACC	0.711000			T	TLX3	T-ALL								11	49					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													10	275					0	0	1	0	0
AC005562.1	0	broad.mit.edu	37	17	28961033	28961033	+	RNA	SNP	T	T	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:28961033T>G	ENST00000417404.1	+	0	1291				SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA																							AGTTCCAGGATATGACTATAA	0.264000													5	145					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57573330	57573330	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:57573330G>A	ENST00000243077.3	+	29	5423	c.4957G>A	c.(4957-4959)Gtc>Atc	p.V1653I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1653					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)	GGAGACAGTCGTCTCTGCAGG	0.632000													72	250					0	0	1	0	0
COIL	8161	broad.mit.edu	37	17	55038183	55038183	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:55038183C>G	ENST00000240316.4	-	1	232	c.198G>C	c.(196-198)ttG>ttC	p.L66F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	66						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CGGCGGGGGGCAAGAGCCCCC	0.697000													14	62					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807517	20807517	+	Missense_Mutation	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr19:20807517A>C	ENST00000601440.1	-	4	1312	c.1166T>G	c.(1165-1167)aTa>aGa	p.I389R	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTATGAATTATCTTATGCGT	0.383000													6	415					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839371	62839371	+	Missense_Mutation	SNP	T	T	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr20:62839371T>A	ENST00000536311.1	+	7	1186	c.822T>A	c.(820-822)gaT>gaA	p.D274E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.D274E			Q01538	MYT1_HUMAN	myelin transcription factor 1	274	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D274_E275delDE(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggatgaagaagagg	0.572000													5	175					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772528	4772528	+	Missense_Mutation	SNP	G	G	A	rs138033447		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:4772528G>A	ENST00000378191.4	+	2	979	c.598G>A	c.(598-600)Gtt>Att	p.V200I	AJAP1_ENST00000378190.3_Missense_Mutation_p.V200I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	200	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ATTTCCGGGCGTTTACGGCCC	0.652000													55	86					0	0	1	0	0
UGT1A4	0	broad.mit.edu	37	2	234627639	234627639	+	Missense_Mutation	SNP	C	C	T	rs141408391		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr2:234627639C>T	ENST00000373409.3	+	1	216	c.173C>T	c.(172-174)gCg>gTg	p.A58V	UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		GGCCACCAGGCGGTGGTCCTC	0.572000													119	168					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102304896	102304896	+	RNA	SNP	C	C	G	rs145942024	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr15:102304896C>G	ENST00000561463.1	+	0	12942																											GAAGACACTCCTGGAGGAGTC	0.562000													4	130					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49854844	49854844	+	Missense_Mutation	SNP	G	G	A	rs138935720		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:49854844G>A	ENST00000376088.3	+	13	2457	c.1816G>A	c.(1816-1818)Gtg>Atg	p.V606M	CLCN5_ENST00000307367.2_Missense_Mutation_p.V536M|CLCN5_ENST00000376108.3_Missense_Mutation_p.V536M|CLCN5_ENST00000376091.3_Missense_Mutation_p.V606M	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	536	CBS 1.				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AGAATACATCGTGCCTCTGAT	0.502000													396	717					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33386412	33386412	+	Missense_Mutation	SNP	A	A	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr9:33386412A>T	ENST00000537089.1	-	4	438	c.120T>A	c.(118-120)agT>agA	p.S40R	AQP7_ENST00000539936.1_Missense_Mutation_p.S132R|AQP7_ENST00000541274.1_Missense_Mutation_p.S40R|AQP7_ENST00000377425.4_Missense_Mutation_p.S75R			O14520	AQP7_HUMAN	aquaporin 7	132					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TGTAGAAGAGACTGTAGATGG	0.577000													4	100					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	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													7	319					0	0	1	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25138811	25138811	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr10:25138811C>A	ENST00000320152.6	-	9	668	c.640G>T	c.(640-642)Gtc>Ttc	p.V214F	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.R188L	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	214					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TCATTGATGACGCATATGTGC	0.378000													185	217					4.48832e-83	4.89073e-83	1	1	0
MYH13	8735	broad.mit.edu	37	17	10212619	10212619	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:10212619G>A	ENST00000418404.3	-	34	5264	c.5101C>T	c.(5101-5103)Cgg>Tgg	p.R1701W	MYH13_ENST00000252172.4_Missense_Mutation_p.R1701W|MYH13_ENST00000570743.1_Missense_Mutation_p.R1701W			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1701					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGCGGGTCCGCTCCGTCTGT	0.657000													73	144					0	0	1	0	0
NAF1	92345	broad.mit.edu	37	4	164050124	164050124	+	Silent	SNP	T	T	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522000													3	47					0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158750144	158750144	+	Silent	SNP	G	G	A	rs142017503		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr5:158750144G>A	ENST00000231228.2	-	3	737	c.282C>T	c.(280-282)ggC>ggT	p.G94G		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	94	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTAGAACCTCGCCTCCTTTGT	0.478000													119	224					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1670184	1670184	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr2:1670184C>T	ENST00000252804.4	-	10	1143	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	365	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGCCTGTGGCGCTGCACTCC	0.587000													17	98					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111494596	111494596	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:111494596G>A	ENST00000369763.4	-	2	1300	c.910C>T	c.(910-912)Ctt>Ttt	p.L304F	LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ACAGGAACAAGAGATGGCGTA	0.353000													155	315					0	0	1	0	0
FAM86JP	0	broad.mit.edu	37	3	125647570	125647570	+	RNA	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:125647570T>C	ENST00000485843.1	+	0	715					NR_024251.1																						AATCAGGAACTACAAACTGCC	0.428000													4	110					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23240246	23240246	+	Frame_Shift_Del	DEL	A	A	-	rs56871920		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:23240246delA	ENST00000400191.3	+	17	3069	c.3051delA	c.(3049-3051)ggfs	p.G1017fs	EPHB2_ENST00000374632.3_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	1017					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAAACGACGGAAAAAAAAAGG	0.498													7	116	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													16	1448	---	---	---	---					
PEF1	553115	broad.mit.edu	37	1	32100889	32100890	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:32100889_32100890insG	ENST00000373703.4	-	2	280_281	c.258_259insC	c.(256-261)ccggggfs	p.PG86fs	PEF1_ENST00000492061.1_5'UTR|PEF1_ENST00000440872.2_Frame_Shift_Ins_p.PG86fs	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	86	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		TAGGGGCCCCCGGGAGCTGCAC	0.604													16	525	---	---	---	---					
DLGAP3	58512	broad.mit.edu	37	1	35365852	35365852	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:35365852delC	ENST00000373347.1	-	4	1398	c.1130delG	c.(1129-1131)gtfs	p.G377fs	DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.G377fs			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	377					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGTGGGGTAACCCCCCCAGTC	0.602													8	892	---	---	---	---					
ZMYM4	9202	broad.mit.edu	37	1	35846959	35846960	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:35846959_35846960insA	ENST00000314607.6	+	8	1361_1362	c.1281_1282insA	c.(1279-1284)ctaaaafs	p.LK427fs	ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.LK427fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	427					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATATGAACTGAAAAAAAAACC	0.342													12	486	---	---	---	---					
BMP8A	353500	broad.mit.edu	37	1	39988692	39988692	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:39988692delC	ENST00000331593.5	+	6	1308	c.962delC	c.(961-963)gcfs	p.A321fs	RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	321					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-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;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGGTCATCGCCCCCCAAGGC	0.642													8	1419	---	---	---	---					
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													18	1301	---	---	---	---					
ZMPSTE24	10269	broad.mit.edu	37	1	40735757	40735757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:40735757delT	ENST00000372759.3	+	5	750	c.585delT	c.(583-585)tafs	p.Y195fs		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	195						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GGGGTGACTATTTTTTTATTT	0.333													8	1516	---	---	---	---					
HIVEP3	59269	broad.mit.edu	37	1	42050222	42050222	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:42050222delT	ENST00000372584.1	-	3	1261	c.247delA	c.(247-249)ggfs	p.R83fs	HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.R83fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.R83fs|HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.R83fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	83					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ATGGGGGGCCTTTTGGGGGGC	0.617													8	1672	---	---	---	---					
SLC6A9	6536	broad.mit.edu	37	1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aafs	p.K4fs	SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000492434.2_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627													7	2253	---	---	---	---					
POMGNT1	55624	broad.mit.edu	37	1	46658575	46658575	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:46658575delA	ENST00000371992.1	-	14	1858	c.1208delT	c.(1207-1209)tcfs	p.F403fs	POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000371984.3_Frame_Shift_Del_p.F403fs|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000535522.1_Frame_Shift_Del_p.F381fs|POMGNT1_ENST00000371986.3_Frame_Shift_Del_p.F403fs	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	403					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CCCTCACCTGAAAAAATCCAC	0.522													7	2460	---	---	---	---					
DAB1	1600	broad.mit.edu	37	1	57537235	57537235	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:57537235delT	ENST00000371236.2	-	6	781	c.518delA	c.(517-519)agfs	p.K173fs	DAB1_ENST00000371230.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371231.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371234.4_Frame_Shift_Del_p.K173fs|DAB1_ENST00000420954.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000414851.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	173	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTTTGTGCCTTTTTTTCTAA	0.393													8	461	---	---	---	---					
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:74575212_74575213insT	ENST00000354431.4	-	5	923_924	c.732_733insA	c.(730-735)aaagcafs	p.A245fs	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621).						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													23	532	---	---	---	---					
TYW3	127253	broad.mit.edu	37	1	75229742	75229744	+	In_Frame_Del	DEL	ATG	ATG	-	rs112765232		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:75229742_75229744delATG	ENST00000370867.3	+	6	814_816	c.725_727delATG	c.(724-729)aat>a	p.ND242del	TYW3_ENST00000457880.2_In_Frame_Del_p.ND209del|TYW3_ENST00000421739.2_In_Frame_Del_p.ND158del|TYW3_ENST00000479111.1_3'UTR	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	242					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GAACTTGAAAATGATGATGATGA	0.330													8	659	---	---	---	---					
SPATA1	100505741	broad.mit.edu	37	1	84988200	84988201	+	RNA	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:84988200_84988201insT	ENST00000370638.2	+	0	526									spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		GGTAAGTTTTCTTTTTTTTTCT	0.327													8	350	---	---	---	---					
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:85736511delT	ENST00000370580.1	-	2	873	c.136delA	c.(136-138)tafs	p.I46fs		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	46	CARD.				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	p.I46fs*4(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT								11	673	---	---	---	---					
ZNF644	84146	broad.mit.edu	37	1	91406039	91406040	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:91406039_91406040insT	ENST00000370440.1	-	3	1088_1089	c.871_872insA	c.(871-873)aaafs	p.K291fs	ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCGCTTTCTTTTTTTTTCT	0.337													7	387	---	---	---	---					
TRIM33	51592	broad.mit.edu	37	1	114968116	114968118	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:114968116_114968118delTGT	ENST00000358465.2	-	9	1731_1733	c.1648_1650delACA	c.(1648-1650)del	p.T550del	TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del|TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	550	Poly-Thr.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGCTGTTGTGTTGTTGTTGTT	0.429			T	RET	papillary thyroid								9	1680	---	---	---	---					
SYCP1	6847	broad.mit.edu	37	1	115537600	115537601	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:115537600_115537601insA	ENST00000369522.3	+	32	3131_3132	c.2891_2892insA	c.(2890-2892)aaafs	p.K964fs	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K964fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	964	Arg/Lys-rich (basic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAATGGATAGAAAAAAAAAAC	0.356													24	553	---	---	---	---					
ANKRD20A12P	0	broad.mit.edu	37	1	142716575	142716578	+	RNA	DEL	AAAC	AAAC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:142716575_142716578delAAAC	ENST00000595144.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422													12	655	---	---	---	---					
PDE4DIP	9659	broad.mit.edu	37	1	144923716	144923716	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:144923716delT	ENST00000529945.1	-	2	1670	c.1231delA	c.(1231-1233)tcfs	p.I411fs	PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.I385fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.I248fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.I385fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Del_p.I248fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.I314fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.I248fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Del_p.I248fs|PDE4DIP_ENST00000313431.9_Frame_Shift_Del_p.I411fs|PDE4DIP_ENST00000479408.2_Frame_Shift_Del_p.I35fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	248					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTTGCTGGATTTTTTCCTGG	0.453			T	PDGFRB	MPD								7	1730	---	---	---	---					
PVRL4	81607	broad.mit.edu	37	1	161044057	161044059	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:161044057_161044059delCAC	ENST00000368012.3	-	6	1407_1409	c.1105_1107delGTG	c.(1105-1107)del	p.V369del	PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	369					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGGACATGAGCACCACCACCACC	0.571													7	572	---	---	---	---					
NR1I3	0	broad.mit.edu	37	1	161202999	161203000	+	Frame_Shift_Ins	INS	-	-	G	rs139473535	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:161202999_161203000insG	ENST00000367983.4	-	4	661_662	c.367_368insC	c.(367-369)ccafs	p.P123fs	NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	123					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCCATGTGGCGGGTGTGGGCC	0.564													9	1332	---	---	---	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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													8	517	---	---	---	---					
TMCO1	54499	broad.mit.edu	37	1	165712550	165712551	+	Splice_Site	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:165712550_165712551insA	ENST00000367881.5	-	6	752		c.e6-2		TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381													7	406	---	---	---	---					
GPR161	23432	broad.mit.edu	37	1	168054869	168054869	+	Frame_Shift_Del	DEL	C	C	-	rs147976800	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:168054869delC	ENST00000367838.1	-	8	1803	c.1490delG	c.(1489-1491)gcfs	p.G498fs	GPR161_ENST00000367835.1_Frame_Shift_Del_p.G498fs|GPR161_ENST00000539777.1_Frame_Shift_Del_p.G420fs|GPR161_ENST00000537209.1_Frame_Shift_Del_p.G518fs|GPR161_ENST00000271357.5_Frame_Shift_Del_p.G498fs|GPR161_ENST00000546300.1_Frame_Shift_Del_p.G384fs|GPR161_ENST00000367836.1_Frame_Shift_Del_p.G366fs|GPR161_ENST00000361697.2_Frame_Shift_Del_p.G498fs	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	498					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G497fs*13(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCGAAGCCGCCCCCCGGGAC	0.582													7	1463	---	---	---	---					
GPR25	2848	broad.mit.edu	37	1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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													8	189	---	---	---	---					
REN	5972	broad.mit.edu	37	1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-	rs142739309		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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	679	---	---	---	---					
EPHX1	2052	broad.mit.edu	37	1	226026384	226026384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:226026384delC	ENST00000366837.4	+	4	590	c.394delC	c.(394-396)ccfs	p.P133fs	EPHX1_ENST00000272167.5_Frame_Shift_Del_p.P133fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	133					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CCACGTGAAGCCCCCCCAGCT	0.627													7	1400	---	---	---	---					
PARP1	142	broad.mit.edu	37	1	226570820	226570820	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:226570820delG	ENST00000366794.5	-	8	1219	c.1076delC	c.(1075-1077)cafs	p.P359fs		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	359					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCTGGTTTCTGGGGGGAATAT	0.502								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					10	2316	---	---	---	---					
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)cafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308													7	487	---	---	---	---					
RYR2	6262	broad.mit.edu	37	1	237969494	237969494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:237969494delT	ENST00000366574.2	+	99	14526	c.14209delT	c.(14209-14211)ttfs	p.F4739fs	RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4739					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTATAACAACTTTTTTTTTGC	0.403													12	306	---	---	---	---					
ITSN2	50618	broad.mit.edu	37	2	24533400	24533401	+	Frame_Shift_Ins	INS	-	-	G	rs138525854	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:24533400_24533401insG	ENST00000355123.4	-	6	956_957	c.513_514insC	c.(511-516)acccagfs	p.Q172fs	ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.Q172fs|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.Q172fs	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	172					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAGACTGGCGGTTCCATTTG	0.411													19	614	---	---	---	---					
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaa>ga	p.EE493del		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													10	925	---	---	---	---					
FAM98A	25940	broad.mit.edu	37	2	33813402	33813402	+	Splice_Site	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:33813402delT	ENST00000403368.1	-	4	591	c.522_splice	c.e4+1	p.K174_splice	FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000238823.8_Splice_Site_p.K174_splice|FAM98A_ENST00000441530.2_Intron	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	175										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					AAGGTCTTACTTTTTTTTCAA	0.338													9	801	---	---	---	---					
RTN4	57142	broad.mit.edu	37	2	55253745	55253746	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:55253745_55253746insT	ENST00000337526.6	-	3	1732_1733	c.1489_1490insA	c.(1489-1491)agafs	p.R497fs	RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	497					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CTTTTCTTCTATTTTTTTTTCA	0.381													13	531	---	---	---	---					
AC007092.1	0	broad.mit.edu	37	2	58688842	58688843	+	RNA	DEL	CT	CT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:58688842_58688843delCT	ENST00000452840.1	+	0	127																											TCTCTGCTAGCTCTCTCTCTCT	0.465													7	321	---	---	---	---					
AFTPH	54812	broad.mit.edu	37	2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)del	p.D26del	AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409													8	819	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91887904	91887905	+	RNA	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:91887904_91887905insT	ENST00000436174.1	-	0	540																											AGCTATTTTCCATTTTTTTTTT	0.292													7	288	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292													13	284	---	---	---	---					
ANKRD20A8P	0	broad.mit.edu	37	2	95513688	95513689	+	RNA	INS	-	-	TA			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:95513688_95513689insTA	ENST00000432432.2	-	0	850					NR_040113.1																						CTCACCTAATGTATAAGATGGA	0.327													26	611	---	---	---	---					
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393													11	1480	---	---	---	---					
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:109087883_109087884insA	ENST00000309863.6	+	6	2812_2813	c.2098_2099insA	c.(2098-2100)aaafs	p.K700fs		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307													14	1557	---	---	---	---					
ACVR2A	92	broad.mit.edu	37	2	148683685	148683686	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:148683685_148683686insA	ENST00000241416.7	+	10	1938_1939	c.1302_1303insA	c.(1300-1305)caaaaafs	p.QK434fs	ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Frame_Shift_Ins_p.QK326fs|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.QK434fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	434	Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTGTTGTGCATAAAAAAAAGAG	0.366													10	703	---	---	---	---					
CIR1	9541	broad.mit.edu	37	2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)acafs	p.T289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381													8	330	---	---	---	---					
SLC4A3	6508	broad.mit.edu	37	2	220496799	220496801	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:220496799_220496801delGAA	ENST00000358055.3	+	7	1433_1435	c.921_923delGAA	c.(919-924)agg>ag	p.RK307del	SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	307					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTCGCAGGAAGAAGAAGAAG	0.650													8	499	---	---	---	---					
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:5248941delT	ENST00000256497.4	+	7	1454	c.1321delT	c.(1321-1323)ttfs	p.F442fs	EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	442					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463													7	914	---	---	---	---					
AC034193.5	0	broad.mit.edu	37	3	10035779	10035783	+	RNA	DEL	AGTCT	AGTCT	-	rs35714562		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:10035779_10035783delAGTCT	ENST00000326237.3	+	0	354																											GGGGAAGAGAAGTCTGATCTGACAT	0.380													21	289	---	---	---	---					
AC022007.5	0	broad.mit.edu	37	3	10049093	10049094	+	RNA	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:10049093_10049094insG	ENST00000383808.2	-	0	904_905																											GGGTCAGTGGCGGGGTGTGGTC	0.589													10	529	---	---	---	---					
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:33602361delT	ENST00000399362.4	-	28	3243	c.2890delA	c.(2890-2892)tgfs	p.M964fs	CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs	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													9	862	---	---	---	---					
CDC25A	993	broad.mit.edu	37	3	48200922	48200923	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:48200922_48200923delTC	ENST00000302506.3	-	14	1753_1754	c.1345_1346delGA	c.(1345-1347)tfs	p.D449fs	CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	449	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACCCAGGCGATCTCTCTCTCTC	0.515													8	512	---	---	---	---					
USP4	7375	broad.mit.edu	37	3	49321969	49321971	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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	864	---	---	---	---					
PRKCD	5580	broad.mit.edu	37	3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:53220653delG	ENST00000394729.2	+	13	1622	c.1294delG	c.(1294-1296)ggfs	p.G433fs	PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	433	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GTTCCTCAACGGGGGGGACCT	0.602													17	2467	---	---	---	---					
APPL1	26060	broad.mit.edu	37	3	57276921	57276921	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:57276921delA	ENST00000288266.3	+	7	600	c.453delA	c.(451-453)tcfs	p.S151fs		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	151	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	p.R154fs*6(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCCGTTTATCAAAAAAAAGAG	0.299													8	333	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)del	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502													10	320	---	---	---	---					
RP11-325B23.2	0	broad.mit.edu	37	3	98031434	98031434	+	RNA	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:98031434delA	ENST00000508616.1	+	0	149				OR5H8P_ENST00000394191.2_RNA																							TTACAATCTTAAAAAAAAAAG	0.333													13	170	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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													16	2050	---	---	---	---					
TRMT10C	54931	broad.mit.edu	37	3	101284009	101284009	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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													22	318	---	---	---	---					
MORC1	27136	broad.mit.edu	37	3	108682418	108682419	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:108682418_108682419insT	ENST00000232603.5	-	27	2723_2724	c.2641_2642insA	c.(2641-2643)aaafs	p.K881fs	MORC1_ENST00000483760.1_Frame_Shift_Ins_p.K860fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	881					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTCCTCTTTATTTTTTTTTCA	0.287													10	349	---	---	---	---					
FAM86JP	0	broad.mit.edu	37	3	125647339	125647339	+	RNA	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:125647339delC	ENST00000485843.1	+	0	484					NR_024251.1																						TGTTTCCAGGCCAGGCCAGGA	0.557													9	678	---	---	---	---					
MBD4	8930	broad.mit.edu	37	3	129155548	129155548	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:129155548delT	ENST00000429544.2	-	3	1134	c.939delA	c.(937-939)aafs	p.K313fs	MBD4_ENST00000503197.1_Frame_Shift_Del_p.K313fs|MBD4_ENST00000249910.1_Frame_Shift_Del_p.K313fs|MBD4_ENST00000507208.1_Frame_Shift_Del_p.K313fs|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	313					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						ATGATCTTTCTTTTTTTTTTA	0.373								Base excision repair (BER), DNA glycosylases					23	777	---	---	---	---					
H1FOO	132243	broad.mit.edu	37	3	129268107	129268108	+	Frame_Shift_Ins	INS	-	-	A	rs150160917	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:129268107_129268108insA	ENST00000324382.2	+	3	647_648	c.642_643insA	c.(640-645)gcggaafs	p.E215fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.E76fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	215					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						CGGGAGAGGCTAGGAAGGTGCC	0.653													7	95	---	---	---	---					
TOPBP1	11073	broad.mit.edu	37	3	133329879	133329880	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:133329879_133329880insT	ENST00000260810.5	-	25	4272_4273	c.4141_4142insA	c.(4141-4143)ccafs	p.P1381fs		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1381					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCTTTGCTGGATTTTTTTTCTC	0.342								Other conserved DNA damage response genes					8	903	---	---	---	---					
SLCO2A1	6578	broad.mit.edu	37	3	133670082	133670083	+	Frame_Shift_Ins	INS	-	-	A	rs141736851		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:133670082_133670083insA	ENST00000310926.4	-	6	1103_1104	c.830_831insT	c.(829-831)tttfs	p.F277fs	SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	277					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CTCGAGGGAAGAAAAAAAAGGG	0.490													8	696	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gat>ga	p.DD541del	DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													8	628	---	---	---	---					
RAP2B	5912	broad.mit.edu	37	3	152880927	152880962	+	In_Frame_Del	DEL	AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	-	rs138892831		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:152880927_152880962delAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	ENST00000323534.2	+	1	899_934	c.445_480delAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	c.(445-480)del	p.NKASVDELFAEI149del		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	149					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GTCGGCCAAAAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATCGTGCGGCAGA	0.661													11	108	---	---	---	---					
RP11-3P17.4	0	broad.mit.edu	37	3	161146872	161146873	+	RNA	DEL	AT	AT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231					NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342													13	144	---	---	---	---					
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A	rs150885877	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)tttfs	p.F156fs	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446													7	1158	---	---	---	---					
FETUB	26998	broad.mit.edu	37	3	186370137	186370137	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:186370137delC	ENST00000265029.3	+	7	967	c.866delC	c.(865-867)acfs	p.T289fs	FETUB_ENST00000382134.3_Frame_Shift_Del_p.T224fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.T252fs|FETUB_ENST00000539949.1_Frame_Shift_Del_p.T141fs|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.T289fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	289						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAGAAAAACACCCCCCCAACA	0.498													8	1569	---	---	---	---					
PAK2	5062	broad.mit.edu	37	3	196541368	196541368	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:196541368delG	ENST00000327134.3	+	11	1304	c.982delG	c.(982-984)ggfs	p.G329fs		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	329	Protein kinase.			G -> R (in Ref. 3; AAA75468).	axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ATACCTTGCTGGGGGGTCACT	0.408													7	1063	---	---	---	---					
PDE6B	5158	broad.mit.edu	37	4	661763	661765	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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													9	1059	---	---	---	---					
LRPAP1	4043	broad.mit.edu	37	4	3516576	3516582	+	Frame_Shift_Del	DEL	AGCTTCT	AGCTTCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:3516576_3516582delAGCTTCT	ENST00000500728.2	-	7	1054_1060	c.908_914delAGAAGCT	c.(907-915)ggfs	p.EKL303fs	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	303	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TGCGTGCCTCAGCTTCTCGTGCGCAAT	0.614													232	576	---	---	---	---					
LDB2	9079	broad.mit.edu	37	4	16504316	16504317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:16504316_16504317insG	ENST00000304523.5	-	8	1394_1395	c.1071_1072insC	c.(1069-1074)ccccacfs	p.H358fs	LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000515064.1_Frame_Shift_Ins_p.H356fs|RP11-446J8.1_ENST00000512370.1_RNA	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	358							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TCTTGAGTGGCGGGAGGTTTAC	0.540													15	1910	---	---	---	---					
SEC31A	22872	broad.mit.edu	37	4	83785564	83785565	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:83785564_83785565insT	ENST00000432794.1	-	11	1547_1548	c.1384_1385insA	c.(1384-1386)tgafs	p.*462fs	SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.*457fs|SEC31A_ENST00000395310.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.*234fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.*462fs			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	462	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	p.I462fs*16(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AGAAGCATCAATTTTTTTTTGG	0.356													12	442	---	---	---	---					
PKD2	5311	broad.mit.edu	37	4	88986559	88986559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:88986559delA	ENST00000237596.2	+	11	2218	c.2152delA	c.(2152-2154)aafs	p.K719fs	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	719	EF-hand domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACTAAAACTGAAAAAAAATAC	0.383													7	971	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gct>g	p.EA158del	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626													7	1007	---	---	---	---					
MMRN1	22915	broad.mit.edu	37	4	90844391	90844393	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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													8	1620	---	---	---	---					
CFI	3426	broad.mit.edu	37	4	110662159	110662159	+	Frame_Shift_Del	DEL	C	C	-	rs7437875	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:110662159delC	ENST00000394634.2	-	13	1849	c.1642delG	c.(1642-1644)aafs	p.E548fs	CFI_ENST00000394635.3_Frame_Shift_Del_p.E556fs|CFI_ENST00000512148.1_Frame_Shift_Del_p.E541fs	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	548	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CCACAGTTTTCCCCCCAACTC	0.463													9	2110	---	---	---	---					
SEC24D	9871	broad.mit.edu	37	4	119745869	119745870	+	Frame_Shift_Ins	INS	-	-	G	rs141446866		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:119745869_119745870insG	ENST00000379735.5	-	3	424_425	c.153_154insC	c.(151-156)acccacfs	p.H52fs	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.H52fs	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	52	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CCCCTAGTGGCGGTGGCCCCCA	0.540													8	1085	---	---	---	---					
SEC24D	9871	broad.mit.edu	37	4	119745872	119745873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:119745872_119745873insG	ENST00000379735.5	-	3	421_422	c.150_151insC	c.(148-153)gcccgcfs	p.R51fs	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.R51fs	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	51	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CTAGTGGCGGTGGCCCCCAAAG	0.540													7	967	---	---	---	---					
SCLT1	132320	broad.mit.edu	37	4	129864163	129864163	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:129864163delT	ENST00000281142.5	-	17	2123	c.1620delA	c.(1618-1620)aafs	p.K540fs	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	540						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTACTTTGGCTTTTTTTTGAG	0.353													7	574	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													13	569	---	---	---	---					
FAM198B	51313	broad.mit.edu	37	4	159091487	159091489	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:159091487_159091489delGCT	ENST00000393807.5	-	3	1327_1329	c.921_923delAGC	c.(919-924)gcg>gc	p.AA307del	FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000585682.1_Intron	NM_001031700.2	NP_001026870.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	307						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGAAAGACACGCTGCTGCTGCTG	0.458													7	214	---	---	---	---					
TENM3	55714	broad.mit.edu	37	4	183609359	183609359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:183609359delG	ENST00000511685.1	+	12	2199	c.2076delG	c.(2074-2076)atfs	p.M692fs	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs					teneurin transmembrane protein 3																		GCGTTTGCATGGGGGGGACGT	0.592													7	1196	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaa>a	p.KE85del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	85					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414													11	1113	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190882978	190882980	+	Splice_Site	DEL	AAG	AAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:190882978_190882980delAAG	ENST00000226798.4	+	8	853_855	c.629_splice	c.e8-1	p.K212_splice		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	212					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCTTTACAGAAAGAAATTTCAGA	0.276													7	1347	---	---	---	---					
TRIO	7204	broad.mit.edu	37	5	14358383	14358385	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr5:14358383_14358385delCAG	ENST00000344204.4	+	12	2167_2169	c.2143_2145delCAG	c.(2143-2145)del	p.Q718del	TRIO_ENST00000537187.1_In_Frame_Del_p.Q718del|TRIO_ENST00000509967.2_In_Frame_Del_p.Q669del	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	718	Poly-Gln.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCGCTTTGGCCAGCAGCAGCAGA	0.631													11	777	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)tcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)			11	1146	---	---	---	---					
NIPBL	25836	broad.mit.edu	37	5	36985082	36985083	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr5:36985082_36985083insA	ENST00000282516.8	+	10	2299_2300	c.1800_1801insA	c.(1798-1803)ccaaaafs	p.PK600fs	NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.PK600fs|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	600					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTGAGACACCTAAAAAAAAGTC	0.356													7	533	---	---	---	---					
C6	729	broad.mit.edu	37	5	41160299	41160300	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr5:41160299_41160300delAC	ENST00000263413.3	-	11	1892_1893	c.1628_1629delGT	c.(1627-1629)tfs	p.C543fs	C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	543	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCCACTCTGACACACACACAG	0.475													7	966	---	---	---	---					
DMXL1	1657	broad.mit.edu	37	5	118525523	118525524	+	Frame_Shift_Ins	INS	-	-	G	rs17144964	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr5:118525523_118525524insG	ENST00000311085.8	+	29	7336_7337	c.7256_7257insG	c.(7255-7257)ggtfs	p.G2419fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.G2419fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2419										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAGTCACTGGCGGTTAAAGAAA	0.421													12	892	---	---	---	---					
ANKHD1	54882	broad.mit.edu	37	5	139905676	139905676	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr5:139905676delA	ENST00000297183.6	+	26	4712	c.4588delA	c.(4588-4590)aafs	p.K1531fs	ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTTTGGGAAAAAAAGGGC	0.423													12	1409	---	---	---	---					
PCDHB2	0	broad.mit.edu	37	5	140474590	140474590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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	622	---	---	---	---					
STK10	6793	broad.mit.edu	37	5	171517345	171517345	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr5:171517345delT	ENST00000176763.5	-	10	1919	c.1576delA	c.(1576-1578)ccfs	p.T526fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGCTTGAGGGTTTTTTTGTAC	0.517													8	1676	---	---	---	---					
BNIP1	662	broad.mit.edu	37	5	172578611	172578611	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr5:172578611delT	ENST00000231668.9	+	3	324	c.220delT	c.(220-222)ttfs	p.F76fs	BNIP1_ENST00000351486.5_Intron|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000393770.4_Intron	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	59					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTCCACATTTTTTTTTAA	0.348													19	527	---	---	---	---					
CPLX2	10814	broad.mit.edu	37	5	175306965	175306967	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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	182	---	---	---	---					
GRM6	2916	broad.mit.edu	37	5	178418555	178418555	+	Frame_Shift_Del	DEL	C	C	-	rs17078894	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr5:178418555delC	ENST00000231188.5	-	3	905	c.727delG	c.(727-729)tcfs	p.V243fs	GRM6_ENST00000517717.1_Frame_Shift_Del_p.V243fs	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	243					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCAATACAGACCCCCCCTGGG	0.622													7	1585	---	---	---	---					
CANX	821	broad.mit.edu	37	5	179149920	179149920	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr5:179149920delT	ENST00000247461.4	+	11	1498	c.1298delT	c.(1297-1299)atfs	p.I433fs	CANX_ENST00000504734.1_Frame_Shift_Del_p.I433fs|CANX_ENST00000415618.2_Frame_Shift_Del_p.I468fs|CANX_ENST00000512607.2_Frame_Shift_Del_p.I325fs|CANX_ENST00000452673.2_Frame_Shift_Del_p.I433fs	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	433				SDI -> LTF (in Ref. 9; AAA35696).	post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTCTGACATTTTTTTTGAC	0.423													8	637	---	---	---	---					
HCG17	0	broad.mit.edu	37	6	30230129	30230129	+	RNA	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr6:30230129delG	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA																							GGTGAGACATGGGGGGGCCTG	0.512													8	710	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													36	688	---	---	---	---					
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr6:76599857_76599858insA	ENST00000369981.3	+	26	3021_3022	c.2742_2743insA	c.(2740-2745)caaaaafs	p.QK914fs	MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs			Q9UM54	MYO6_HUMAN	myosin VI	914					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													12	455	---	---	---	---					
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr6:80751896_80751897insA	ENST00000509894.1	+	22	3377_3378	c.2548_2549insA	c.(2548-2550)aaafs	p.K850fs	TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs			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													9	249	---	---	---	---					
POU3F2	5454	broad.mit.edu	37	6	99283172	99283173	+	In_Frame_Ins	INS	-	-	CAG			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr6:99283172_99283173insCAG	ENST00000328345.5	+	1	593_594	c.423_424insCAG	c.(421-426)caagca>caCAGagca	p.141_141Q>HR		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	141	Poly-Gln.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		aacagcagcaacagcagcagca	0.708													8	11	---	---	---	---					
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)ccgcgg>ccGGCgcgg	p.389_390PR>PAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													25	239	---	---	---	---					
HOXA11	3207	broad.mit.edu	37	7	27222462	27222462	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:27222462delT	ENST00000006015.3	-	2	966	c.895delA	c.(895-897)ttfs	p.I299fs		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	299					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TCTCTGTTAATTTTTTTTTCC	0.448			T	NUP98	CML								10	815	---	---	---	---					
CPVL	54504	broad.mit.edu	37	7	29070262	29070262	+	Frame_Shift_Del	DEL	T	T	-	rs5883182		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:29070262delT	ENST00000409850.1	-	16	1897	c.1251delA	c.(1249-1251)aafs	p.K417fs	CPVL_ENST00000396276.3_Frame_Shift_Del_p.K417fs|CPVL_ENST00000265394.5_Frame_Shift_Del_p.K417fs			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	417					proteolysis		protein binding|serine-type carboxypeptidase activity	p.V418fs*24(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCTTCCAAACTTTTTTTTCTG	0.507													9	1045	---	---	---	---					
BBS9	27241	broad.mit.edu	37	7	33312723	33312723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:33312723delT	ENST00000242067.6	+	8	1323	c.802delT	c.(802-804)ttfs	p.F269fs	BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	269					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGAGAGAAACTTTTTTTGCCT	0.393									Bardet-Biedl syndrome				12	1103	---	---	---	---					
TRGC1	0	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													15	890	---	---	---	---					
ADCY1	107	broad.mit.edu	37	7	45614538	45614540	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:45614538_45614540delCTT	ENST00000297323.7	+	1	418_420	c.396_398delCTT	c.(394-399)acc>ac	p.TF132del	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	132					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	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCAGCCTCACCTTCGCGCTGCTC	0.719													115	186	---	---	---	---					
ZNF733P	0	broad.mit.edu	37	7	62752415	62752416	+	RNA	INS	-	-	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:62752415_62752416insC	ENST00000331425.6	-	0	1019_1020					NR_003952.1																						GCATAGGGTTTTCTCTAGTATG	0.421													8	309	---	---	---	---					
CCT6P3	0	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621					NR_033416.1																						CTTTCTGTAACTTTTTTTTTTT	0.317													10	115	---	---	---	---					
PMS2P3	0	broad.mit.edu	37	7	75142142	75142142	+	RNA	DEL	A	A	-	rs35519730		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:75142142delA	ENST00000418756.1	-	0	991					NR_028059.1															lung(1)	1						tctcaaaaagaaaaaaaaaaa	0.418													9	24	---	---	---	---					
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408													18	933	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82595446	82595447	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:82595446_82595447insT	ENST00000423517.2	-	4	3994_3995	c.3657_3658insA	c.(3655-3660)aataatfs	p.NN1219fs	PCLO_ENST00000333891.8_Frame_Shift_Ins_p.NN1219fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1158					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAGGGATTAGTTTTTTTTCTT	0.386													7	1527	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:91671392_91671393delAG	ENST00000359028.2	+	20	5211_5212	c.4986_4987delAG	c.(4984-4989)tcagfs	p.SE1662fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1662					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid								8	522	---	---	---	---					
CCDC132	55610	broad.mit.edu	37	7	92923947	92923948	+	Splice_Site	INS	-	-	G	rs140810598	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:92923947_92923948insG	ENST00000544910.1	+	15	1296_1297	c.1077_splice	c.e15+1	p.R359_splice	CCDC132_ENST00000305866.5_Splice_Site_p.R389_splice|CCDC132_ENST00000535481.1_Splice_Site_p.R109_splice|CCDC132_ENST00000317751.6_Splice_Site_p.R120_splice|CCDC132_ENST00000541136.1_Splice_Site_p.R200_splice	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	389										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CGAATATGGCAGGTTTGGtttt	0.272													8	1023	---	---	---	---					
ZKSCAN5	23660	broad.mit.edu	37	7	99103706	99103706	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:99103706delC	ENST00000394170.2	+	2	290	c.39delC	c.(37-39)gafs	p.D13fs	ZKSCAN5_ENST00000451158.1_Frame_Shift_Del_p.D13fs|ZKSCAN5_ENST00000326775.5_Frame_Shift_Del_p.D13fs	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	13					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	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)					TAGACTTAGACCCCCCAGCTG	0.483													9	3137	---	---	---	---					
CYP3A7	1551	broad.mit.edu	37	7	99328707	99328707	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:99328707delA	ENST00000336374.2	-	2	142	c.140delT	c.(139-141)tgfs	p.L47fs		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	47					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AGCATTTCCCAAAAAAGGCAG	0.413													11	2076	---	---	---	---					
TSC22D4	81628	broad.mit.edu	37	7	100075542	100075543	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:100075542_100075543insG	ENST00000300181.2	-	2	873_874	c.119_120insC	c.(118-120)cccfs	p.P40fs	TSC22D4_ENST00000393991.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	40					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGCGGGGCGGGGGCCCGGT	0.708													7	170	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100281686	100281688	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:100281686_100281688delGCT	ENST00000275732.5	-	15	3032_3034	c.1823_1825delAGC	c.(1822-1827)ctc>c	p.QL608del		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	608	Gln-rich.|Poly-Gln.									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)					AATGCCGTGAGCTGCTGCTGCTG	0.690													13	462	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100283635	100283637	+	In_Frame_Del	DEL	TCC	TCC	-	rs142340746		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:100283635_100283637delTCC	ENST00000275732.5	-	9	2223_2225	c.1014_1016delGGA	c.(1012-1017)gaa>ga	p.EE338del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	338	Poly-Glu.									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)					TTCGGAAGGTTCCTCCTCCTCCT	0.675													10	858	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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													9	822	---	---	---	---					
SRRT	51593	broad.mit.edu	37	7	100482040	100482042	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:100482040_100482042delAGG	ENST00000388793.4	+	7	1029_1031	c.809_811delAGG	c.(808-813)cag>c	p.QE270del	SRRT_ENST00000457580.2_In_Frame_Del_p.QE270del|SRRT_ENST00000347433.4_In_Frame_Del_p.QE270del|SRRT_ENST00000432932.1_In_Frame_Del_p.QE270del	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	270	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATCCTGGAGCAGGAGGAGGAGGA	0.596													20	583	---	---	---	---					
UFSP1	402682	broad.mit.edu	37	7	100486697	100486697	+	Frame_Shift_Del	DEL	C	C	-	rs138095729		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:100486697delC	ENST00000388761.2	-	1	642	c.196delG	c.(196-198)acfs	p.D66fs		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	66										lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCATCTGCGTCCCCCCCAACC	0.647													10	1233	---	---	---	---					
CNOT4	4850	broad.mit.edu	37	7	135047688	135047688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:135047688delG	ENST00000541284.1	-	12	2421	c.2091delC	c.(2089-2091)ccfs	p.P697fs	CNOT4_ENST00000423368.2_Frame_Shift_Del_p.P626fs|CNOT4_ENST00000361528.4_Frame_Shift_Del_p.P623fs|CNOT4_ENST00000451834.1_Frame_Shift_Del_p.P694fs	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	366					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GGGTTTTGCTGGGGGGTCTGA	0.532													7	1708	---	---	---	---					
TRBV7-4	0	broad.mit.edu	37	7	142176678	142176679	+	RNA	DEL	CA	CA	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:142176678_142176679delCA	ENST00000390369.2	-	0	49																											GTAGTCATCGCACACACACACA	0.460													11	288	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151970890	151970891	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:151970890_151970891insT	ENST00000355193.2	-	7	1129_1130	c.911_912insA	c.(910-912)catfs	p.H304fs	KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.H304fs					lysine (K)-specific methyltransferase 2C																		AATGATACATCTGGGTACATTT	0.436													20	1002	---	---	---	---					
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aafs	p.K107fs	MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274													10	511	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18729796	18729796	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr8:18729796delT	ENST00000440756.2	-	3	680	c.578delA	c.(577-579)atfs	p.N193fs	PSD3_ENST00000523619.1_Frame_Shift_Del_p.N128fs|PSD3_ENST00000327040.8_Frame_Shift_Del_p.N193fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	193					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCTGGTAAATTTTTTTGGCC	0.438													8	996	---	---	---	---					
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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				15	614	---	---	---	---					
PABPC1	26986	broad.mit.edu	37	8	101724994	101724995	+	Frame_Shift_Ins	INS	-	-	A	rs140822921	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr8:101724994_101724995insA	ENST00000318607.5	-	6	1889_1890	c.761_762insT	c.(760-762)agafs	p.R254fs	PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	254	CSDE1-binding.|RRM 3.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTGAGCTCCTTTCCGTTCAT	0.371													8	447	---	---	---	---					
TSNARE1	203062	broad.mit.edu	37	8	143310866	143310868	+	In_Frame_Del	DEL	GAT	GAT	-	rs142964918		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr8:143310866_143310868delGAT	ENST00000524325.1	-	13	1691_1693	c.1516_1518delATC	c.(1516-1518)del	p.I506del	TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del|TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	507	Poly-Ile.				vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGAGGTGGCGATGATGATGATG	0.512													8	454	---	---	---	---					
ZC3H3	23144	broad.mit.edu	37	8	144522387	144522389	+	In_Frame_Del	DEL	GAG	GAG	-	rs2272753	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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	127	---	---	---	---					
HABP4	22927	broad.mit.edu	37	9	99250415	99250416	+	Frame_Shift_Ins	INS	-	-	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:99250415_99250416insC	ENST00000375249.4	+	7	1119_1120	c.1044_1045insC	c.(1042-1047)aaccgcfs	p.R349fs	HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Frame_Shift_Ins_p.R244fs	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	349					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				TTTTCCGGAAACCCGCCAATGA	0.530													11	516	---	---	---	---					
RABL6	55684	broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:139734633_139734635delAGA	ENST00000371675.3	+	14	2498_2500	c.1613_1615delAGA	c.(1612-1617)gag>g	p.EK538del	RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000357466.2_Intron					RAB, member RAS oncogene family-like 6																		CCCTCTaaggagaagaagaagaa	0.571													14	393	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	17113554	17113554	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr10:17113554delA	ENST00000377833.4	-	19	2561	c.2496delT	c.(2494-2496)ttfs	p.F832fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	832	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACACGTTAGGAAAAAAAGGCG	0.413													7	349	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gcg>gc	p.AGDRMAGA36del	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													7	28	---	---	---	---					
RTKN2	219790	broad.mit.edu	37	10	63958149	63958149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr10:63958149delT	ENST00000373789.3	-	12	1444	c.1348delA	c.(1348-1350)ttfs	p.I450fs	RTKN2_ENST00000395265.1_Frame_Shift_Del_p.I471fs|RTKN2_ENST00000315289.2_Frame_Shift_Del_p.I252fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	450					signal transduction	intracellular		p.I450fs*67(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTCTCTTCAATTTTTTTTTGT	0.333													7	394	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr10:81072446delC	ENST00000334512.5	+	25	3716	c.3144delC	c.(3142-3144)gafs	p.D1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557													11	1349	---	---	---	---					
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr10:105048271_105048273delGAG	ENST00000369849.4	+	3	1394_1396	c.1345_1347delGAG	c.(1345-1347)del	p.E454del		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	454	Poly-Glu.|Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458													14	502	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602546	5602546	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:5602546delC	ENST00000345043.2	+	1	440	c.440delC	c.(439-441)tcfs	p.S147fs	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCATCTGCTCCCCCCTGCGA	0.507													7	1093	---	---	---	---					
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)del	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517													9	984	---	---	---	---					
NAV2	89797	broad.mit.edu	37	11	19901475	19901477	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:19901475_19901477delAGC	ENST00000396085.1	+	5	933_935	c.572_574delAGC	c.(571-576)aag>a	p.KQ191del	NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	191	CH.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCGATACAagcagcagcagca	0.611													15	884	---	---	---	---					
CKAP5	9793	broad.mit.edu	37	11	46829683	46829683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:46829683delT	ENST00000529230.1	-	8	922	c.876delA	c.(874-876)aafs	p.K292fs	CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	292					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTTGCCATTTTTTTGCCT	0.363													8	1280	---	---	---	---					
TRIM51HP	0	broad.mit.edu	37	11	55065032	55065032	+	RNA	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:55065032delT	ENST00000526016.1	-	0	393					NR_038174.2																						AAAGACTGCATTTTTTTTTAG	0.398													8	406	---	---	---	---					
OR5A1	219982	broad.mit.edu	37	11	59210950	59210951	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:59210950_59210951insT	ENST00000302030.2	+	1	334_335	c.309_310insT	c.(307-312)cattttfs	p.HF103fs		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTGCTGCTCAGTTTTTTTTCTT	0.510													7	1135	---	---	---	---					
MYRF	745	broad.mit.edu	37	11	61539012	61539013	+	Frame_Shift_Ins	INS	-	-	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:61539012_61539013insC	ENST00000278836.5	+	6	877_878	c.781_782insC	c.(781-783)cccfs	p.P261fs	MYRF_ENST00000265460.5_Frame_Shift_Ins_p.P252fs|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor									p.S255fs*74(1)									GCACTCTGAATCCCCCCCCAGC	0.634													17	1015	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62299856	62299856	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:62299856delC	ENST00000378024.4	-	5	2307	c.2033delG	c.(2032-2034)gafs	p.G678fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	678					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTAAGTTTTCCCCCCAGACC	0.478													7	1302	---	---	---	---					
RTN3	10313	broad.mit.edu	37	11	63525788	63525788	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:63525788delT	ENST00000354497.4	+	4	634	c.570delT	c.(568-570)gcfs	p.A190fs	RTN3_ENST00000540798.1_3'UTR|RTN3_ENST00000377819.5_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000356000.3_3'UTR	NM_001265591.1	NP_001252520.1	O95197	RTN3_HUMAN	reticulon 3	0					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CATTCCAAGCTTTTTTTTTAA	0.348													8	259	---	---	---	---					
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gct>g	p.DA183del	PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478													15	881	---	---	---	---					
NPAT	4863	broad.mit.edu	37	11	108044434	108044434	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:108044434delT	ENST00000278612.8	-	13	1382	c.1277delA	c.(1276-1278)agfs	p.K426fs		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	426					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTTAAAGGCCTTTTTCTGTAT	0.383													7	985	---	---	---	---					
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:108788635_108788637delTGA	ENST00000526794.1	+	17	2372_2374	c.2340_2342delTGA	c.(2338-2343)agt>ag	p.SD780del	DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	780							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*								13	521	---	---	---	---					
BCL9L	283149	broad.mit.edu	37	11	118772974	118772974	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:118772974delG	ENST00000334801.3	-	6	2442	c.1478delC	c.(1477-1479)cgfs	p.P493fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	493	Necessary for interaction with CTNNB1 (By similarity).|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)		GTCCCCACCCGGGGGGTGCCC	0.622													9	1128	---	---	---	---					
NFRKB	4798	broad.mit.edu	37	11	129752496	129752496	+	Frame_Shift_Del	DEL	T	T	-	rs149369172		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:129752496delT	ENST00000446488.3	-	9	1035	c.932delA	c.(931-933)agfs	p.K311fs	NFRKB_ENST00000524746.1_Frame_Shift_Del_p.K311fs|NFRKB_ENST00000524794.1_Frame_Shift_Del_p.K336fs|NFRKB_ENST00000304521.5_Frame_Shift_Del_p.K311fs	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	311	Lys-rich.				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTCCTTAACCTTTTTTTTAAG	0.438													7	609	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711145	6711147	+	In_Frame_Del	DEL	TCC	TCC	-	rs71584865	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:6711145_6711147delTCC	ENST00000309577.6	-	4	580_582	c.417_419delGGA	c.(415-420)gat>ga	p.ED139del	CHD4_ENST00000357008.2_In_Frame_Del_p.ED139del|CHD4_ENST00000544040.1_In_Frame_Del_p.ED132del|CHD4_ENST00000544484.1_In_Frame_Del_p.ED136del			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	139	Poly-Asp.		E -> D (in dbSNP:rs1639122).		chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATCATCATCAtcctcctcctcct	0.453													17	449	---	---	---	---					
PLCZ1	89869	broad.mit.edu	37	12	18841025	18841025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:18841025delT	ENST00000266505.7	-	13	1852	c.1589delA	c.(1588-1590)atfs	p.N530fs	PLCZ1_ENST00000534932.1_Frame_Shift_Del_p.N11fs|PLCZ1_ENST00000538330.1_Frame_Shift_Del_p.N312fs|PLCZ1_ENST00000435379.1_Frame_Shift_Del_p.N335fs|PLCZ1_ENST00000539875.1_Frame_Shift_Del_p.N337fs|PLCZ1_ENST00000447925.2_Frame_Shift_Del_p.N528fs|PLCZ1_ENST00000541695.1_Frame_Shift_Del_p.N393fs			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	530	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GAGCTCACCATTTTTTTTAAT	0.294													7	551	---	---	---	---					
ITPR2	3709	broad.mit.edu	37	12	26640046	26640046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:26640046delT	ENST00000381340.3	-	40	5925	c.5509delA	c.(5509-5511)ggfs	p.R1837fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1837					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCATCGTCCCTTTTTTTGTTA	0.358													12	733	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:46318575_46318577delGGT	ENST00000465950.1	-	2	4104_4106	c.2895_2897delACC	c.(2893-2898)ccc>cc	p.PP969del	SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del			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													8	328	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:46320707_46320708delTC	ENST00000465950.1	-	1	3040_3041	c.1831_1832delGA	c.(1831-1833)afs	p.E611fs	SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926					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						GGTTCTCCTTTCTCTCTCTCTC	0.446													12	669	---	---	---	---					
CBX5	23468	broad.mit.edu	37	12	54645832	54645832	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:54645832delT	ENST00000209875.4	-	3	453	c.317delA	c.(316-318)agfs	p.K106fs	CBX5_ENST00000550411.1_Frame_Shift_Del_p.K106fs|CBX5_ENST00000439541.2_Frame_Shift_Del_p.K106fs	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	106					blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TACCTCTCTCTTTTTTTTAGA	0.323													10	1178	---	---	---	---					
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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													8	835	---	---	---	---					
RP11-74M13.4	0	broad.mit.edu	37	12	57255299	57255300	+	RNA	INS	-	-	A	rs139092727	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:57255299_57255300insA	ENST00000557452.1	+	0	720																											ATGGAAGAAGGAAaaaaaaata	0.426													10	385	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57572242	57572242	+	Frame_Shift_Del	DEL	G	G	-	rs139915490		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:57572242delG	ENST00000243077.3	+	27	4928	c.4462delG	c.(4462-4464)ggfs	p.G1489fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1489					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)	GACGCTGTACGGGGGGGAGGT	0.587													8	1170	---	---	---	---					
MBD6	0	broad.mit.edu	37	12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:57921401delC	ENST00000355673.3	+	8	2550	c.2194delC	c.(2194-2196)ccfs	p.P733fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.P733fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	733	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTCAGGGAGACCCCCCCAACT	0.602													9	2044	---	---	---	---					
TSFM	10102	broad.mit.edu	37	12	58177051	58177052	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:58177051_58177052insG	ENST00000454289.3	+	2	429_430	c.216_217insG	c.(214-219)gggggafs	p.GG72fs	TSFM_ENST00000550559.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000540550.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000497617.1_3'UTR|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.GG72fs|RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.G87fs|TSFM_ENST00000543727.1_Frame_Shift_Ins_p.GG72fs	NM_005726.5	NP_005717.3	P43897	EFTS_HUMAN	Ts translation elongation factor, mitochondrial	72					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGACTTGTGGCGGGGACCTCAA	0.569													18	2258	---	---	---	---					
LRIG3	121227	broad.mit.edu	37	12	59268350	59268351	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:59268350_59268351insG	ENST00000320743.3	-	17	2986_2987	c.2700_2701insC	c.(2698-2703)acgccafs	p.P901fs	LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.P841fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	901						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCAATATGGCAGGTCCCTTTGA	0.401			T	ROS1	NSCLC								12	756	---	---	---	---					
TMBIM4	51643	broad.mit.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:66531936_66531937insA	ENST00000358230.3	-	7	640_641	c.520_521insT	c.(520-522)tagfs	p.*174fs	TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000539652.1_Intron	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	174						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351													13	201	---	---	---	---					
C12orf42	374470	broad.mit.edu	37	12	103695960	103695960	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:103695960delG	ENST00000548048.1	-	9	1304	c.808delC	c.(808-810)gcfs	p.R270fs	C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000378113.2_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000315192.8_Intron			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CGGGTTGGGCGGGGGGGTGCT	0.587													7	473	---	---	---	---					
ZMYM5	9205	broad.mit.edu	37	13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gtt>g	p.DV59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379													9	501	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25517701	25517702	+	RNA	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:25517701_25517702insT	ENST00000429698.1	-	0	374																											ACCATTTGCTATTTTTTTTTCT	0.426													9	494	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													12	45	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.F335fs*19(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428													12	1301	---	---	---	---					
CDK8	1024	broad.mit.edu	37	13	26975609	26975611	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:26975609_26975611delCAG	ENST00000381527.3	+	12	1620_1622	c.1117_1119delCAG	c.(1117-1119)del	p.Q377del	CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	377	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TGAGAAGAACCAGCAGCAGCAGC	0.463													8	352	---	---	---	---					
WASF3	10810	broad.mit.edu	37	13	27250862	27250863	+	Splice_Site	DEL	GT	GT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:27250862_27250863delGT	ENST00000335327.5	+	7	894		c.e7+1		WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAGATACTAGGTGTGTGTGTGT	0.475													8	541	---	---	---	---					
DCLK1	9201	broad.mit.edu	37	13	36397008	36397008	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:36397008delC	ENST00000255448.4	-	11	1623	c.1412delG	c.(1411-1413)gafs	p.G471fs	DCLK1_ENST00000379893.1_Frame_Shift_Del_p.G164fs|DCLK1_ENST00000360631.3_Frame_Shift_Del_p.G471fs	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	471	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AAAAAGGTCTCCCCCCTGAGA	0.517													7	721	---	---	---	---					
KIAA1704	0	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:45580365_45580367delGAT	ENST00000361121.2	+	3	285_287	c.250_252delGAT	c.(250-252)del	p.D88del	KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA			Q8IXQ4	K1704_HUMAN		88	Poly-Asp.									breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		Ggatgatgacgatgatgatgatg	0.335													15	1536	---	---	---	---					
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)tgafs	p.*320fs	DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322													14	946	---	---	---	---					
FBXL3	26224	broad.mit.edu	37	13	77581683	77581683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:77581683delA	ENST00000355619.5	-	5	1208	c.884delT	c.(883-885)tafs	p.L295fs	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	295					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.L295fs*3(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCTTCATATAAAAAAAAATA	0.418													9	345	---	---	---	---					
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaaggafs	p.G728fs	RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332													12	345	---	---	---	---					
ABCC4	10257	broad.mit.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:95696016delT	ENST00000376887.4	-	29	3769	c.3655delA	c.(3655-3657)tcfs	p.I1219fs	ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1219	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTCTCCCGGATTTTTTTTTGT	0.378													13	616	---	---	---	---					
TRAC	0	broad.mit.edu	37	14	23020942	23020942	+	RNA	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr14:23020942delT	ENST00000478163.3	+	0	819																											GAGGGGTTTATTTTTTTTTAA	0.468													9	298	---	---	---	---					
DPPA3P2	0	broad.mit.edu	37	14	36841115	36841115	+	RNA	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr14:36841115delT	ENST00000557188.1	+	0	746																											TTCTTGCACCTTTTTTTCTTG	0.358													7	600	---	---	---	---					
RP11-407N17.3	0	broad.mit.edu	37	14	39746242	39746243	+	Frame_Shift_Ins	INS	-	-	T	rs75842899	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr14:39746242_39746243insT	ENST00000553728.1	+	6	1986_1987	c.1773_1774insT	c.(1771-1776)ctttttfs	p.LF591fs	RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000556148.1_Intron																							TTGCTGTTCTCTTTTTTTTGTG	0.371													10	490	---	---	---	---					
FANCM	57697	broad.mit.edu	37	14	45642288	45642289	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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				7	445	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gcg>g	p.EA38del	MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													7	56	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72054755	72054755	+	Frame_Shift_Del	DEL	C	C	-	rs12884638	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr14:72054755delC	ENST00000555818.1	+	2	514	c.166delC	c.(166-168)ccfs	p.P57fs	SIPA1L1_ENST00000381232.3_Frame_Shift_Del_p.P57fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Del_p.P57fs	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	57					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)		TCCTGTAGGACCCCCCCGAAG	0.532													8	926	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)del	p.S1468del	SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR	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													10	1036	---	---	---	---					
RTL1	388015	broad.mit.edu	37	14	101350670	101350671	+	In_Frame_Ins	INS	-	-	TCT	rs55755518	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr14:101350670_101350671insTCT	ENST00000534062.1	-	1	513_514	c.455_456insAGA	c.(454-456)gca>gAGAca	p.152_152A>ET		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	152										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGGTTTTGCTCTTGAGGAGT	0.520													10	13	---	---	---	---					
INF2	64423	broad.mit.edu	37	14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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													15	467	---	---	---	---					
IGHG1	0	broad.mit.edu	37	14	106206919	106206920	+	RNA	INS	-	-	C	rs138711722		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr14:106206919_106206920insC	ENST00000390548.2	-	0	985																											CTGCAGGGGCACCTTGTGAGAG	0.678													5	11	---	---	---	---					
GOLGA8DP	0	broad.mit.edu	37	15	22709778	22709779	+	RNA	DEL	TC	TC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr15:22709778_22709779delTC	ENST00000314246.8	-	0	1069																											CATGCTACCATCTCTCTCTCTG	0.535													8	739	---	---	---	---					
UBE3A	7337	broad.mit.edu	37	15	25601871	25601871	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr15:25601871delT	ENST00000232165.3	-	8	2582	c.1926delA	c.(1924-1926)aafs	p.K642fs	UBE3A_ENST00000566215.1_Frame_Shift_Del_p.K622fs|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Frame_Shift_Del_p.K622fs|UBE3A_ENST00000428984.2_Frame_Shift_Del_p.K622fs|UBE3A_ENST00000397954.2_Frame_Shift_Del_p.K645fs	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	645					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GAAAAGTTCCTTTTTTCCCCA	0.338													7	1669	---	---	---	---					
FAN1	22909	broad.mit.edu	37	15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aafs	p.K11fs	FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage					7	847	---	---	---	---					
EIF3J	8669	broad.mit.edu	37	15	44843099	44843099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr15:44843099delA	ENST00000261868.5	+	3	311	c.173delA	c.(172-174)gafs	p.E58fs	EIF3J_ENST00000535391.1_Frame_Shift_Del_p.E58fs|EIF3J_ENST00000424492.3_Intron	NM_003758.2	NP_003749.2	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3, subunit J	58	Sufficient for interaction with EIF3B.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.K60fs*36(1)		endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GATGATGATGAAAAAAAAGAG	0.358													7	755	---	---	---	---					
TLN2	83660	broad.mit.edu	37	15	63076122	63076123	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr15:63076122_63076123delCA	ENST00000472902.1	+	9	1201_1202	c.948_949delCA	c.(946-951)tgcafs	p.CT316fs	TLN2_ENST00000306829.6_Intron|TLN2_ENST00000561311.1_Intron			Q9Y4G6	TLN2_HUMAN	talin 2	0	FERM.|Interaction with PIP5K1C (By similarity).				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTTTAAGATGCACACACACACT	0.554													7	523	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64967246	64967247	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr15:64967246_64967247insA	ENST00000326648.3	+	4	2321_2322	c.2193_2194insA	c.(2191-2196)gaaaaafs	p.EK731fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	731	Poly-Lys.					nucleus	zinc ion binding	p.K734fs*12(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAAGAAAGACAAAAAAAAGAA	0.490													10	1456	---	---	---	---					
IL16	3603	broad.mit.edu	37	15	81592162	81592164	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr15:81592162_81592164delCCT	ENST00000394660.2	+	14	2855_2857	c.2495_2497delCCT	c.(2494-2499)gcc>g	p.AS832del	IL16_ENST00000394652.2_In_Frame_Del_p.AS131del|IL16_ENST00000302987.4_In_Frame_Del_p.AS832del|IL16_ENST00000560230.1_3'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	832					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.S792delS(1)|p.S838delS(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CACATCCGGGcctcctcctcctc	0.586													7	371	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													8	1786	---	---	---	---					
KIAA0430	9665	broad.mit.edu	37	16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggc>gg	p.GG120del	KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	119	Poly-Gly.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532													11	993	---	---	---	---					
IL4R	3566	broad.mit.edu	37	16	27373787	27373789	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr16:27373787_27373789delGAG	ENST00000395762.2	+	11	1373_1375	c.1114_1116delGAG	c.(1114-1116)del	p.E376del	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del	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													8	457	---	---	---	---					
ATXN2L	11273	broad.mit.edu	37	16	28846491	28846491	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr16:28846491delC	ENST00000336783.4	+	19	2713	c.2546delC	c.(2545-2547)acfs	p.T849fs	ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.T855fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.T849fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	849						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAGCAGCCTACCCCCCAAGCC	0.622													7	1322	---	---	---	---					
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)del	p.E392del	TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611													12	487	---	---	---	---					
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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													10	2071	---	---	---	---					
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)del	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich.				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						CAGctcctcatcctcctcctcct	0.547													7	640	---	---	---	---					
NETO2	81831	broad.mit.edu	37	16	47165886	47165886	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr16:47165886delT	ENST00000562435.1	-	2	469	c.85delA	c.(85-87)ccfs	p.T29fs	NETO2_ENST00000303155.5_Frame_Shift_Del_p.T29fs	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	29						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTACCTTGGGTTTTTTGGGCC	0.353										HNSCC(25;0.065)			7	1843	---	---	---	---					
KCTD19	146212	broad.mit.edu	37	16	67327780	67327781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr16:67327780_67327781insG	ENST00000304372.5	-	12	1939_1940	c.1884_1885insC	c.(1882-1887)ccccacfs	p.H629fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	629						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATGGGAGTGGCGGGAGGGTCTT	0.540													15	1657	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74378976	74378976	+	RNA	DEL	T	T	-	rs35591542		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr16:74378976delT	ENST00000429810.2	-	0	1086																											ACCTCTTGAAttttttttttt	0.418													6	11	---	---	---	---					
ADAMTS18	170692	broad.mit.edu	37	16	77334227	77334228	+	Frame_Shift_Ins	INS	-	-	G	rs148849944	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr16:77334227_77334228insG	ENST00000282849.5	-	17	3024_3025	c.2606_2607insC	c.(2605-2607)cgcfs	p.R869fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	869	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTTTTGTGGCTGGTGGAGTTCC	0.460													8	401	---	---	---	---					
SPG7	6687	broad.mit.edu	37	16	89613072	89613073	+	Frame_Shift_Ins	INS	-	-	G	rs111475461	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr16:89613072_89613073insG	ENST00000268704.2	+	11	1471_1472	c.1456_1457insG	c.(1456-1458)ggafs	p.G486fs		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	486			R -> Q.		cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCAGGAGAGGCGGGAGATTTTT	0.594													13	1000	---	---	---	---					
BCL6B	255877	broad.mit.edu	37	17	6927858	6927858	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:6927858delC	ENST00000293805.5	+	4	632	c.540delC	c.(538-540)ggfs	p.G180fs	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	180	Pro-rich.					nucleus	zinc ion binding	p.S183fs*6(1)		skin(1)	1						GCAGTCAAGGCCCCCCCAGTC	0.617													8	1355	---	---	---	---					
WDR16	146845	broad.mit.edu	37	17	9503387	9503389	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:9503387_9503389delGAT	ENST00000352665.5	+	6	709_711	c.640_642delGAT	c.(640-642)del	p.D217del	WDR16_ENST00000299764.5_In_Frame_Del_p.D227del|WDR16_ENST00000396219.3_In_Frame_Del_p.D149del	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	217						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TCTTCAGGTGGATGATGATGATA	0.502													7	795	---	---	---	---					
MYH2	4620	broad.mit.edu	37	17	10434975	10434975	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:10434975delT	ENST00000245503.5	-	22	3056	c.2672delA	c.(2671-2673)atfs	p.N891fs	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Frame_Shift_Del_p.N891fs|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	891					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGCAAGTCATTTTTTTCTTT	0.433													7	686	---	---	---	---					
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)del	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													8	899	---	---	---	---					
RAI1	10743	broad.mit.edu	37	17	17699993	17699995	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	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													7	434	---	---	---	---					
SLFN12	55106	broad.mit.edu	37	17	33749493	33749493	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:33749493delA	ENST00000394562.1	-	4	1078	c.555delT	c.(553-555)ttfs	p.F185fs	SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs			Q8IYM2	SLN12_HUMAN	schlafen family member 12	185							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGTTCTATCAAAAAAAACCC	0.368													10	587	---	---	---	---					
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaa>ga	p.EE840del	GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616													11	470	---	---	---	---					
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)del	p.G24del	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547													17	251	---	---	---	---					
HOXB2	3212	broad.mit.edu	37	17	46622130	46622132	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:46622130_46622132delAGG	ENST00000330070.4	-	1	1309_1311	c.142_144delCCT	c.(142-144)del	p.P48del	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	48					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TTTGCTCGAAAGGAGGAGGAGGA	0.596													8	679	---	---	---	---					
DDX5	1655	broad.mit.edu	37	17	62496298	62496298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:62496298delT	ENST00000225792.5	-	13	1989	c.1588delA	c.(1588-1590)ctfs	p.T530fs	DDX5_ENST00000450599.2_Frame_Shift_Del_p.T451fs|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000578804.1_Frame_Shift_Del_p.T530fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	530					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCATTCTGAGTTTTTGCCCCA	0.413			T	ETV4	prostate								8	1518	---	---	---	---					
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:76046980delA	ENST00000335749.4	+	3	2406	c.1837delA	c.(1837-1839)aafs	p.K614fs	TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522													11	693	---	---	---	---					
ANKRD20A5P	0	broad.mit.edu	37	18	14184163	14184164	+	RNA	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr18:14184163_14184164insT	ENST00000581935.1	+	0	852_853																				lung(3)	3						GGTAAGGGTCAATTTTTTATAT	0.282													8	335	---	---	---	---					
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr18:34261459_34261460delAG	ENST00000257209.4	+	12	1493_1494	c.1371_1372delAG	c.(1369-1374)gcagfs	p.AE457fs	FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	457					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.460													21	334	---	---	---	---					
ZNF236	7776	broad.mit.edu	37	18	74593429	74593430	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr18:74593429_74593430insA	ENST00000253159.8	+	9	1570_1571	c.1372_1373insA	c.(1372-1374)aaafs	p.K458fs	ZNF236_ENST00000320610.9_Frame_Shift_Ins_p.K460fs	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	458					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGATAAAAAAGAAAAAAAAATG	0.381													13	386	---	---	---	---					
ZNF44	51710	broad.mit.edu	37	19	12384448	12384448	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:12384448delA	ENST00000356109.5	-	5	884	c.766delT	c.(766-768)ggfs	p.W256fs	ZNF44_ENST00000355684.5_Frame_Shift_Del_p.W208fs	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AAACTGGGCCAAAAAAAGGCT	0.398													8	625	---	---	---	---					
ZNF442	79973	broad.mit.edu	37	19	12461741	12461741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:12461741delA	ENST00000242804.4	-	6	1240	c.658delT	c.(658-660)ggfs	p.W220fs	ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AAACTAGGCCAAAAAAAGGCT	0.403													9	765	---	---	---	---					
SUGP2	10147	broad.mit.edu	37	19	19136394	19136394	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:19136394delT	ENST00000601879.1	-	3	1060	c.763delA	c.(763-765)tafs	p.I255fs	SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000598202.1_5'UTR			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	255					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACGGTGGGTATTTTTTTTGTG	0.502													11	607	---	---	---	---					
WDR88	126248	broad.mit.edu	37	19	33666419	33666421	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:33666419_33666421delTCA	ENST00000355868.3	+	11	1436_1438	c.1360_1362delTCA	c.(1360-1362)del	p.S458del	WDR88_ENST00000361680.2_3'UTR	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	458	Poly-Ser.									breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TACTTCATCGTCATCATCATCAT	0.527													8	1105	---	---	---	---					
ZNF570	148268	broad.mit.edu	37	19	37976034	37976034	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:37976034delA	ENST00000330173.1	+	5	2039	c.1510delA	c.(1510-1512)aafs	p.K505fs	ZNF570_ENST00000388801.3_Frame_Shift_Del_p.K302fs|ZNF570_ENST00000586475.1_Frame_Shift_Del_p.K561fs	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAGGAATGCAAAAAAACCTT	0.448													7	904	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:38948159_38948160delTG	ENST00000355481.4	+	17	1945_1946	c.1814_1815delTG	c.(1813-1815)cfs	p.L605fs	RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000360985.3_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													11	1985	---	---	---	---					
HNRNPL	3191	broad.mit.edu	37	19	39330958	39330959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:39330958_39330959insG	ENST00000221419.5	-	8	1376_1377	c.1010_1011insC	c.(1009-1011)cccfs	p.P337fs	HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P204fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	337	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CGTAGTGAGGTGGGGGGGGCCC	0.668													8	189	---	---	---	---					
NCCRP1	342897	broad.mit.edu	37	19	39691081	39691081	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:39691081delC	ENST00000339852.4	+	5	666	c.644delC	c.(643-645)gcfs	p.A215fs		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	215	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						CACCACGTGGCCCCCCGAACT	0.672													8	1468	---	---	---	---					
AXL	558	broad.mit.edu	37	19	41743933	41743933	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:41743933delC	ENST00000301178.4	+	7	1058	c.868delC	c.(868-870)ccfs	p.P291fs	AXL_ENST00000359092.3_Frame_Shift_Del_p.P291fs|AXL_ENST00000593513.1_Frame_Shift_Del_p.P23fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	291	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AGCATCCGTGCCCCCCCATCA	0.647													11	1219	---	---	---	---					
EXOSC5	56915	broad.mit.edu	37	19	41903203	41903203	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:41903203delT	ENST00000221233.4	-	1	181	c.31delA	c.(31-33)tcfs	p.I11fs	EXOSC5_ENST00000596905.1_Frame_Shift_Del_p.I11fs|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	11					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TCAGCACGGATTTTGGCGTCA	0.647													7	1407	---	---	---	---					
BCL3	602	broad.mit.edu	37	19	45262726	45262726	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:45262726delC	ENST00000164227.5	+	9	1463	c.1219delC	c.(1219-1221)ccfs	p.P408fs		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	408	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CTCCCAGTCTCCCCCCAGGGA	0.627			T	IGH@	CLL								8	4145	---	---	---	---					
BCL3	602	broad.mit.edu	37	19	45262737	45262737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:45262737delC	ENST00000164227.5	+	9	1474	c.1230delC	c.(1228-1230)gafs	p.D410fs		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	410	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCCCCAGGGACCCCCCTGGAT	0.642			T	IGH@	CLL								8	3937	---	---	---	---					
SIGLEC16	400709	broad.mit.edu	37	19	50474857	50474861	+	RNA	DEL	GACGC	GACGC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:50474857_50474861delGACGC	ENST00000602139.1	+	0	998									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						CAGTCTCCAGGACGCTTCCCTTTGC	0.566													8	448	---	---	---	---					
ZNF211	0	broad.mit.edu	37	19	58153483	58153484	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:58153483_58153484insA	ENST00000544273.1	+	5	1992_1993	c.1665_1666insA	c.(1663-1668)ggaatcfs	p.I556fs	ZNF211_ENST00000541801.1_Frame_Shift_Ins_p.I535fs|ZNF211_ENST00000391703.3_Frame_Shift_Ins_p.I483fs|ZNF211_ENST00000254182.7_Frame_Shift_Ins_p.I535fs|ZNF211_ENST00000420680.1_Frame_Shift_Ins_p.I548fs|ZNF211_ENST00000240731.4_Frame_Shift_Ins_p.I557fs|ZNF211_ENST00000299871.5_Frame_Shift_Ins_p.I609fs|ZNF211_ENST00000347302.3_Frame_Shift_Ins_p.I544fs			Q13398	ZN211_HUMAN	zinc finger protein 211	544						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K557E(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCAATGTGGGAAATCCTTTGG	0.431													735	716	---	---	---	---					
ZNF552	79818	broad.mit.edu	37	19	58319468	58319468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:58319468delT	ENST00000391701.1	-	3	1333	c.1164delA	c.(1162-1164)aafs	p.K388fs	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTTGCCTAAATTTTTTTTCAC	0.413													11	1343	---	---	---	---					
CHGB	1114	broad.mit.edu	37	20	5903283	5903285	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr20:5903283_5903285delGAG	ENST00000378961.4	+	4	697_699	c.493_495delGAG	c.(493-495)del	p.E169del		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	169	Poly-Glu.					extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAGAGGATGAGGAGGAGGAGG	0.532													10	433	---	---	---	---					
RP4-777D9.2	0	broad.mit.edu	37	20	21143813	21143814	+	RNA	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr20:21143813_21143814insT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							AAGCCATTCAATTTTTTTTTTC	0.371													24	681	---	---	---	---					
CD93	22918	broad.mit.edu	37	20	23065523	23065523	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr20:23065523delC	ENST00000246006.4	-	1	1454	c.1307delG	c.(1306-1308)gcfs	p.G436fs		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	436	EGF-like 5; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAGAGGGGGCCCCCCGGGCC	0.637													8	897	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													8	36	---	---	---	---					
HNF4A	3172	broad.mit.edu	37	20	43052773	43052775	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr20:43052773_43052775delGCT	ENST00000316099.3	+	8	1097_1099	c.1008_1010delGCT	c.(1006-1011)gag>ga	p.EL336del	HNF4A_ENST00000443598.2_In_Frame_Del_p.EL336del|HNF4A_ENST00000457232.1_In_Frame_Del_p.EL314del|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	205	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr20:56099187delT	ENST00000426658.2	-	1	736	c.75delA	c.(73-75)aafs	p.K25fs	CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													17	2916	---	---	---	---					
SYCP2	10388	broad.mit.edu	37	20	58452518	58452519	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr20:58452518_58452519insT	ENST00000357552.3	-	33	3296_3297	c.3071_3072insA	c.(3070-3072)atafs	p.I1024fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1024					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATCTTTATAGTTTTTTTTTGT	0.327													9	316	---	---	---	---					
DIDO1	11083	broad.mit.edu	37	20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cccfs	p.P1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTGGCGGGGCGGGTGCCCTCC	0.728													14	179	---	---	---	---					
ANKRD20A11P	0	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736					NR_027270.1																						TAAAACAGCAGAAAAAATTAAT	0.272													17	377	---	---	---	---					
ANKRD20A11P	0	broad.mit.edu	37	21	15347435	15347436	+	RNA	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr21:15347435_15347436insA	ENST00000344693.5	-	0	736					NR_027270.1																						CTTCCAAATATAAAAAATTGAC	0.287													32	361	---	---	---	---					
GART	2618	broad.mit.edu	37	21	34882121	34882122	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr21:34882121_34882122insT	ENST00000381831.3	-	18	2683_2684	c.2420_2421insA	c.(2419-2421)agcfs	p.S807fs	GART_ENST00000543717.1_Frame_Shift_Ins_p.S359fs|GART_ENST00000381815.4_Frame_Shift_Ins_p.S807fs|GART_ENST00000381839.3_Frame_Shift_Ins_p.S807fs	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	807	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	p.K807fs*7(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CCACTCTGGCCTTTTTTTTTTC	0.446													13	261	---	---	---	---					
TPTEP1	0	broad.mit.edu	37	22	17127506	17127507	+	RNA	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr22:17127506_17127507insA	ENST00000426585.1	+	0	442																											AGGGCCTAGAGAAAAAAAAAAT	0.421													12	458	---	---	---	---					
HIRA	7290	broad.mit.edu	37	22	19349302	19349304	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr22:19349302_19349304delTTC	ENST00000263208.5	-	16	2182_2184	c.1926_1928delGAA	c.(1924-1929)aaa>aa	p.KK642del	HIRA_ENST00000541063.1_In_Frame_Del_p.KK598del|HIRA_ENST00000340170.4_Intron|HIRA_ENST00000546308.1_In_Frame_Del_p.KK598del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	642	Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Poly-Lys.				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)					AGGCCGCCCTTTCTTCTTCTTCT	0.537													8	1453	---	---	---	---					
HIRA	7290	broad.mit.edu	37	22	19373136	19373138	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr22:19373136_19373138delGCT	ENST00000263208.5	-	12	1491_1493	c.1235_1237delAGC	c.(1234-1239)ctg>c	p.QL412del	HIRA_ENST00000541063.1_In_Frame_Del_p.QL368del|HIRA_ENST00000340170.4_In_Frame_Del_p.QL412del|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													7	344	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)del	p.Q218del	MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	222	---	---	---	---					
CABIN1	23523	broad.mit.edu	37	22	24515602	24515602	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr22:24515602delC	ENST00000398319.2	+	28	4954	c.4569delC	c.(4567-4569)ttfs	p.F1523fs	CABIN1_ENST00000263119.5_Frame_Shift_Del_p.F1523fs|CABIN1_ENST00000405822.2_Frame_Shift_Del_p.F1444fs	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1523					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGAGCCGCTTCCCCCAGCACT	0.642													8	1655	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38120029	38120031	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr22:38120029_38120031delCCT	ENST00000406386.3	+	7	1721_1723	c.1466_1468delCCT	c.(1465-1470)gcc>g	p.AS489del	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	489					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601													21	1246	---	---	---	---					
ZC3H7B	23264	broad.mit.edu	37	22	41753399	41753401	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr22:41753399_41753401delCTG	ENST00000352645.4	+	23	3157_3159	c.2900_2902delCTG	c.(2899-2904)cct>c	p.PA967del	ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	983					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCAGAAGCCCCTGCTGCTGCTGC	0.650													9	1058	---	---	---	---					
MSL3	10943	broad.mit.edu	37	X	11783683	11783683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:11783683delA	ENST00000337339.2	+	9	1033	c.1006delA	c.(1006-1008)aafs	p.K336fs	MSL3_ENST00000380693.3_Frame_Shift_Del_p.K170fs|MSL3_ENST00000312196.4_Frame_Shift_Del_p.K336fs|MSL3_ENST00000361672.2_Frame_Shift_Del_p.K187fs|MSL3_ENST00000398527.2_Frame_Shift_Del_p.K324fs	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	336					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						AGCCACCCCCAAAAGGCGCAA	0.592													7	1532	---	---	---	---					
DDX3X	1654	broad.mit.edu	37	X	41205517	41205517	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:41205517delA	ENST00000399959.2	+	13	2206	c.1351delA	c.(1351-1353)aafs	p.K452fs	DDX3X_ENST00000457138.2_Frame_Shift_Del_p.K436fs|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	452	Helicase C-terminal.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TGTGGAGACCAAAAAGGGTGC	0.433										HNSCC(61;0.18)			7	1123	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-	rs3747282	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:50350672_50350674delTCT	ENST00000376020.2	-	6	3493_3495	c.3468_3470delAGA	c.(3466-3471)gag>ga	p.EE1156del	SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1156del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1040del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557													7	159	---	---	---	---					
EDA	1896	broad.mit.edu	37	X	68836236	68836237	+	Frame_Shift_Ins	INS	-	-	G	rs41539891		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:68836236_68836237insG	ENST00000374552.4	+	1	326_327	c.84_85insG	c.(82-87)gggggcfs	p.GG28fs	EDA_ENST00000524573.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000338901.3_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000374553.2_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000527388.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000525810.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000502251.1_3'UTR	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	28					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCGGGTGTGGCGGGGCCCCTGC	0.708													11	389	---	---	---	---					
TAF1	6872	broad.mit.edu	37	X	70602999	70603000	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:70602999_70603000insA	ENST00000449580.1	+	12	1980_1981	c.1929_1930insA	c.(1927-1932)ataaaafs	p.IK643fs	TAF1_ENST00000373790.4_Frame_Shift_Ins_p.IK643fs|TAF1_ENST00000423759.1_Frame_Shift_Ins_p.IK664fs|TAF1_ENST00000276072.3_Frame_Shift_Ins_p.IK664fs			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	643					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TAAAGCACATCAAAAAAAAGGC	0.406													9	434	---	---	---	---					
TSIX	0	broad.mit.edu	37	X	73046080	73046080	+	RNA	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:73046080delT	ENST00000604411.1	+	0	34041				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AGCCTGGCACTTTTTTTTCCC	0.423													9	808	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73960934	73960934	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:73960934delT	ENST00000373468.1	-	3	4109	c.3458delA	c.(3457-3459)acfs	p.N1153fs	KIAA2022_ENST00000055682.5_Frame_Shift_Del_p.N1153fs			Q5QGS0	K2022_HUMAN	KIAA2022	1153					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CAGGCAAGGGTTTTTTTGGAG	0.403													7	913	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939674	76939674	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:76939674delT	ENST00000373344.5	-	9	1288	c.1074delA	c.(1072-1074)aafs	p.K358fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K320fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	358					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCTCAATCAGTTTTTTTGCCT	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						9	891	---	---	---	---					
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)del	p.E171del	BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.					cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488													29	1637	---	---	---	---					
GUCY2F	2986	broad.mit.edu	37	X	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418													8	1658	---	---	---	---					
ZBTB33	10009	broad.mit.edu	37	X	119388276	119388278	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:119388276_119388278delGAT	ENST00000326624.2	+	2	1234_1236	c.1006_1008delGAT	c.(1006-1008)del	p.D340del	ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	340					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGAAATAATAGATGATGATGATG	0.433													7	1101	---	---	---	---					
HS6ST2	90161	broad.mit.edu	37	X	131762582	131762582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:131762582delA	ENST00000370836.2	-	4	1902	c.1487delT	c.(1486-1488)tgfs	p.L496fs	HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs|HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs|HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs|HS6ST2_ENST00000370837.1_Frame_Shift_Del_p.L350fs	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	496						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATACCTCTGCAAAAAAAGGTC	0.453													10	1755	---	---	---	---					
DDX26B	203522	broad.mit.edu	37	X	134680317	134680317	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:134680317delT	ENST00000370752.4	+	4	686	c.352delT	c.(352-354)ttfs	p.F119fs	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	119	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAATCCATTTTTTTTAGA	0.274													7	315	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:135314194delG	ENST00000316077.9	-	8	1142	c.922delC	c.(922-924)agfs	p.Q308fs	MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs	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													11	1976	---	---	---	---					
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:135585048_135585050delAAG	ENST00000535601.1	+	6	1104_1106	c.682_684delAAG	c.(682-684)del	p.K232del	HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335													9	929	---	---	---	---					
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-	rs7877654	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccc>cc	p.PP256del	CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													8	1455	---	---	---	---					
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)aca>ac	p.TT52del	CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR	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													17	1546	---	---	---	---					
PNMA3	29944	broad.mit.edu	37	X	152226003	152226004	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:152226003_152226004insG	ENST00000447306.1	+	2	927_928	c.591_592insG	c.(589-594)ccagggfs	p.G198fs	PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.G198fs|PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.G198fs	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	198					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ggcaggtgcccgagggggaaaa	0.574													7	659	---	---	---	---					
UBL4A	8266	broad.mit.edu	37	X	153714159	153714160	+	Frame_Shift_Ins	INS	-	-	G	rs150392222		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:153714159_153714160insG	ENST00000369660.4	-	3	398_399	c.313_314insC	c.(313-315)ccafs	p.P105fs	UBL4A_ENST00000369653.4_Frame_Shift_Ins_p.P105fs|UBL4A_ENST00000477777.1_5'UTR	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	105					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTGAAGTGGCGGGCCAAGACT	0.629													19	1502	---	---	---	---					
RNA5-8SP6	0	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrY:10037863delC	ENST00000515896.1	+	0	100																											ATCGACACTTCGAACGCACTT	0.552													13	159	---	---	---	---					
CAMTA1	23261	broad.mit.edu	37	1	7811329	7811329	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:7811329delA	ENST00000303635.7	+	20	4967	c.4760delA	c.(4759-4761)cafs	p.Q1587fs	CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs|CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1587	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.K1589fs*33(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TACTATGAACAAAAAAAATTC	0.473			T	WWTR1	epitheliod hemangioendothelioma								11	2023	---	---	---	---					
CLSTN1	22883	broad.mit.edu	37	1	9790640	9790642	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:9790640_9790642delCCT	ENST00000377298.4	-	19	3662_3664	c.2870_2872delAGG	c.(2869-2874)ggg>g	p.EG957del	CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000361311.4_In_Frame_Del_p.EG947del|CLSTN1_ENST00000377288.3_In_Frame_Del_p.EG938del	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													8	581	---	---	---	---					
AADACL3	126767	broad.mit.edu	37	1	12785494	12785494	+	Frame_Shift_Del	DEL	G	G	-	rs7513079	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:12785494delG	ENST00000332530.3	+	3	600	c.374delG	c.(373-375)ttfs	p.C125fs	AADACL3_ENST00000359318.5_Frame_Shift_Del_p.C195fs	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	195							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTGCTACTGTTTTTTTCAA	0.458													7	1591	---	---	---	---					
CROCCP2	0	broad.mit.edu	37	1	16953827	16953828	+	RNA	INS	-	-	C	rs57007114		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:16953827_16953828insC	ENST00000412962.1	-	0	477																											TCACTTTCCTGCCCGAACCTCC	0.609													7	300	---	---	---	---					
EPHB2	2048	broad.mit.edu	37	1	23240246	23240246	+	Frame_Shift_Del	DEL	A	A	-	rs56871920		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:23240246delA	ENST00000400191.3	+	17	3069	c.3051delA	c.(3049-3051)ggfs	p.G1017fs	EPHB2_ENST00000374632.3_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	1017					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAAACGACGGAAAAAAAAAGG	0.498													7	116	---	---	---	---					
PEF1	553115	broad.mit.edu	37	1	32100889	32100890	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:32100889_32100890insG	ENST00000373703.4	-	2	280_281	c.258_259insC	c.(256-261)ccggggfs	p.PG86fs	PEF1_ENST00000440872.2_Frame_Shift_Ins_p.PG86fs|PEF1_ENST00000492061.1_5'UTR	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	86	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		TAGGGGCCCCCGGGAGCTGCAC	0.604													16	525	---	---	---	---					
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													11	1584	---	---	---	---					
DLGAP3	58512	broad.mit.edu	37	1	35365852	35365852	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:35365852delC	ENST00000373347.1	-	4	1398	c.1130delG	c.(1129-1131)gtfs	p.G377fs	DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.G377fs			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	377					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGTGGGGTAACCCCCCCAGTC	0.602													8	892	---	---	---	---					
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:39799059_39799060insG	ENST00000564288.1	+	37	7576_7577	c.6799_6800insG	c.(6799-6801)ggafs	p.G2267fs	MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391													131	537	---	---	---	---					
BMP8A	353500	broad.mit.edu	37	1	39988692	39988692	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:39988692delC	ENST00000331593.5	+	6	1308	c.962delC	c.(961-963)gcfs	p.A321fs	RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	321					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-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;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGGTCATCGCCCCCCAAGGC	0.642													8	1419	---	---	---	---					
ZMPSTE24	10269	broad.mit.edu	37	1	40735757	40735757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:40735757delT	ENST00000372759.3	+	5	750	c.585delT	c.(583-585)tafs	p.Y195fs		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	195						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GGGGTGACTATTTTTTTATTT	0.333													8	1516	---	---	---	---					
STIL	6491	broad.mit.edu	37	1	47717309	47717309	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:47717309delT	ENST00000360380.3	-	18	3726	c.3363delA	c.(3361-3363)aafs	p.K1121fs	STIL_ENST00000337817.5_Frame_Shift_Del_p.K1121fs|STIL_ENST00000243182.6_Frame_Shift_Del_p.K1121fs|STIL_ENST00000371877.3_Frame_Shift_Del_p.K1122fs|STIL_ENST00000396221.2_Frame_Shift_Del_p.K1104fs			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1121					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCTTCATATATTTTTTGGTTG	0.373													7	1261	---	---	---	---					
DAB1	1600	broad.mit.edu	37	1	57537235	57537235	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:57537235delT	ENST00000371236.2	-	6	781	c.518delA	c.(517-519)agfs	p.K173fs	DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371231.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000414851.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371234.4_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371230.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Frame_Shift_Del_p.K173fs			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	173	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTTTGTGCCTTTTTTTCTAA	0.393													8	461	---	---	---	---					
TYW3	127253	broad.mit.edu	37	1	75229742	75229744	+	In_Frame_Del	DEL	ATG	ATG	-	rs112765232		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:75229742_75229744delATG	ENST00000370867.3	+	6	814_816	c.725_727delATG	c.(724-729)aat>a	p.ND242del	TYW3_ENST00000421739.2_In_Frame_Del_p.ND158del|TYW3_ENST00000479111.1_3'UTR|TYW3_ENST00000457880.2_In_Frame_Del_p.ND209del	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	242					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GAACTTGAAAATGATGATGATGA	0.330													8	659	---	---	---	---					
GBP3	2635	broad.mit.edu	37	1	89473441	89473442	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:89473441_89473442insT	ENST00000370481.4	-	11	1973_1974	c.1753_1754insA	c.(1753-1755)caafs	p.Q585fs		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	585						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		ATATCTCTTGGTTTTTTTTTTC	0.371													50	1009	---	---	---	---					
GBP5	115362	broad.mit.edu	37	1	89732166	89732166	+	Frame_Shift_Del	DEL	T	T	-	rs34148688		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:89732166delT	ENST00000343435.5	-	7	1267	c.731delA	c.(730-732)agfs	p.K244fs	GBP5_ENST00000370459.3_Frame_Shift_Del_p.K244fs|GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	244						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TTGGGCAAGCTTTTTTTGGTG	0.388													9	1081	---	---	---	---					
FNDC7	163479	broad.mit.edu	37	1	109276138	109276138	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:109276138delA	ENST00000370017.3	+	10	2401	c.2124delA	c.(2122-2124)ccfs	p.P708fs	FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	709	Fibronectin type-III 8.					extracellular region		p.I478fs*4(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTTCTGTCCAAAAAAAATAT	0.363													8	493	---	---	---	---					
RP11-343N15.1	0	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:121116645delT	ENST00000437515.1	-	0	329																											CAAGCCCCCCTTTAAAAAAAA	0.393													22	377	---	---	---	---					
RP11-417J8.6	0	broad.mit.edu	37	1	142713977	142713977	+	RNA	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:142713977delT	ENST00000369381.2	-	0	628																											ATCCATATACTAAAAAGGTTA	0.294													22	103	---	---	---	---					
ANKRD20A12P	0	broad.mit.edu	37	1	142716575	142716578	+	RNA	DEL	AAAC	AAAC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:142716575_142716578delAAAC	ENST00000595144.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422													12	655	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	RNA	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317													10	652	---	---	---	---					
PDE4DIP	9659	broad.mit.edu	37	1	144923716	144923716	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:144923716delT	ENST00000529945.1	-	2	1670	c.1231delA	c.(1231-1233)tcfs	p.I411fs	PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.I385fs|PDE4DIP_ENST00000479408.2_Frame_Shift_Del_p.I35fs|PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.I385fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.I314fs|PDE4DIP_ENST00000313431.9_Frame_Shift_Del_p.I411fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.I248fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Del_p.I248fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Del_p.I248fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.I248fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	248					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTTGCTGGATTTTTTCCTGG	0.453			T	PDGFRB	MPD								7	1730	---	---	---	---					
NBPF10	100132406	broad.mit.edu	37	1	145328401	145328406	+	In_Frame_Del	DEL	GAAGAC	GAAGAC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:145328401_145328406delGAAGAC	ENST00000342960.5	+	33	4284_4289	c.4249_4254delGAAGAC	c.(4249-4254)del	p.ED1419del	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1419										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGAAGAGGAAGAAGACGAAGACCAAG	0.466													3	5	---	---	---	---					
PVRL4	81607	broad.mit.edu	37	1	161044057	161044059	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:161044057_161044059delCAC	ENST00000368012.3	-	6	1407_1409	c.1105_1107delGTG	c.(1105-1107)del	p.V369del	PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	369					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGGACATGAGCACCACCACCACC	0.571													7	572	---	---	---	---					
NR1I3	0	broad.mit.edu	37	1	161202999	161203000	+	Frame_Shift_Ins	INS	-	-	G	rs139473535	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:161202999_161203000insG	ENST00000367983.4	-	4	661_662	c.367_368insC	c.(367-369)ccafs	p.P123fs	NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511944.1_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	123					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCCATGTGGCGGGTGTGGGCC	0.564													9	1332	---	---	---	---					
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:183515266_183515267insA	ENST00000367537.3	+	18	2680_2681	c.2485_2486insA	c.(2485-2487)aaafs	p.K829fs	SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.450													15	685	---	---	---	---					
EPHX1	2052	broad.mit.edu	37	1	226026384	226026384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:226026384delC	ENST00000366837.4	+	4	590	c.394delC	c.(394-396)ccfs	p.P133fs	EPHX1_ENST00000272167.5_Frame_Shift_Del_p.P133fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	133					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CCACGTGAAGCCCCCCCAGCT	0.627													7	1400	---	---	---	---					
PARP1	142	broad.mit.edu	37	1	226570820	226570820	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:226570820delG	ENST00000366794.5	-	8	1219	c.1076delC	c.(1075-1077)cafs	p.P359fs		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	359					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCTGGTTTCTGGGGGGAATAT	0.502								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					10	2316	---	---	---	---					
RHOU	58480	broad.mit.edu	37	1	228879333	228879333	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:228879333delA	ENST00000366691.3	+	3	1289	c.623delA	c.(622-624)cafs	p.Q208fs		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	208					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				GCCTTGACTCAAAAAAACCTC	0.493													7	1004	---	---	---	---					
RYR2	6262	broad.mit.edu	37	1	237969494	237969494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:237969494delT	ENST00000366574.2	+	99	14526	c.14209delT	c.(14209-14211)ttfs	p.F4739fs	RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4739					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTATAACAACTTTTTTTTTGC	0.403													12	306	---	---	---	---					
CHRM3	1131	broad.mit.edu	37	1	240072444	240072444	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:240072444delA	ENST00000255380.4	+	5	2472	c.1693delA	c.(1693-1695)aafs	p.K567fs		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	567					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.R568fs*>24(1)|p.K567fs*>24(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCAGTGTGACAAAAAAAAGAG	0.502													8	498	---	---	---	---					
OR2T7	81458	broad.mit.edu	37	1	248604559	248604560	+	Frame_Shift_Ins	INS	-	-	TC	rs58223479	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr1:248604559_248604560insTC	ENST00000460972.3	+	1	52_53	c.52_53insTC	c.(52-54)cttfs	p.L18fs						olfactory receptor, family 2, subfamily T, member 7																		TTCCCCTGGCTTCTTTGCCCTC	0.515													8	319	---	---	---	---					
ITSN2	50618	broad.mit.edu	37	2	24533400	24533401	+	Frame_Shift_Ins	INS	-	-	G	rs138525854	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr2:24533400_24533401insG	ENST00000355123.4	-	6	956_957	c.513_514insC	c.(511-516)acccagfs	p.Q172fs	ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.Q172fs|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.Q172fs	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	172					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAGACTGGCGGTTCCATTTG	0.411													19	614	---	---	---	---					
FAM98A	25940	broad.mit.edu	37	2	33813402	33813402	+	Splice_Site	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr2:33813402delT	ENST00000403368.1	-	4	591	c.522_splice	c.e4+1	p.K174_splice	FAM98A_ENST00000441530.2_Intron|FAM98A_ENST00000238823.8_Splice_Site_p.K174_splice|FAM98A_ENST00000498340.1_Intron	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	175										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					AAGGTCTTACTTTTTTTTCAA	0.338													9	801	---	---	---	---					
AC007092.1	0	broad.mit.edu	37	2	58688842	58688843	+	RNA	DEL	CT	CT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr2:58688842_58688843delCT	ENST00000452840.1	+	0	127																											TCTCTGCTAGCTCTCTCTCTCT	0.465													7	321	---	---	---	---					
AFTPH	54812	broad.mit.edu	37	2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)del	p.D26del	AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409													8	819	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91887904	91887905	+	RNA	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr2:91887904_91887905insT	ENST00000436174.1	-	0	540																											AGCTATTTTCCATTTTTTTTTT	0.292													7	288	---	---	---	---					
ANKRD20A8P	0	broad.mit.edu	37	2	95513688	95513689	+	RNA	INS	-	-	TA			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr2:95513688_95513689insTA	ENST00000432432.2	-	0	850					NR_040113.1																						CTCACCTAATGTATAAGATGGA	0.327													26	611	---	---	---	---					
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr2:109087883_109087884insA	ENST00000309863.6	+	6	2812_2813	c.2098_2099insA	c.(2098-2100)aaafs	p.K700fs		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307													14	1557	---	---	---	---					
GCC2	9648	broad.mit.edu	37	2	109087914	109087914	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr2:109087914delT	ENST00000309863.6	+	6	2843	c.2129delT	c.(2128-2130)gtfs	p.V710fs		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	710					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GATTTGGAGGTTTTTTTGTCT	0.299													7	1647	---	---	---	---					
ACVR2A	92	broad.mit.edu	37	2	148683685	148683686	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr2:148683685_148683686insA	ENST00000241416.7	+	10	1938_1939	c.1302_1303insA	c.(1300-1305)caaaaafs	p.QK434fs	ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.QK434fs|ACVR2A_ENST00000535787.1_Frame_Shift_Ins_p.QK326fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	434	Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTGTTGTGCATAAAAAAAAGAG	0.366													10	703	---	---	---	---					
PLA2R1	0	broad.mit.edu	37	2	160801441	160801442	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr2:160801441_160801442insT	ENST00000283243.7	-	28	4325_4326	c.4119_4120insA	c.(4117-4122)aagcttfs	p.L1374fs	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1374	C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATATAAAGCCTTTTTTTTCTT	0.401													9	1005	---	---	---	---					
CIR1	9541	broad.mit.edu	37	2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)acafs	p.T289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381													8	330	---	---	---	---					
SLC4A3	6508	broad.mit.edu	37	2	220496799	220496801	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr2:220496799_220496801delGAA	ENST00000358055.3	+	7	1433_1435	c.921_923delGAA	c.(919-924)agg>ag	p.RK307del	SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	307					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTCGCAGGAAGAAGAAGAAG	0.650													8	499	---	---	---	---					
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:5248941delT	ENST00000256497.4	+	7	1454	c.1321delT	c.(1321-1323)ttfs	p.F442fs	EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	442					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463													7	914	---	---	---	---					
PRRT3	285368	broad.mit.edu	37	3	9991858	9991859	+	Splice_Site	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:9991858_9991859insA	ENST00000412055.1	-	2	73		c.e2-2		PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Splice_Site	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3							integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TGGATGAGCCTAAAAAAAAAAC	0.574													8	64	---	---	---	---					
AC022007.5	0	broad.mit.edu	37	3	10049093	10049094	+	RNA	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:10049093_10049094insG	ENST00000383808.2	-	0	904_905																											GGGTCAGTGGCGGGGTGTGGTC	0.589													10	529	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													10	52	---	---	---	---					
NKTR	4820	broad.mit.edu	37	3	42679035	42679036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:42679035_42679036insC	ENST00000232978.8	+	13	2027_2028	c.1839_1840insC	c.(1837-1842)agccccfs	p.SP613fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	613					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGTGACAGTCCCCCCCCTTC	0.421													13	1506	---	---	---	---					
USP4	7375	broad.mit.edu	37	3	49321969	49321971	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	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	864	---	---	---	---					
PARP3	10039	broad.mit.edu	37	3	51978150	51978152	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:51978150_51978152delAAC	ENST00000417220.2	+	4	717_719	c.229_231delAAC	c.(229-231)del	p.N80del	PARP3_ENST00000431474.1_In_Frame_Del_p.N80del|PARP3_ENST00000398755.3_In_Frame_Del_p.N87del			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	80				N -> K (in Ref. 2; AAD29855).	DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAACATCGAGAACAACAACAACA	0.596													7	1804	---	---	---	---					
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Translation_Start_Site	DEL	GAT	GAT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:53529193_53529195delGAT	ENST00000288139.3	+	0	118_120				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581													24	834	---	---	---	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)cat>ca	p.HH931del		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	931	Poly-His.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502													8	1581	---	---	---	---					
APPL1	26060	broad.mit.edu	37	3	57276921	57276921	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:57276921delA	ENST00000288266.3	+	7	600	c.453delA	c.(451-453)tcfs	p.S151fs		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	151	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	p.R154fs*6(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCCGTTTATCAAAAAAAAGAG	0.299													8	333	---	---	---	---					
LINC00971	0	broad.mit.edu	37	3	84741480	84741480	+	RNA	DEL	A	A	-	rs140144338		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1																						CCTGTCCCAGAAAAAAAAAAA	0.388													14	35	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	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													16	2050	---	---	---	---					
TRMT10C	54931	broad.mit.edu	37	3	101284009	101284009	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	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													22	318	---	---	---	---					
MORC1	27136	broad.mit.edu	37	3	108682418	108682419	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:108682418_108682419insT	ENST00000232603.5	-	27	2723_2724	c.2641_2642insA	c.(2641-2643)aaafs	p.K881fs	MORC1_ENST00000483760.1_Frame_Shift_Ins_p.K860fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	881					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTCCTCTTTATTTTTTTTTCA	0.287													10	349	---	---	---	---					
KIAA2018	205717	broad.mit.edu	37	3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:113380090delT	ENST00000316407.4	-	7	849	c.439delA	c.(439-441)ttfs	p.I148fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	148					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373													9	720	---	---	---	---					
MYLK	4638	broad.mit.edu	37	3	123368043	123368044	+	Splice_Site	INS	-	-	G	rs138786404		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:123368043_123368044insG	ENST00000360772.3	-	26	4667		c.e26-2		MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000346322.5_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site			Q15746	MYLK_HUMAN	myosin light chain kinase						aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624													10	601	---	---	---	---					
FAM86JP	0	broad.mit.edu	37	3	125647339	125647339	+	RNA	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:125647339delC	ENST00000485843.1	+	0	484					NR_024251.1																						TGTTTCCAGGCCAGGCCAGGA	0.557													9	678	---	---	---	---					
ZXDC	79364	broad.mit.edu	37	3	126178522	126178522	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:126178522delT	ENST00000389709.3	-	7	2239	c.2186delA	c.(2185-2187)agfs	p.K729fs		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	729					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCCTCTCTGCTTTTTTTCCTT	0.522													13	3209	---	---	---	---					
UROC1	131669	broad.mit.edu	37	3	126220105	126220106	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:126220105_126220106insT	ENST00000290868.2	-	10	973_974	c.920_921insA	c.(919-921)agafs	p.R307fs	UROC1_ENST00000383579.3_Frame_Shift_Ins_p.R367fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	307					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGAGCACCTCCTTTTTTTTCCT	0.584													9	1627	---	---	---	---					
H1FOO	132243	broad.mit.edu	37	3	129268107	129268108	+	Frame_Shift_Ins	INS	-	-	A	rs150160917	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:129268107_129268108insA	ENST00000324382.2	+	3	647_648	c.642_643insA	c.(640-645)gcggaafs	p.E215fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.E76fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	215					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						CGGGAGAGGCTAGGAAGGTGCC	0.653													7	95	---	---	---	---					
TOPBP1	11073	broad.mit.edu	37	3	133329879	133329880	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:133329879_133329880insT	ENST00000260810.5	-	25	4272_4273	c.4141_4142insA	c.(4141-4143)ccafs	p.P1381fs		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1381					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCTTTGCTGGATTTTTTTTCTC	0.342								Other conserved DNA damage response genes					8	903	---	---	---	---					
RAP2B	5912	broad.mit.edu	37	3	152880927	152880962	+	In_Frame_Del	DEL	AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	-	rs138892831		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:152880927_152880962delAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	ENST00000323534.2	+	1	899_934	c.445_480delAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	c.(445-480)del	p.NKASVDELFAEI149del		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	149					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GTCGGCCAAAAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATCGTGCGGCAGA	0.661													11	108	---	---	---	---					
RP11-3P17.4	0	broad.mit.edu	37	3	161146872	161146873	+	RNA	DEL	AT	AT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231					NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342													13	144	---	---	---	---					
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A	rs150885877	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)tttfs	p.F156fs	TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446													7	1158	---	---	---	---					
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:186362544delA	ENST00000265029.3	+	4	530	c.429delA	c.(427-429)tcfs	p.S143fs	RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000539949.1_5'UTR|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418													13	741	---	---	---	---					
FETUB	26998	broad.mit.edu	37	3	186370137	186370137	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:186370137delC	ENST00000265029.3	+	7	967	c.866delC	c.(865-867)acfs	p.T289fs	RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Frame_Shift_Del_p.T224fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.T252fs|FETUB_ENST00000539949.1_Frame_Shift_Del_p.T141fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.T289fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	289						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAGAAAAACACCCCCCCAACA	0.498													8	1569	---	---	---	---					
PAK2	5062	broad.mit.edu	37	3	196541368	196541368	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr3:196541368delG	ENST00000327134.3	+	11	1304	c.982delG	c.(982-984)ggfs	p.G329fs		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	329	Protein kinase.			G -> R (in Ref. 3; AAA75468).	axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ATACCTTGCTGGGGGGTCACT	0.408													7	1063	---	---	---	---					
HTT	3064	broad.mit.edu	37	4	3216905	3216907	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:3216905_3216907delGAG	ENST00000355072.5	+	51	7166_7168	c.7021_7023delGAG	c.(7021-7023)del	p.E2345del		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2345	Poly-Glu.				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCCATCAGCGAGGAGGAGGAGG	0.424													7	289	---	---	---	---					
LRPAP1	4043	broad.mit.edu	37	4	3516576	3516582	+	Frame_Shift_Del	DEL	AGCTTCT	AGCTTCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:3516576_3516582delAGCTTCT	ENST00000500728.2	-	7	1054_1060	c.908_914delAGAAGCT	c.(907-915)ggfs	p.EKL303fs	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	303	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TGCGTGCCTCAGCTTCTCGTGCGCAAT	0.614													232	576	---	---	---	---					
LDB2	9079	broad.mit.edu	37	4	16504316	16504317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:16504316_16504317insG	ENST00000304523.5	-	8	1394_1395	c.1071_1072insC	c.(1069-1074)ccccacfs	p.H358fs	LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000502640.1_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Frame_Shift_Ins_p.H356fs	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	358							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TCTTGAGTGGCGGGAGGTTTAC	0.540													15	1910	---	---	---	---					
RBPJ	3516	broad.mit.edu	37	4	26417145	26417146	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:26417145_26417146insA	ENST00000342320.4	+	4	377_378	c.201_202insA	c.(199-204)aaaaaafs	p.KK67fs	RBPJ_ENST00000504907.1_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.KK68fs|RBPJ_ENST00000361572.6_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.KK66fs|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.KK46fs|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.KK67fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	81					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTGGATGGAAGAAAAAAAAAGA	0.371													22	956	---	---	---	---					
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)ttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGCTCAGGTCAAAAAAAATTG	0.294													7	421	---	---	---	---					
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:71554620_71554622delGAG	ENST00000254803.2	+	1	425_427	c.226_228delGAG	c.(226-228)del	p.E81del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	81	Glu-rich.				brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567													15	305	---	---	---	---					
BMP2K	55589	broad.mit.edu	37	4	79792161	79792169	+	In_Frame_Del	DEL	CAGCACCAC	CAGCACCAC	-	rs2114202	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:79792161_79792169delCAGCACCAC	ENST00000335016.5	+	11	1622_1630	c.1456_1464delCAGCACCAC	c.(1456-1464)del	p.QHH486del	BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	486	Gln/His-rich.		Q -> H (in dbSNP:rs2114202).	Missing (in Ref. 2; CAB70863).		nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcagcaccaccaccaccacc	0.488													8	401	---	---	---	---					
SEC31A	22872	broad.mit.edu	37	4	83785564	83785565	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:83785564_83785565insT	ENST00000432794.1	-	11	1547_1548	c.1384_1385insA	c.(1384-1386)tgafs	p.*462fs	SEC31A_ENST00000395310.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.*234fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.*457fs|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.*462fs			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	462	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	p.I462fs*16(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AGAAGCATCAATTTTTTTTTGG	0.356													12	442	---	---	---	---					
MMRN1	22915	broad.mit.edu	37	4	90844391	90844393	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	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													8	1620	---	---	---	---					
CFI	3426	broad.mit.edu	37	4	110662159	110662159	+	Frame_Shift_Del	DEL	C	C	-	rs7437875	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:110662159delC	ENST00000394634.2	-	13	1849	c.1642delG	c.(1642-1644)aafs	p.E548fs	CFI_ENST00000512148.1_Frame_Shift_Del_p.E541fs|CFI_ENST00000394635.3_Frame_Shift_Del_p.E556fs	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	548	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CCACAGTTTTCCCCCCAACTC	0.463													9	2110	---	---	---	---					
SEC24D	9871	broad.mit.edu	37	4	119745869	119745870	+	Frame_Shift_Ins	INS	-	-	G	rs141446866		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:119745869_119745870insG	ENST00000379735.5	-	3	424_425	c.153_154insC	c.(151-156)acccacfs	p.H52fs	SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.H52fs|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	52	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CCCCTAGTGGCGGTGGCCCCCA	0.540													8	1085	---	---	---	---					
SEC24D	9871	broad.mit.edu	37	4	119745872	119745873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:119745872_119745873insG	ENST00000379735.5	-	3	421_422	c.150_151insC	c.(148-153)gcccgcfs	p.R51fs	SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.R51fs|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	51	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CTAGTGGCGGTGGCCCCCAAAG	0.540													7	967	---	---	---	---					
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:123302211delA	ENST00000296513.2	+	4	422	c.237delA	c.(235-237)ccfs	p.P79fs	ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs	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													8	523	---	---	---	---					
SCLT1	132320	broad.mit.edu	37	4	129864163	129864163	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:129864163delT	ENST00000281142.5	-	17	2123	c.1620delA	c.(1618-1620)aafs	p.K540fs	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	540						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTACTTTGGCTTTTTTTTGAG	0.353													7	574	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													13	569	---	---	---	---					
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:174253277_174253279delTCC	ENST00000296503.5	-	5	1455_1457	c.582_584delGGA	c.(580-585)gaa>ga	p.EE196del	HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del			P26583	HMGB2_HUMAN	high mobility group box 2	196	Asp/Glu-rich (acidic).				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468													7	662	---	---	---	---					
TENM3	55714	broad.mit.edu	37	4	183609359	183609359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:183609359delG	ENST00000511685.1	+	12	2199	c.2076delG	c.(2074-2076)atfs	p.M692fs	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs					teneurin transmembrane protein 3																		GCGTTTGCATGGGGGGGACGT	0.592													7	1196	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaa>a	p.KE85del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	85					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414													11	1113	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190882978	190882980	+	Splice_Site	DEL	AAG	AAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr4:190882978_190882980delAAG	ENST00000226798.4	+	8	853_855	c.629_splice	c.e8-1	p.K212_splice		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	212					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCTTTACAGAAAGAAATTTCAGA	0.276													7	1347	---	---	---	---					
TRIO	7204	broad.mit.edu	37	5	14358383	14358385	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr5:14358383_14358385delCAG	ENST00000344204.4	+	12	2167_2169	c.2143_2145delCAG	c.(2143-2145)del	p.Q718del	TRIO_ENST00000509967.2_In_Frame_Del_p.Q669del|TRIO_ENST00000537187.1_In_Frame_Del_p.Q718del	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	718	Poly-Gln.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCGCTTTGGCCAGCAGCAGCAGA	0.631													11	777	---	---	---	---					
MYO10	4651	broad.mit.edu	37	5	16694605	16694606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr5:16694605_16694606insC	ENST00000513610.1	-	27	4128_4129	c.3674_3675insG	c.(3673-3675)gtcfs	p.V1225fs	MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1225	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564													9	871	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)tcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)			11	1146	---	---	---	---					
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr5:32419951_32419953delGGT	ENST00000265069.8	-	3	495_497	c.393_395delACC	c.(391-396)ccc>cc	p.PP131del		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	131	Ala-rich.				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)		AGTAGCTGGGGGTGGTGGTGGTG	0.483													12	1183	---	---	---	---					
C6	729	broad.mit.edu	37	5	41160299	41160300	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr5:41160299_41160300delAC	ENST00000263413.3	-	11	1892_1893	c.1628_1629delGT	c.(1627-1629)tfs	p.C543fs	C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	543	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCCACTCTGACACACACACAG	0.475													7	966	---	---	---	---					
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)ttt>t	p.CF23del		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537													8	478	---	---	---	---					
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgt>tg	p.CD663del	THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	663					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562													19	1790	---	---	---	---					
DMXL1	1657	broad.mit.edu	37	5	118525523	118525524	+	Frame_Shift_Ins	INS	-	-	G	rs17144964	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr5:118525523_118525524insG	ENST00000311085.8	+	29	7336_7337	c.7256_7257insG	c.(7255-7257)ggtfs	p.G2419fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.G2419fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2419										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAGTCACTGGCGGTTAAAGAAA	0.421													12	892	---	---	---	---					
VDAC1	7416	broad.mit.edu	37	5	133316639	133316639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr5:133316639delT	ENST00000265333.3	-	6	576	c.332delA	c.(331-333)atfs	p.N111fs	VDAC1_ENST00000395047.2_Frame_Shift_Del_p.N111fs|VDAC1_ENST00000395044.3_Frame_Shift_Del_p.N111fs	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	111					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GATTTTAGCATTTTTTTTCCT	0.403													8	482	---	---	---	---					
ANKHD1	54882	broad.mit.edu	37	5	139905676	139905676	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr5:139905676delA	ENST00000297183.6	+	26	4712	c.4588delA	c.(4588-4590)aafs	p.K1531fs	ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTTTGGGAAAAAAAGGGC	0.423													12	1409	---	---	---	---					
RBM27	54439	broad.mit.edu	37	5	145647319	145647320	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr5:145647319_145647320insA	ENST00000265271.5	+	15	2605_2606	c.2439_2440insA	c.(2437-2442)ctaaaafs	p.LK813fs	RBM27_ENST00000506502.1_Frame_Shift_Ins_p.LK758fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	813					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.K816fs*5(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAAGTGCTTAAAAAAAAACA	0.351													12	515	---	---	---	---					
HMMR	3161	broad.mit.edu	37	5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr5:162917425_162917426insA	ENST00000416990.2	+	17	2144_2145	c.1647_1648insA	c.(1645-1650)gcaaaafs	p.AK549fs	HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	663						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		GTCAGCTTGCTAAAAAAAAACA	0.307													9	519	---	---	---	---					
STK10	6793	broad.mit.edu	37	5	171517345	171517345	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr5:171517345delT	ENST00000176763.5	-	10	1919	c.1576delA	c.(1576-1578)ccfs	p.T526fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGCTTGAGGGTTTTTTTGTAC	0.517													8	1676	---	---	---	---					
CANX	821	broad.mit.edu	37	5	179149920	179149920	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr5:179149920delT	ENST00000247461.4	+	11	1498	c.1298delT	c.(1297-1299)atfs	p.I433fs	CANX_ENST00000452673.2_Frame_Shift_Del_p.I433fs|CANX_ENST00000415618.2_Frame_Shift_Del_p.I468fs|CANX_ENST00000504734.1_Frame_Shift_Del_p.I433fs|CANX_ENST00000512607.2_Frame_Shift_Del_p.I325fs	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	433				SDI -> LTF (in Ref. 9; AAA35696).	post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTCTGACATTTTTTTTGAC	0.423													8	637	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													36	688	---	---	---	---					
CYP21A1P	0	broad.mit.edu	37	6	31975223	31975224	+	RNA	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	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	845	---	---	---	---					
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)ggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493													8	1451	---	---	---	---					
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)ccgcgg>ccGGCgcgg	p.389_390PR>PAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													25	239	---	---	---	---					
CPVL	54504	broad.mit.edu	37	7	29070262	29070262	+	Frame_Shift_Del	DEL	T	T	-	rs5883182		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:29070262delT	ENST00000409850.1	-	16	1897	c.1251delA	c.(1249-1251)aafs	p.K417fs	CPVL_ENST00000265394.5_Frame_Shift_Del_p.K417fs|CPVL_ENST00000396276.3_Frame_Shift_Del_p.K417fs			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	417					proteolysis		protein binding|serine-type carboxypeptidase activity	p.V418fs*24(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCTTCCAAACTTTTTTTTCTG	0.507													9	1045	---	---	---	---					
BBS9	27241	broad.mit.edu	37	7	33312723	33312723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:33312723delT	ENST00000242067.6	+	8	1323	c.802delT	c.(802-804)ttfs	p.F269fs	BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	269					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGAGAGAAACTTTTTTTGCCT	0.393									Bardet-Biedl syndrome				12	1103	---	---	---	---					
TRGC2	0	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330																											TTATTTGTCAAGgtgtgtgtgt	0.391													47	563	---	---	---	---					
TRGC1	0	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													15	890	---	---	---	---					
ADCY1	107	broad.mit.edu	37	7	45614538	45614540	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:45614538_45614540delCTT	ENST00000297323.7	+	1	418_420	c.396_398delCTT	c.(394-399)acc>ac	p.TF132del	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	132					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	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCAGCCTCACCTTCGCGCTGCTC	0.719													115	186	---	---	---	---					
ZNF733P	0	broad.mit.edu	37	7	62752415	62752416	+	RNA	INS	-	-	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:62752415_62752416insC	ENST00000331425.6	-	0	1019_1020					NR_003952.1																						GCATAGGGTTTTCTCTAGTATG	0.421													8	309	---	---	---	---					
CCT6P3	0	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621					NR_033416.1																						CTTTCTGTAACTTTTTTTTTTT	0.317													10	115	---	---	---	---					
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408													18	933	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82595446	82595447	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:82595446_82595447insT	ENST00000423517.2	-	4	3994_3995	c.3657_3658insA	c.(3655-3660)aataatfs	p.NN1219fs	PCLO_ENST00000333891.8_Frame_Shift_Ins_p.NN1219fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1158					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAGGGATTAGTTTTTTTTCTT	0.386													7	1527	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:91671392_91671393delAG	ENST00000359028.2	+	20	5211_5212	c.4986_4987delAG	c.(4984-4989)tcagfs	p.SE1662fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1662					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid								8	522	---	---	---	---					
CYP51A1	1595	broad.mit.edu	37	7	91752494	91752494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:91752494delT	ENST00000003100.8	-	7	1191	c.1026delA	c.(1024-1026)aafs	p.K342fs	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	336					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTAAATAACATTTTTTTTGAA	0.398													18	1476	---	---	---	---					
CCDC132	55610	broad.mit.edu	37	7	92923947	92923948	+	Splice_Site	INS	-	-	G	rs140810598	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:92923947_92923948insG	ENST00000544910.1	+	15	1296_1297	c.1077_splice	c.e15+1	p.R359_splice	CCDC132_ENST00000305866.5_Splice_Site_p.R389_splice|CCDC132_ENST00000535481.1_Splice_Site_p.R109_splice|CCDC132_ENST00000541136.1_Splice_Site_p.R200_splice|CCDC132_ENST00000317751.6_Splice_Site_p.R120_splice	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	389										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CGAATATGGCAGGTTTGGtttt	0.272													8	1023	---	---	---	---					
CYP3A7	1551	broad.mit.edu	37	7	99328707	99328707	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:99328707delA	ENST00000336374.2	-	2	142	c.140delT	c.(139-141)tgfs	p.L47fs		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	47					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AGCATTTCCCAAAAAAGGCAG	0.413													11	2076	---	---	---	---					
MEPCE	56257	broad.mit.edu	37	7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-	rs71555278		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgc>cg	p.RH394del	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	394							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGAGGCCGCCACCACCACCAC	0.581													26	1842	---	---	---	---					
TSC22D4	81628	broad.mit.edu	37	7	100075542	100075543	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:100075542_100075543insG	ENST00000300181.2	-	2	873_874	c.119_120insC	c.(118-120)cccfs	p.P40fs	TSC22D4_ENST00000393991.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	40					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGCGGGGCGGGGGCCCGGT	0.708													7	170	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100283635	100283637	+	In_Frame_Del	DEL	TCC	TCC	-	rs142340746		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:100283635_100283637delTCC	ENST00000275732.5	-	9	2223_2225	c.1014_1016delGGA	c.(1012-1017)gaa>ga	p.EE338del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	338	Poly-Glu.									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)					TTCGGAAGGTTCCTCCTCCTCCT	0.675													10	858	---	---	---	---					
UFSP1	402682	broad.mit.edu	37	7	100486697	100486697	+	Frame_Shift_Del	DEL	C	C	-	rs138095729		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:100486697delC	ENST00000388761.2	-	1	642	c.196delG	c.(196-198)acfs	p.D66fs		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	66										lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCATCTGCGTCCCCCCCAACC	0.647													10	1233	---	---	---	---					
CNOT4	4850	broad.mit.edu	37	7	135047688	135047688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:135047688delG	ENST00000541284.1	-	12	2421	c.2091delC	c.(2089-2091)ccfs	p.P697fs	CNOT4_ENST00000423368.2_Frame_Shift_Del_p.P626fs|CNOT4_ENST00000451834.1_Frame_Shift_Del_p.P694fs|CNOT4_ENST00000361528.4_Frame_Shift_Del_p.P623fs	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	366					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GGGTTTTGCTGGGGGGTCTGA	0.532													7	1708	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151874148	151874148	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:151874148delT	ENST00000355193.2	-	38	8608	c.8390delA	c.(8389-8391)agfs	p.K2797fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.K2797fs					lysine (K)-specific methyltransferase 2C									p.K2797fs*26(20)									TTCTTGTTCCTTTTTTTTTGG	0.348													23	386	---	---	---	---					
XRCC2	7516	broad.mit.edu	37	7	152346220	152346220	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr7:152346220delA	ENST00000359321.1	-	3	435	c.350delT	c.(349-351)tgfs	p.L117fs	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	117					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	p.V118fs*5(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCAGTACACCAAAAAAAATCT	0.393								Homologous recombination					7	419	---	---	---	---					
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aafs	p.K107fs	MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274													10	511	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401													8	42	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18729796	18729796	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr8:18729796delT	ENST00000440756.2	-	3	680	c.578delA	c.(577-579)atfs	p.N193fs	PSD3_ENST00000523619.1_Frame_Shift_Del_p.N128fs|PSD3_ENST00000327040.8_Frame_Shift_Del_p.N193fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	193					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCTGGTAAATTTTTTTGGCC	0.438													8	996	---	---	---	---					
SFTPC	6440	broad.mit.edu	37	8	22021060	22021061	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr8:22021060_22021061delGT	ENST00000522109.1	+	4	460_461	c.436_437delGT	c.(436-438)gfs	p.V146fs	SFTPC_ENST00000524255.1_Splice_Site|SFTPC_ENST00000318561.3_Splice_Site|SFTPC_ENST00000521315.1_Splice_Site|SFTPC_ENST00000520605.1_Splice_Site|SFTPC_ENST00000437090.2_Splice_Site			P11686	PSPC_HUMAN	surfactant protein C	146	BRICHOS.				respiratory gaseous exchange	extracellular space		p.M146fs*41(1)		autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CAACTTCCAGGTGTGTGTGTGT	0.545													8	202	---	---	---	---					
TEX15	56154	broad.mit.edu	37	8	30695491	30695491	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr8:30695491delT	ENST00000256246.2	-	3	7234	c.7160delA	c.(7159-7161)agfs	p.K2387fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2387										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTTCAACCTTTTTTGGCGT	0.388													9	1159	---	---	---	---					
TERF1	7013	broad.mit.edu	37	8	73921284	73921286	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr8:73921284_73921286delGAG	ENST00000276602.6	+	1	186_188	c.163_165delGAG	c.(163-165)del	p.E62del	TERF1_ENST00000276603.5_In_Frame_Del_p.E62del	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	62	Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGGGGCCCCCgaggaggaggagg	0.650													11	218	---	---	---	---					
C8orf59	401466	broad.mit.edu	37	8	86129664	86129664	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr8:86129664delT	ENST00000417663.2	-	2	136	c.65delA	c.(64-66)acfs	p.N22fs	C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	22																	AGCCTTAAAGTTTTTTTGGCT	0.343													7	838	---	---	---	---					
LAPTM4B	55353	broad.mit.edu	37	8	98788016	98788017	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr8:98788016_98788017delGT	ENST00000445593.2	+	1	732_733	c.52_53delGT	c.(52-54)cfs	p.V18fs	LAPTM4B_ENST00000521545.2_5'UTR	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	71					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			CCCCCTCCCCGTCCCCGCCGCT	0.713													10	66	---	---	---	---					
PABPC1	26986	broad.mit.edu	37	8	101724994	101724995	+	Frame_Shift_Ins	INS	-	-	A	rs140822921	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr8:101724994_101724995insA	ENST00000318607.5	-	6	1889_1890	c.761_762insT	c.(760-762)agafs	p.R254fs	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	254	CSDE1-binding.|RRM 3.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTGAGCTCCTTTCCGTTCAT	0.371													8	447	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)			16	555	---	---	---	---					
TBC1D31	93594	broad.mit.edu	37	8	124140520	124140521	+	Splice_Site	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TTTTCTTACAGTTTTTTTTTCA	0.322													9	345	---	---	---	---					
COL22A1	169044	broad.mit.edu	37	8	139809072	139809072	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr8:139809072delT	ENST00000303045.6	-	12	2032	c.1586delA	c.(1585-1587)agfs	p.K529fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	529	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCACCCTTTTCCCCTTG	0.463										HNSCC(7;0.00092)			8	1980	---	---	---	---					
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr9:117406_117407insG	ENST00000382500.2	-	1	1010_1011	c.713_714insC	c.(712-714)cccfs	p.P238fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	238	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743													9	496	---	---	---	---					
RLN2	6019	broad.mit.edu	37	9	5304560	5304561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr9:5304560_5304561insA	ENST00000381627.3	-	1	408_409	c.20_21insT	c.(19-21)tcafs	p.S7fs	RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	7					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGCAGGTGGAAAAAAAACAG	0.535													9	497	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													9	120	---	---	---	---					
HABP4	22927	broad.mit.edu	37	9	99250415	99250416	+	Frame_Shift_Ins	INS	-	-	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr9:99250415_99250416insC	ENST00000375249.4	+	7	1119_1120	c.1044_1045insC	c.(1042-1047)aaccgcfs	p.R349fs	HABP4_ENST00000375251.3_Frame_Shift_Ins_p.R244fs|HABP4_ENST00000466976.1_3'UTR	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	349					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				TTTTCCGGAAACCCGCCAATGA	0.530													11	516	---	---	---	---					
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cgg>cg	p.RQ296del	C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	296	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557													10	345	---	---	---	---					
TTF1	7270	broad.mit.edu	37	9	135277388	135277388	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr9:135277388delT	ENST00000334270.2	-	2	860	c.821delA	c.(820-822)agfs	p.K274fs		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	274	Poly-Lys.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTTCTTAGACTTTTTTTTGTG	0.473													11	471	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	17113554	17113554	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr10:17113554delA	ENST00000377833.4	-	19	2561	c.2496delT	c.(2494-2496)ttfs	p.F832fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	832	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACACGTTAGGAAAAAAAGGCG	0.413													7	349	---	---	---	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)gtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													7	588	---	---	---	---					
FRG2B	441581	broad.mit.edu	37	10	135438960	135438960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr10:135438960delC	ENST00000443774.1	-	4	532	c.483delG	c.(481-483)agfs	p.R161fs	FRG2B_ENST00000425520.1_Frame_Shift_Del_p.R160fs			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	160						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGGCCCGAGACCTATGCCGCT	0.557													21	1253	---	---	---	---					
MUC2	4583	broad.mit.edu	37	11	1093684	1093684	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr11:1093684delC	ENST00000441003.2	+	30	5530	c.5503delC	c.(5503-5505)ccfs	p.P1836fs	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Frame_Shift_Del_p.P124fs	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1839						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AAGCACGGGGCCCCCCACCCA	0.617													7	1267	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602546	5602546	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr11:5602546delC	ENST00000345043.2	+	1	440	c.440delC	c.(439-441)tcfs	p.S147fs	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCATCTGCTCCCCCCTGCGA	0.507													7	1093	---	---	---	---					
CKAP5	9793	broad.mit.edu	37	11	46829683	46829683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr11:46829683delT	ENST00000529230.1	-	8	922	c.876delA	c.(874-876)aafs	p.K292fs	CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	292					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTTGCCATTTTTTTGCCT	0.363													8	1280	---	---	---	---					
TRIM51HP	0	broad.mit.edu	37	11	55065032	55065032	+	RNA	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr11:55065032delT	ENST00000526016.1	-	0	393					NR_038174.2																						AAAGACTGCATTTTTTTTTAG	0.398													8	406	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62299856	62299856	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr11:62299856delC	ENST00000378024.4	-	5	2307	c.2033delG	c.(2032-2034)gafs	p.G678fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	678					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTAAGTTTTCCCCCCAGACC	0.478													7	1302	---	---	---	---					
RTN3	10313	broad.mit.edu	37	11	63525788	63525788	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr11:63525788delT	ENST00000354497.4	+	4	634	c.570delT	c.(568-570)gcfs	p.A190fs	RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000377819.5_3'UTR|RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000356000.3_3'UTR|RTN3_ENST00000540798.1_3'UTR	NM_001265591.1	NP_001252520.1	O95197	RTN3_HUMAN	reticulon 3	0					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CATTCCAAGCTTTTTTTTTAA	0.348													8	259	---	---	---	---					
SF3B2	10992	broad.mit.edu	37	11	65836145	65836146	+	Splice_Site	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr11:65836145_65836146insA	ENST00000528302.1	+	21	2620_2621	c.2565_splice	c.e21-1	p.K856_splice	RP11-1167A19.2_ENST00000529036.1_Intron|SF3B2_ENST00000322535.6_Splice_Site_p.K873_splice			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	873					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTATACAGCAAAAAAAACGG	0.515											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	582	---	---	---	---					
KDM2A	22992	broad.mit.edu	37	11	67018079	67018081	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr11:67018079_67018081delGAG	ENST00000529006.2	+	17	3024_3026	c.2578_2580delGAG	c.(2578-2580)del	p.E866del	KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	866					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ggaggaggaagaggaggaggagg	0.655													11	232	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs35342965	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGAGGAACAAGTGGTGCCTAAG	0.416													13	78	---	---	---	---					
NPAT	4863	broad.mit.edu	37	11	108044434	108044434	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr11:108044434delT	ENST00000278612.8	-	13	1382	c.1277delA	c.(1276-1278)agfs	p.K426fs		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	426					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTTAAAGGCCTTTTTCTGTAT	0.383													7	985	---	---	---	---					
CADM1	23705	broad.mit.edu	37	11	115080312	115080314	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr11:115080312_115080314delTGG	ENST00000537058.1	-	8	1078_1080	c.1058_1060delCCA	c.(1057-1062)atc>a	p.TI353del	CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	353				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		atggtaaggatggtggtggtggt	0.429													7	471	---	---	---	---					
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	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	475	---	---	---	---					
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	-	A	rs35817404		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr11:125505377_125505378insA	ENST00000534070.1	+	7	922_923	c.667_668insA	c.(667-669)aaafs	p.K223fs	CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Protein kinase.		E -> V (in dbSNP:rs35817404).		cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361								Other conserved DNA damage response genes					16	1059	---	---	---	---					
NFRKB	4798	broad.mit.edu	37	11	129752496	129752496	+	Frame_Shift_Del	DEL	T	T	-	rs149369172		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr11:129752496delT	ENST00000446488.3	-	9	1035	c.932delA	c.(931-933)agfs	p.K311fs	NFRKB_ENST00000524794.1_Frame_Shift_Del_p.K336fs|NFRKB_ENST00000524746.1_Frame_Shift_Del_p.K311fs|NFRKB_ENST00000304521.5_Frame_Shift_Del_p.K311fs	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	311	Lys-rich.				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTCCTTAACCTTTTTTTTAAG	0.438													7	609	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711546	6711546	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:6711546delT	ENST00000309577.6	-	3	381	c.218delA	c.(217-219)agfs	p.K73fs	CHD4_ENST00000357008.2_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	73					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACTCACCTCCTTTTTTTGGCG	0.468													10	1810	---	---	---	---					
PLCZ1	89869	broad.mit.edu	37	12	18841025	18841025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:18841025delT	ENST00000266505.7	-	13	1852	c.1589delA	c.(1588-1590)atfs	p.N530fs	PLCZ1_ENST00000538330.1_Frame_Shift_Del_p.N312fs|PLCZ1_ENST00000539875.1_Frame_Shift_Del_p.N337fs|PLCZ1_ENST00000435379.1_Frame_Shift_Del_p.N335fs|PLCZ1_ENST00000534932.1_Frame_Shift_Del_p.N11fs|PLCZ1_ENST00000447925.2_Frame_Shift_Del_p.N528fs|PLCZ1_ENST00000541695.1_Frame_Shift_Del_p.N393fs			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	530	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GAGCTCACCATTTTTTTTAAT	0.294													7	551	---	---	---	---					
SLCO1B3	28234	broad.mit.edu	37	12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)ttfs	p.F278fs	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCCATACCATTTTTTTTCTT	0.363													8	729	---	---	---	---					
ITPR2	3709	broad.mit.edu	37	12	26640046	26640046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:26640046delT	ENST00000381340.3	-	40	5925	c.5509delA	c.(5509-5511)ggfs	p.R1837fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1837					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCATCGTCCCTTTTTTTGTTA	0.358													12	733	---	---	---	---					
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:29450110delA	ENST00000182377.4	+	4	790	c.522delA	c.(520-522)ccfs	p.P174fs	FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388													9	874	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:46318575_46318577delGGT	ENST00000465950.1	-	2	4104_4106	c.2895_2897delACC	c.(2893-2898)ccc>cc	p.PP969del	SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_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													8	328	---	---	---	---					
CBX5	23468	broad.mit.edu	37	12	54645832	54645832	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:54645832delT	ENST00000209875.4	-	3	453	c.317delA	c.(316-318)agfs	p.K106fs	CBX5_ENST00000439541.2_Frame_Shift_Del_p.K106fs|CBX5_ENST00000550411.1_Frame_Shift_Del_p.K106fs	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	106					blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TACCTCTCTCTTTTTTTTAGA	0.323													10	1178	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56559113	56559113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:56559113delG	ENST00000394023.3	-	27	3326	c.3221delC	c.(3220-3222)ctfs	p.P1074fs	SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.P1074fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Del_p.P1043fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1043	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATGGGGTCCAGGGGGGGGAAC	0.577													11	797	---	---	---	---					
RP11-74M13.4	0	broad.mit.edu	37	12	57255299	57255300	+	RNA	INS	-	-	A	rs139092727	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:57255299_57255300insA	ENST00000557452.1	+	0	720																											ATGGAAGAAGGAAaaaaaaata	0.426													10	385	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57605740	57605742	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	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													12	1415	---	---	---	---					
MBD6	0	broad.mit.edu	37	12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:57921401delC	ENST00000355673.3	+	8	2550	c.2194delC	c.(2194-2196)ccfs	p.P733fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.P733fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	733	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTCAGGGAGACCCCCCCAACT	0.602													9	2044	---	---	---	---					
TSFM	10102	broad.mit.edu	37	12	58177051	58177052	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:58177051_58177052insG	ENST00000454289.3	+	2	429_430	c.216_217insG	c.(214-219)gggggafs	p.GG72fs	TSFM_ENST00000497617.1_3'UTR|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000540550.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000543727.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000550559.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.GG72fs|RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.G87fs|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.GG72fs	NM_005726.5	NP_005717.3	P43897	EFTS_HUMAN	Ts translation elongation factor, mitochondrial	72					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGACTTGTGGCGGGGACCTCAA	0.569													18	2258	---	---	---	---					
LRIG3	121227	broad.mit.edu	37	12	59268350	59268351	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:59268350_59268351insG	ENST00000320743.3	-	17	2986_2987	c.2700_2701insC	c.(2698-2703)acgccafs	p.P901fs	LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.P841fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	901						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCAATATGGCAGGTCCCTTTGA	0.401			T	ROS1	NSCLC								12	756	---	---	---	---					
XPOT	11260	broad.mit.edu	37	12	64812754	64812755	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:64812754_64812755insT	ENST00000332707.5	+	6	898_899	c.369_370insT	c.(367-372)aattttfs	p.NF123fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	123	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.F126fs*6(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGTGGCCCAAGTTTTTTTTTGA	0.441													9	454	---	---	---	---					
POP5	51367	broad.mit.edu	37	12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:121017154_121017156delCTC	ENST00000341039.2	-	4	323_325	c.307_309delGAG	c.(307-309)del	p.E103del	POP5_ENST00000357500.4_In_Frame_Del_p.E153del|POP5_ENST00000542776.1_5'UTR	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	494	---	---	---	---					
DDX55	57696	broad.mit.edu	37	12	124103201	124103202	+	Translation_Start_Site	DEL	TG	TG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr12:124103201_124103202delTG	ENST00000421670.3	+	0	639_640				DDX55_ENST00000538744.1_Intron|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000238146.4_Intron			Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55								ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GAATGTGGTATGTGTGTGTGTG	0.520											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	239	---	---	---	---					
ZMYM5	9205	broad.mit.edu	37	13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gtt>g	p.DV59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379													9	501	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr13:23914687delT	ENST00000382298.3	-	10	3916	c.3328delA	c.(3328-3330)ttfs	p.I1110fs	SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1110					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383													17	1649	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.F335fs*19(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428													12	1301	---	---	---	---					
RXFP2	122042	broad.mit.edu	37	13	32376429	32376429	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr13:32376429delA	ENST00000298386.2	+	18	2223	c.2152delA	c.(2152-2154)aafs	p.K720fs	RXFP2_ENST00000380314.1_Frame_Shift_Del_p.K696fs	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	720						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTTCAAAATTAAAAAAAAAAG	0.348													46	1078	---	---	---	---					
DCLK1	9201	broad.mit.edu	37	13	36397008	36397008	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr13:36397008delC	ENST00000255448.4	-	11	1623	c.1412delG	c.(1411-1413)gafs	p.G471fs	DCLK1_ENST00000360631.3_Frame_Shift_Del_p.G471fs|DCLK1_ENST00000379893.1_Frame_Shift_Del_p.G164fs	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	471	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AAAAAGGTCTCCCCCCTGAGA	0.517													7	721	---	---	---	---					
KIAA1704	0	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr13:45580365_45580367delGAT	ENST00000361121.2	+	3	285_287	c.250_252delGAT	c.(250-252)del	p.D88del	KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|RP11-321C24.1_ENST00000437748.2_lincRNA			Q8IXQ4	K1704_HUMAN		88	Poly-Asp.									breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		Ggatgatgacgatgatgatgatg	0.335													15	1536	---	---	---	---					
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)tgafs	p.*320fs	DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322													14	946	---	---	---	---					
ABCC4	10257	broad.mit.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr13:95696016delT	ENST00000376887.4	-	29	3769	c.3655delA	c.(3655-3657)tcfs	p.I1219fs	ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1219	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTCTCCCGGATTTTTTTTTGT	0.378													13	616	---	---	---	---					
RP11-597A11.6	0	broad.mit.edu	37	14	20146543	20146544	+	RNA	INS	-	-	GTCCC	rs60511353		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:20146543_20146544insGTCCC	ENST00000555580.1	-	0	225																											CCAACTCAGCAGAACAGTGTCA	0.505													8	128	---	---	---	---					
TRAV24	0	broad.mit.edu	37	14	22573825	22573826	+	RNA	INS	-	-	A	rs33991650	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:22573825_22573826insA	ENST00000390453.1	+	0	55																											GACTCTTTTTTAAAAAAACAGG	0.450													11	87	---	---	---	---					
TRAC	0	broad.mit.edu	37	14	23020942	23020942	+	RNA	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:23020942delT	ENST00000478163.3	+	0	819																											GAGGGGTTTATTTTTTTTTAA	0.468													9	298	---	---	---	---					
IL25	0	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tfs	p.C168fs	IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604													8	900	---	---	---	---					
DPPA3P2	0	broad.mit.edu	37	14	36841115	36841115	+	RNA	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:36841115delT	ENST00000557188.1	+	0	746																											TTCTTGCACCTTTTTTTCTTG	0.358													7	600	---	---	---	---					
RP11-407N17.3	0	broad.mit.edu	37	14	39746242	39746243	+	Frame_Shift_Ins	INS	-	-	T	rs75842899	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:39746242_39746243insT	ENST00000553728.1	+	6	1986_1987	c.1773_1774insT	c.(1771-1776)ctttttfs	p.LF591fs	CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000556148.1_Intron|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs																							TTGCTGTTCTCTTTTTTTTGTG	0.371													10	490	---	---	---	---					
FANCM	57697	broad.mit.edu	37	14	45642288	45642289	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	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				7	445	---	---	---	---					
MIS18BP1	55320	broad.mit.edu	37	14	45716018	45716019	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:45716018_45716019insT	ENST00000310806.4	-	2	929_930	c.471_472insA	c.(469-474)aatgcafs	p.NA157fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	157					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	p.K157fs*24(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						GTATGCTGCAATTTTTTTTTTT	0.356													41	552	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174303	63174303	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:63174303delG	ENST00000322893.7	-	11	3158	c.2890delC	c.(2890-2892)agfs	p.Q964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CATGGTATCTGGGGGGGTACT	0.393													7	1503	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gcg>g	p.EA38del	MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													7	56	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72054755	72054755	+	Frame_Shift_Del	DEL	C	C	-	rs12884638	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:72054755delC	ENST00000555818.1	+	2	514	c.166delC	c.(166-168)ccfs	p.P57fs	SIPA1L1_ENST00000381232.3_Frame_Shift_Del_p.P57fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Del_p.P57fs	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	57					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)		TCCTGTAGGACCCCCCCGAAG	0.532													8	926	---	---	---	---					
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)afs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446													13	269	---	---	---	---					
PTPN21	11099	broad.mit.edu	37	14	88945628	88945630	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:88945628_88945630delTCC	ENST00000556564.1	-	13	2429_2431	c.2145_2147delGGA	c.(2143-2148)gac>ga	p.ED717del	PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	717	Poly-Glu.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGTCCTCGTCCTCCTCCTCCT	0.704													7	402	---	---	---	---					
BTBD7	55727	broad.mit.edu	37	14	93761192	93761193	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr14:93761192_93761193insT	ENST00000334746.5	-	3	480_481	c.173_174insA	c.(172-174)aagfs	p.K58fs	BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000555525.1_Frame_Shift_Ins_p.K58fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	58								p.K58fs*44(2)|p.R59fs*14(2)		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)		CAGAGGTTCTCTTTTTTTTGTC	0.441													11	1126	---	---	---	---					
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	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	949	---	---	---	---					
HERC2P2	0	broad.mit.edu	37	15	23333801	23333802	+	RNA	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr15:23333801_23333802insA	ENST00000560464.1	-	0	908																											ACTTACAGTTCAAAAAAAAAAA	0.441													7	59	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25324325	25324325	+	RNA	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr15:25324325delT	ENST00000549804.2	+	0	1377																											ACAACTGTCATTTTTTTTGAT	0.478													11	442	---	---	---	---					
UBE3A	7337	broad.mit.edu	37	15	25601871	25601871	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr15:25601871delT	ENST00000232165.3	-	8	2582	c.1926delA	c.(1924-1926)aafs	p.K642fs	UBE3A_ENST00000566215.1_Frame_Shift_Del_p.K622fs|UBE3A_ENST00000397954.2_Frame_Shift_Del_p.K645fs|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Frame_Shift_Del_p.K622fs|UBE3A_ENST00000428984.2_Frame_Shift_Del_p.K622fs	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	645					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GAAAAGTTCCTTTTTTCCCCA	0.338													7	1669	---	---	---	---					
FAN1	22909	broad.mit.edu	37	15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aafs	p.K11fs	FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage					7	847	---	---	---	---					
EIF3J	8669	broad.mit.edu	37	15	44843099	44843099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr15:44843099delA	ENST00000261868.5	+	3	311	c.173delA	c.(172-174)gafs	p.E58fs	EIF3J_ENST00000535391.1_Frame_Shift_Del_p.E58fs|EIF3J_ENST00000424492.3_Intron	NM_003758.2	NP_003749.2	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3, subunit J	58	Sufficient for interaction with EIF3B.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.K60fs*36(1)		endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GATGATGATGAAAAAAAAGAG	0.358													7	755	---	---	---	---					
RP11-519G16.3	0	broad.mit.edu	37	15	45754119	45754121	+	RNA	DEL	CAC	CAC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr15:45754119_45754121delCAC	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA																							ccaccaccatcaccaccaccacc	0.571													8	22	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64967246	64967247	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr15:64967246_64967247insA	ENST00000326648.3	+	4	2321_2322	c.2193_2194insA	c.(2191-2196)gaaaaafs	p.EK731fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	731	Poly-Lys.					nucleus	zinc ion binding	p.K734fs*12(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAAGAAAGACAAAAAAAAGAA	0.490													10	1456	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93545433	93545434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr15:93545433_93545434insA	ENST00000394196.4	+	33	5232_5233	c.4164_4165insA	c.(4162-4167)ataaaafs	p.IK1388fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1388					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAGTCCAATgaaaaaaaaaca	0.337													26	822	---	---	---	---					
RAB40C	57799	broad.mit.edu	37	16	677579	677580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr16:677579_677580insC	ENST00000535977.1	+	7	1025_1026	c.803_804insC	c.(802-804)accfs	p.T268fs	RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000248139.3_Frame_Shift_Ins_p.T268fs	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	268					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.Q271fs*7(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCACCCCAGAGCCCCCCCCAGA	0.678													7	538	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													8	1786	---	---	---	---					
C16orf71	146562	broad.mit.edu	37	16	4796953	4796955	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr16:4796953_4796955delGAG	ENST00000299320.5	+	8	1685_1687	c.1207_1209delGAG	c.(1207-1209)del	p.E409del	C16orf71_ENST00000590191.1_In_Frame_Del_p.E426del|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	409								p.E403delE(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CTCTGACAGTGAGGAGGAGGAGG	0.611													7	73	---	---	---	---					
KIAA0430	9665	broad.mit.edu	37	16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggc>gg	p.GG120del	KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	119	Poly-Gly.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532													11	993	---	---	---	---					
ATXN2L	11273	broad.mit.edu	37	16	28846491	28846491	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr16:28846491delC	ENST00000336783.4	+	19	2713	c.2546delC	c.(2545-2547)acfs	p.T849fs	ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.T855fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.T849fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.T849fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	849						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAGCAGCCTACCCCCCAAGCC	0.622													7	1322	---	---	---	---					
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr16:29998498_29998500delCTG	ENST00000308893.4	+	16	3948_3950	c.2905_2907delCTG	c.(2905-2907)del	p.L974del	TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	974	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCTGCCCCTCCTGCTGCTGCTGC	0.709													7	648	---	---	---	---					
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	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													10	2071	---	---	---	---					
SLC5A2	6524	broad.mit.edu	37	16	31498693	31498693	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr16:31498693delG	ENST00000330498.3	+	6	646	c.627delG	c.(625-627)ctfs	p.L209fs	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	209					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TCGTCATTCTGGGGGGCGCCT	0.677													7	1791	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)del	p.E708del		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571													9	451	---	---	---	---					
KCTD19	146212	broad.mit.edu	37	16	67327780	67327781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr16:67327780_67327781insG	ENST00000304372.5	-	12	1939_1940	c.1884_1885insC	c.(1882-1887)ccccacfs	p.H629fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	629						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATGGGAGTGGCGGGAGGGTCTT	0.540													15	1657	---	---	---	---					
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr16:69726420_69726422delCAG	ENST00000349945.1	+	14	3962_3964	c.2410_2412delCAG	c.(2410-2412)del	p.Q812del	NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473													13	429	---	---	---	---					
ADAMTS18	170692	broad.mit.edu	37	16	77334227	77334228	+	Frame_Shift_Ins	INS	-	-	G	rs148849944	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr16:77334227_77334228insG	ENST00000282849.5	-	17	3024_3025	c.2606_2607insC	c.(2605-2607)cgcfs	p.R869fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	869	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTTTTGTGGCTGGTGGAGTTCC	0.460													8	401	---	---	---	---					
RP11-863P13.2	0	broad.mit.edu	37	16	88226611	88226611	+	RNA	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr16:88226611delG	ENST00000568587.1	-	0	91																											tggtggtgatggtggtgatgg	0.522													8	41	---	---	---	---					
SPG7	6687	broad.mit.edu	37	16	89613072	89613073	+	Frame_Shift_Ins	INS	-	-	G	rs111475461	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr16:89613072_89613073insG	ENST00000268704.2	+	11	1471_1472	c.1456_1457insG	c.(1456-1458)ggafs	p.G486fs		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	486			R -> Q.		cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCAGGAGAGGCGGGAGATTTTT	0.594													13	1000	---	---	---	---					
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	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	756	---	---	---	---					
ALOX12	239	broad.mit.edu	37	17	6904974	6904974	+	Frame_Shift_Del	DEL	C	C	-	rs138651024	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:6904974delC	ENST00000251535.6	+	8	1058	c.1005delC	c.(1003-1005)gafs	p.D335fs	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399540.2_3'UTR|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	335	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						TGCCCTCAGACCCCCCACTTG	0.517													7	2011	---	---	---	---					
BCL6B	255877	broad.mit.edu	37	17	6927858	6927858	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:6927858delC	ENST00000293805.5	+	4	632	c.540delC	c.(538-540)ggfs	p.G180fs	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	180	Pro-rich.					nucleus	zinc ion binding	p.S183fs*6(1)		skin(1)	1						GCAGTCAAGGCCCCCCCAGTC	0.617													8	1355	---	---	---	---					
WDR16	146845	broad.mit.edu	37	17	9503387	9503389	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:9503387_9503389delGAT	ENST00000352665.5	+	6	709_711	c.640_642delGAT	c.(640-642)del	p.D217del	WDR16_ENST00000396219.3_In_Frame_Del_p.D149del|WDR16_ENST00000299764.5_In_Frame_Del_p.D227del	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	217						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TCTTCAGGTGGATGATGATGATA	0.502													7	795	---	---	---	---					
MYH2	4620	broad.mit.edu	37	17	10434975	10434975	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:10434975delT	ENST00000245503.5	-	22	3056	c.2672delA	c.(2671-2673)atfs	p.N891fs	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Frame_Shift_Del_p.N891fs|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	891					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGCAAGTCATTTTTTTCTTT	0.433													7	686	---	---	---	---					
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)del	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													8	899	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													8	51	---	---	---	---					
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:27001303_27001305delGAG	ENST00000314616.6	+	3	395_397	c.112_114delGAG	c.(112-114)del	p.E43del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	43	Asp/Glu-rich.				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)					TCTTCCAGATGAGGAGGAGGAGG	0.453													7	358	---	---	---	---					
SLFN12	55106	broad.mit.edu	37	17	33749493	33749493	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:33749493delA	ENST00000394562.1	-	4	1078	c.555delT	c.(553-555)ttfs	p.F185fs	SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs			Q8IYM2	SLN12_HUMAN	schlafen family member 12	185							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGTTCTATCAAAAAAAACCC	0.368													10	587	---	---	---	---					
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaa>ga	p.EE840del	GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616													11	470	---	---	---	---					
RP11-51L5.5	0	broad.mit.edu	37	17	60366593	60366594	+	RNA	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:60366593_60366594insA	ENST00000602493.1	-	0	430																											GTTGAGAGAAGAAAAAAAAAAG	0.272													11	110	---	---	---	---					
DDX5	1655	broad.mit.edu	37	17	62496298	62496298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr17:62496298delT	ENST00000225792.5	-	13	1989	c.1588delA	c.(1588-1590)ctfs	p.T530fs	DDX5_ENST00000450599.2_Frame_Shift_Del_p.T451fs|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000578804.1_Frame_Shift_Del_p.T530fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	530					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCATTCTGAGTTTTTGCCCCA	0.413			T	ETV4	prostate								8	1518	---	---	---	---					
LAMA1	284217	broad.mit.edu	37	18	7038885	7038885	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr18:7038885delT	ENST00000389658.3	-	11	1580	c.1487delA	c.(1486-1488)acfs	p.N496fs		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	496	Laminin EGF-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCCCGGGGGTTTTTTTCCTT	0.532													7	1096	---	---	---	---					
FAM210A	125228	broad.mit.edu	37	18	13681751	13681751	+	Frame_Shift_Del	DEL	T	T	-	rs143162930		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr18:13681751delT	ENST00000322247.3	-	3	713	c.326delA	c.(325-327)agfs	p.K109fs	FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN	family with sequence similarity 210, member A	109						integral to membrane		p.K109fs*29(1)									AGGCTCTTCCTTTTTTTCCGG	0.433													10	994	---	---	---	---					
ANKRD20A5P	0	broad.mit.edu	37	18	14184163	14184164	+	RNA	INS	-	-	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr18:14184163_14184164insT	ENST00000581935.1	+	0	852_853																				lung(3)	3						GGTAAGGGTCAATTTTTTATAT	0.282													8	335	---	---	---	---					
RBBP8	5932	broad.mit.edu	37	18	20572852	20572853	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr18:20572852_20572853insA	ENST00000399722.2	+	11	1413_1414	c.1062_1063insA	c.(1060-1065)ggaaaafs	p.GK354fs	RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.GK354fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	354					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	p.K357fs*3(2)|p.K355E(2)|p.G354G(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TACAGCCTGGGAAAAAAAAACA	0.361								Homologous recombination					24	1238	---	---	---	---					
ZNF236	7776	broad.mit.edu	37	18	74593429	74593430	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr18:74593429_74593430insA	ENST00000253159.8	+	9	1570_1571	c.1372_1373insA	c.(1372-1374)aaafs	p.K458fs	ZNF236_ENST00000320610.9_Frame_Shift_Ins_p.K460fs	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	458					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGATAAAAAAGAAAAAAAAATG	0.381													13	386	---	---	---	---					
ZNF44	51710	broad.mit.edu	37	19	12384448	12384448	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr19:12384448delA	ENST00000356109.5	-	5	884	c.766delT	c.(766-768)ggfs	p.W256fs	ZNF44_ENST00000355684.5_Frame_Shift_Del_p.W208fs	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AAACTGGGCCAAAAAAAGGCT	0.398													8	625	---	---	---	---					
ZNF570	148268	broad.mit.edu	37	19	37976034	37976034	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr19:37976034delA	ENST00000330173.1	+	5	2039	c.1510delA	c.(1510-1512)aafs	p.K505fs	ZNF570_ENST00000586475.1_Frame_Shift_Del_p.K561fs|ZNF570_ENST00000388801.3_Frame_Shift_Del_p.K302fs	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAGGAATGCAAAAAAACCTT	0.448													7	904	---	---	---	---					
HNRNPL	3191	broad.mit.edu	37	19	39330958	39330959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr19:39330958_39330959insG	ENST00000221419.5	-	8	1376_1377	c.1010_1011insC	c.(1009-1011)cccfs	p.P337fs	HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P204fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	337	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CGTAGTGAGGTGGGGGGGGCCC	0.668													8	189	---	---	---	---					
AXL	558	broad.mit.edu	37	19	41743933	41743933	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr19:41743933delC	ENST00000301178.4	+	7	1058	c.868delC	c.(868-870)ccfs	p.P291fs	AXL_ENST00000359092.3_Frame_Shift_Del_p.P291fs|AXL_ENST00000593513.1_Frame_Shift_Del_p.P23fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	291	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AGCATCCGTGCCCCCCCATCA	0.647													11	1219	---	---	---	---					
EXOSC5	56915	broad.mit.edu	37	19	41903203	41903203	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr19:41903203delT	ENST00000221233.4	-	1	181	c.31delA	c.(31-33)tcfs	p.I11fs	BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Frame_Shift_Del_p.I11fs	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	11					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TCAGCACGGATTTTGGCGTCA	0.647													7	1407	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)ggc>g	p.EG705del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586													20	1416	---	---	---	---					
DHX34	9704	broad.mit.edu	37	19	47883158	47883160	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	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													7	601	---	---	---	---					
SCAF1	58506	broad.mit.edu	37	19	50156709	50156711	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	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													7	89	---	---	---	---					
SIGLEC16	400709	broad.mit.edu	37	19	50474857	50474861	+	RNA	DEL	GACGC	GACGC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr19:50474857_50474861delGACGC	ENST00000602139.1	+	0	998									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						CAGTCTCCAGGACGCTTCCCTTTGC	0.566													8	448	---	---	---	---					
SIGLEC7	27036	broad.mit.edu	37	19	51645628	51645630	+	Translation_Start_Site	DEL	TGC	TGC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr19:51645628_51645630delTGC	ENST00000317643.6	+	0	71_73				SIGLEC7_ENST00000305628.7_Start_Codon_Del|SIGLEC7_ENST00000600577.1_Start_Codon_Del	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7						cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ACCCCAGATAtgctgctgctgct	0.596													7	294	---	---	---	---					
ZNF211	0	broad.mit.edu	37	19	58153483	58153484	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr19:58153483_58153484insA	ENST00000544273.1	+	5	1992_1993	c.1665_1666insA	c.(1663-1668)ggaatcfs	p.I556fs	ZNF211_ENST00000541801.1_Frame_Shift_Ins_p.I535fs|ZNF211_ENST00000420680.1_Frame_Shift_Ins_p.I548fs|ZNF211_ENST00000391703.3_Frame_Shift_Ins_p.I483fs|ZNF211_ENST00000347302.3_Frame_Shift_Ins_p.I544fs|ZNF211_ENST00000299871.5_Frame_Shift_Ins_p.I609fs|ZNF211_ENST00000254182.7_Frame_Shift_Ins_p.I535fs|ZNF211_ENST00000240731.4_Frame_Shift_Ins_p.I557fs			Q13398	ZN211_HUMAN	zinc finger protein 211	544						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K557E(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCAATGTGGGAAATCCTTTGG	0.431													735	716	---	---	---	---					
CHGB	1114	broad.mit.edu	37	20	5903283	5903285	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr20:5903283_5903285delGAG	ENST00000378961.4	+	4	697_699	c.493_495delGAG	c.(493-495)del	p.E169del		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	169	Poly-Glu.					extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAGAGGATGAGGAGGAGGAGG	0.532													10	433	---	---	---	---					
CD93	22918	broad.mit.edu	37	20	23065523	23065523	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr20:23065523delC	ENST00000246006.4	-	1	1454	c.1307delG	c.(1306-1308)gcfs	p.G436fs		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	436	EGF-like 5; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAGAGGGGGCCCCCCGGGCC	0.637													8	897	---	---	---	---					
FRG1B	0	broad.mit.edu	37	20	29628229	29628230	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr20:29628229_29628230insA	ENST00000278882.3	+	6	611_612	c.231_232insA	c.(229-234)ggaaatfs	p.N78fs	FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.N83fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.N78fs																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCACTTAGGGGAAAATGGCTTT	0.351													83	1276	---	---	---	---					
HNF4A	3172	broad.mit.edu	37	20	43052773	43052775	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr20:43052773_43052775delGCT	ENST00000316099.3	+	8	1097_1099	c.1008_1010delGCT	c.(1006-1011)gag>ga	p.EL336del	HNF4A_ENST00000443598.2_In_Frame_Del_p.EL336del|HNF4A_ENST00000457232.1_In_Frame_Del_p.EL314del|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	205	---	---	---	---					
TPTE	7179	broad.mit.edu	37	21	10944697	10944697	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr21:10944697delA	ENST00000298232.7	-	10	850	c.483delT	c.(481-483)ttfs	p.F161fs	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs|TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	179					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTAATGTCAAAAAAAATGT	0.299													16	684	---	---	---	---					
ANKRD20A11P	0	broad.mit.edu	37	21	15347435	15347436	+	RNA	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr21:15347435_15347436insA	ENST00000344693.5	-	0	736					NR_027270.1																						CTTCCAAATATAAAAAATTGAC	0.287													32	361	---	---	---	---					
HIRA	7290	broad.mit.edu	37	22	19349302	19349304	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr22:19349302_19349304delTTC	ENST00000263208.5	-	16	2182_2184	c.1926_1928delGAA	c.(1924-1929)aaa>aa	p.KK642del	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_In_Frame_Del_p.KK598del|HIRA_ENST00000546308.1_In_Frame_Del_p.KK598del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	642	Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Poly-Lys.				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)					AGGCCGCCCTTTCTTCTTCTTCT	0.537													8	1453	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)del	p.Q218del	MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	222	---	---	---	---					
C22orf43	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr22:23959767_23959769delCAT	ENST00000317749.5	-	7	809_811	c.512_514delATG	c.(511-516)gcc>g	p.DA171del		NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	171	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.433													12	449	---	---	---	---					
CABIN1	23523	broad.mit.edu	37	22	24515602	24515602	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr22:24515602delC	ENST00000398319.2	+	28	4954	c.4569delC	c.(4567-4569)ttfs	p.F1523fs	CABIN1_ENST00000263119.5_Frame_Shift_Del_p.F1523fs|CABIN1_ENST00000405822.2_Frame_Shift_Del_p.F1444fs	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1523					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGAGCCGCTTCCCCCAGCACT	0.642													8	1655	---	---	---	---					
MTMR3	8897	broad.mit.edu	37	22	30408494	30408494	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr22:30408494delC	ENST00000333027.3	+	13	1587	c.1259delC	c.(1258-1260)acfs	p.T420fs	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Frame_Shift_Del_p.T284fs|MTMR3_ENST00000351488.3_Frame_Shift_Del_p.T420fs|MTMR3_ENST00000406629.1_Frame_Shift_Del_p.T420fs|MTMR3_ENST00000401950.2_Frame_Shift_Del_p.T420fs	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	420	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGGGACCGCACCCCCCAGATT	0.547													8	2860	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38120029	38120031	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr22:38120029_38120031delCCT	ENST00000406386.3	+	7	1721_1723	c.1466_1468delCCT	c.(1465-1470)gcc>g	p.AS489del	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	489					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601													21	1246	---	---	---	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)atfs	p.N299fs	ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363													10	1080	---	---	---	---					
CRELD2	79174	broad.mit.edu	37	22	50315936	50315973	+	Splice_Site	DEL	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	-	rs71805922	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	ENST00000404488.3	+	6	727_756	c.592_splice	c.e6-1	p.198_splice	CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000328268.4_Intron|CRELD2_ENST00000403427.3_Intron	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	197						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCTTGCTGTC	0.622													7	101	---	---	---	---					
MSL3	10943	broad.mit.edu	37	X	11783683	11783683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:11783683delA	ENST00000337339.2	+	9	1033	c.1006delA	c.(1006-1008)aafs	p.K336fs	MSL3_ENST00000380693.3_Frame_Shift_Del_p.K170fs|MSL3_ENST00000361672.2_Frame_Shift_Del_p.K187fs|MSL3_ENST00000398527.2_Frame_Shift_Del_p.K324fs|MSL3_ENST00000312196.4_Frame_Shift_Del_p.K336fs	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	336					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						AGCCACCCCCAAAAGGCGCAA	0.592													7	1532	---	---	---	---					
OFD1	8481	broad.mit.edu	37	X	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:13764946delA	ENST00000380567.1	+	9	1154	c.282delA	c.(280-282)gcfs	p.A94fs	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234	LisH.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAATGGAAGCAAAAAAAAAGT	0.299													13	496	---	---	---	---					
DDX3X	1654	broad.mit.edu	37	X	41205517	41205517	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:41205517delA	ENST00000399959.2	+	13	2206	c.1351delA	c.(1351-1353)aafs	p.K452fs	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Frame_Shift_Del_p.K436fs|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	452	Helicase C-terminal.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TGTGGAGACCAAAAAGGGTGC	0.433										HNSCC(61;0.18)			7	1123	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-	rs3747282	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:50350672_50350674delTCT	ENST00000376020.2	-	6	3493_3495	c.3468_3470delAGA	c.(3466-3471)gag>ga	p.EE1156del	SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1040del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1156del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557													7	159	---	---	---	---					
EDA	1896	broad.mit.edu	37	X	68836236	68836237	+	Frame_Shift_Ins	INS	-	-	G	rs41539891		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:68836236_68836237insG	ENST00000374552.4	+	1	326_327	c.84_85insG	c.(82-87)gggggcfs	p.GG28fs	EDA_ENST00000527388.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000525810.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000524573.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000374553.2_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000338901.3_Frame_Shift_Ins_p.GG28fs	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	28					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCGGGTGTGGCGGGGCCCCTGC	0.708													11	389	---	---	---	---					
TAF1	6872	broad.mit.edu	37	X	70602999	70603000	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:70602999_70603000insA	ENST00000449580.1	+	12	1980_1981	c.1929_1930insA	c.(1927-1932)ataaaafs	p.IK643fs	TAF1_ENST00000373790.4_Frame_Shift_Ins_p.IK643fs|TAF1_ENST00000276072.3_Frame_Shift_Ins_p.IK664fs|TAF1_ENST00000423759.1_Frame_Shift_Ins_p.IK664fs			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	643					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TAAAGCACATCAAAAAAAAGGC	0.406													9	434	---	---	---	---					
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gac>ga	p.ED221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													30	414	---	---	---	---					
TSIX	0	broad.mit.edu	37	X	73046080	73046080	+	RNA	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:73046080delT	ENST00000604411.1	+	0	34041				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AGCCTGGCACTTTTTTTTCCC	0.423													9	808	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76907782	76907784	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:76907782_76907784delTCC	ENST00000373344.5	-	15	4591_4593	c.4377_4379delGGA	c.(4375-4380)gaa>ga	p.EE1463del	ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1463	Poly-Glu.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ctcctcctcttcctcctcctcct	0.389			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						13	862	---	---	---	---					
ZBTB33	10009	broad.mit.edu	37	X	119388276	119388278	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:119388276_119388278delGAT	ENST00000326624.2	+	2	1234_1236	c.1006_1008delGAT	c.(1006-1008)del	p.D340del	ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	340					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGAAATAATAGATGATGATGATG	0.433													7	1101	---	---	---	---					
HS6ST2	90161	broad.mit.edu	37	X	131762582	131762582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:131762582delA	ENST00000370836.2	-	4	1902	c.1487delT	c.(1486-1488)tgfs	p.L496fs	HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs|HS6ST2_ENST00000370837.1_Frame_Shift_Del_p.L350fs|HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs|HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	496						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATACCTCTGCAAAAAAAGGTC	0.453													10	1755	---	---	---	---					
DDX26B	203522	broad.mit.edu	37	X	134680317	134680317	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:134680317delT	ENST00000370752.4	+	4	686	c.352delT	c.(352-354)ttfs	p.F119fs	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	119	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAATCCATTTTTTTTAGA	0.274													7	315	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	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													11	1976	---	---	---	---					
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:135585048_135585050delAAG	ENST00000535601.1	+	6	1104_1106	c.682_684delAAG	c.(682-684)del	p.K232del	HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335													9	929	---	---	---	---					
PNMA3	29944	broad.mit.edu	37	X	152225996	152225997	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:152225996_152225997insG	ENST00000447306.1	+	2	920_921	c.584_585insG	c.(583-585)cgtfs	p.R195fs	PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.R195fs|PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.R195fs	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	195					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cagatgtggcaggtgcccgagg	0.574													7	691	---	---	---	---					
PNMA3	29944	broad.mit.edu	37	X	152226003	152226004	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:152226003_152226004insG	ENST00000447306.1	+	2	927_928	c.591_592insG	c.(589-594)ccagggfs	p.G198fs	PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.G198fs|PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.G198fs	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	198					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ggcaggtgcccgagggggaaaa	0.574													7	659	---	---	---	---					
UBL4A	8266	broad.mit.edu	37	X	153714159	153714160	+	Frame_Shift_Ins	INS	-	-	G	rs150392222		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:153714159_153714160insG	ENST00000369660.4	-	3	398_399	c.313_314insC	c.(313-315)ccafs	p.P105fs	UBL4A_ENST00000369653.4_Frame_Shift_Ins_p.P105fs|UBL4A_ENST00000477777.1_5'UTR	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	105					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTGAAGTGGCGGGCCAAGACT	0.629													19	1502	---	---	---	---					
IL9R	3581	broad.mit.edu	37	X	155239799	155239801	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrX:155239799_155239801delAGC	ENST00000424344.3	+	10	1595_1597	c.1228_1230delAGC	c.(1228-1230)del	p.S417del	IL9R_ENST00000244174.5_In_Frame_Del_p.S438del|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000540897.1_3'UTR			Q01113	IL9R_HUMAN	interleukin 9 receptor	438					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGgcagcaggagcagcagcagca	0.621													8	261	---	---	---	---					
RNA5-8SP6	0	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	f330d800-8680-4db1-838b-b0130e2ce6c2	g.chrY:10037863delC	ENST00000515896.1	+	0	100																											ATCGACACTTCGAACGCACTT	0.552													13	159	---	---	---	---					
