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
CENPF	1063	broad.mit.edu	37	1	214814730	214814730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:214814730C>T	ENST00000366955.3	+	12	3217	c.3049C>T	c.(3049-3051)Cag>Tag	p.Q1017*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1017					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTTATCTGATCAGTACAAGCA	0.333000													16	79					0	0	0.006122	0	0
MAP4	4134	broad.mit.edu	37	3	47958161	47958161	+	Missense_Mutation	SNP	T	T	C	rs142423472	byFrequency	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:47958161T>C	ENST00000426837.2	-	8	1294	c.1207A>G	c.(1207-1209)Ata>Gta	p.I403V	MAP4_ENST00000395734.3_Missense_Mutation_p.I386V|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Missense_Mutation_p.I386V			P27816	MAP4_HUMAN	microtubule-associated protein 4	386	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TCCATTTTTATAGGAGATGCC	0.453000													38	162					0	0	0.001951	0	0
SCIN	85477	broad.mit.edu	37	7	12680101	12680101	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:12680101C>G	ENST00000297029.5	+	11	1641	c.1540C>G	c.(1540-1542)Caa>Gaa	p.Q514E	SCIN_ENST00000445618.2_Missense_Mutation_p.Q267E|SCIN_ENST00000519209.1_Missense_Mutation_p.Q267E	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	514	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACGCCTCTTTCAAGTCCGGAG	0.458000													3	21					0	0	0.000248	0	0
SATB1	6304	broad.mit.edu	37	3	18427954	18427954	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:18427954C>T	ENST00000338745.6	-	8	3090	c.1356G>A	c.(1354-1356)ttG>ttA	p.L452L	SATB1_ENST00000454909.2_Silent_p.L452L|SATB1_ENST00000417717.2_Silent_p.L452L|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	452					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	p.L452F(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AGGCAGCATTCAAGCTCCTTT	0.547000													8	175					0	0	0.001368	0	0
OR11L1	391189	broad.mit.edu	37	1	248005058	248005058	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:248005058G>A	ENST00000355784.2	-	1	196	c.141C>T	c.(139-141)acC>acT	p.T47T		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCACCACGGTGATGATGA	0.522000													10	27					0	0	0.001368	0	0
PLAT	5327	broad.mit.edu	37	8	42045071	42045071	+	Silent	SNP	G	G	A	rs114679748	by1000genomes	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr8:42045071G>A	ENST00000220809.4	-	6	640	c.384C>T	c.(382-384)taC>taT	p.Y128Y	PLAT_ENST00000270189.6_Silent_p.Y128Y|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Silent_p.Y128Y|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000352041.3_Silent_p.Y82Y	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	128	Kringle 1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCTGGTCCTCGTAGCACGTGG	0.632000													13	42					0	0	0.004990	0	0
CTSW	1521	broad.mit.edu	37	11	65650570	65650570	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:65650570C>T	ENST00000528419.1	+	8	780	c.776C>T	c.(775-777)cCc>cTc	p.P259L	CTSW_ENST00000307886.3_Missense_Mutation_p.P259L			P56202	CATW_HUMAN	cathepsin W	259					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		ACTTATGGCCCCATCACCGTG	0.607000													60	177					0	0	0.003610	0	0
LHFPL4	375323	broad.mit.edu	37	3	9547837	9547837	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:9547837C>T	ENST00000287585.6	-	3	742	c.457G>A	c.(457-459)Gag>Aag	p.E153K		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	153						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CGGATGGTCTCGGCATCCCAG	0.612000													71	101					0	0	0.003610	0	0
RGPD3	653489	broad.mit.edu	37	2	107040980	107040980	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:107040980G>T	ENST00000409886.3	-	20	3530	c.3443C>A	c.(3442-3444)gCa>gAa	p.A1148E	RGPD3_ENST00000304514.7_Missense_Mutation_p.A1148E	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1148	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AAATTTTGCTGCCAATCGCTC	0.453000													29	170					1.06801e-11	1.54376e-11	0.001786	1	0
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	by1000genomes	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:32031962A>G	ENST00000360311.4	+	2	1940	c.1391A>G	c.(1390-1392)cAt>cGt	p.H464R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCATCACAATTCA	0.418000													7	138					0	0	0.001984	0	0
PRDM7	11105	broad.mit.edu	37	16	90127012	90127012	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:90127012C>A	ENST00000449207.2	-	9	989	c.970G>T	c.(970-972)Gat>Tat	p.D324Y	PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	324	SET.					chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCTTCATCATCCCGGGCACAG	0.542000													8	92					4.68919e-08	6.54019e-08	0.000673	1	0
PIK3C3	5289	broad.mit.edu	37	18	39607448	39607448	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr18:39607448G>A	ENST00000262039.4	+	14	1612	c.1526G>A	c.(1525-1527)aGa>aAa	p.R509K	PIK3C3_ENST00000398870.3_Missense_Mutation_p.R446K|PIK3C3_ENST00000593098.1_5'UTR	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	509					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						ACTCAGCAGAGAGATCCAAAG	0.383000										TSP Lung(28;0.18)			6	71					0	0	0.001984	0	0
DPH1	1801	broad.mit.edu	37	17	1939321	1939321	+	Silent	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr17:1939321G>T	ENST00000263083.6	+	4	396	c.351G>T	c.(349-351)gtG>gtT	p.V117V	DPH1_ENST00000570477.1_Silent_p.V37V|DPH1_ENST00000576891.2_3'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	117					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CTTGCTGTGTGGATGACTTCA	0.652000													13	79					0.00316338	0.00408925	0.003163	1	0
CYTL1	54360	broad.mit.edu	37	4	5016903	5016903	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:5016903G>A	ENST00000307746.4	-	4	412	c.386C>T	c.(385-387)aCg>aTg	p.T129M		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	129					signal transduction	extracellular space|soluble fraction	receptor binding	p.T129M(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TGGCAGGACCGTAGTCACTGG	0.483000													18	49					0	0	0.003954	0	0
TRIL	9865	broad.mit.edu	37	7	28997465	28997465	+	RNA	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:28997465G>A	ENST00000322982.3	-	0	469				AC005013.5_ENST00000436594.1_lincRNA			Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										AGTTGCCGCCGAGGCTGTAGG	0.637000													5	120					0	0	0.001168	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736410	12736410	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chrX:12736410C>T	ENST00000380682.1	+	16	3971	c.3465C>T	c.(3463-3465)acC>acT	p.T1155T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1155					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CTGACGTGACCTGTGCATCTT	0.562000													60	52					0	0	0.003610	0	0
ATM	472	broad.mit.edu	37	11	108188181	108188181	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:108188181G>A	ENST00000278616.4	+	43	6665	c.6280G>A	c.(6280-6282)Gaa>Aaa	p.E2094K	ATM_ENST00000452508.2_Missense_Mutation_p.E2094K|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2094	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTGGTGTCCTGAACTAGAAGA	0.378000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			35	124					0	0	0.006999	0	0
UTP20	27340	broad.mit.edu	37	12	101679598	101679598	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr12:101679598G>T	ENST00000261637.4	+	4	439	c.265G>T	c.(265-267)Gtt>Ttt	p.V89F		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	89					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAACGAGATAGTTCAGAGTTT	0.358000													30	80					3.80469e-20	5.76139e-20	0.001786	1	0
AFF3	3899	broad.mit.edu	37	2	100209852	100209852	+	Silent	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:100209852T>C	ENST00000409236.2	-	13	2383	c.2271A>G	c.(2269-2271)ctA>ctG	p.L757L	AFF3_ENST00000409579.1_Silent_p.L782L|AFF3_ENST00000356421.2_Silent_p.L782L|AFF3_ENST00000317233.4_Silent_p.L757L			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CACTGTCCTTTAGAGGGGAGA	0.577000													14	46					0	0	0.004007	0	0
OR2B11	127623	broad.mit.edu	37	1	247614709	247614709	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:247614709C>T	ENST00000318749.6	-	1	599	c.576G>A	c.(574-576)tcG>tcA	p.S192S		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTCAGCACACGACAGCTTGA	0.562000													7	32					0	0	0.001984	0	0
HMCN1	83872	broad.mit.edu	37	1	185972852	185972852	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:185972852C>G	ENST00000271588.4	+	29	4580	c.4351C>G	c.(4351-4353)Cca>Gca	p.P1451A	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1451A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1451					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTTCAAGTTCCACCCACCAT	0.433000													7	119					0	0	0.003080	0	0
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:53116804G>A	ENST00000597597.1	-	2	3267	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I			P51522	ZNF83_HUMAN	zinc finger protein 83	338						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I338I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413000													6	190					0	0	0.001984	0	0
HSPA5	3309	broad.mit.edu	37	9	127999293	127999293	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr9:127999293C>G	ENST00000324460.6	-	8	1746	c.1543G>C	c.(1543-1545)Gac>Cac	p.D515H		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	515					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	GTACCCTTGTCTTCAGCTGTC	0.438000										Prostate(1;0.17)			37	145					0	0	0.003610	0	0
GOLGA5	9950	broad.mit.edu	37	14	93299497	93299497	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:93299497C>A	ENST00000163416.2	+	10	2006	c.1750C>A	c.(1750-1752)Cag>Aag	p.Q584K	GOLGA5_ENST00000355976.2_Missense_Mutation_p.Q584K	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	584				QS -> PV (in Ref. 8; CAB36967).	Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CAATAGCAGTCAGTCTGAGTT	0.378000			T	RET	papillary thyroid								26	79					2.48696e-23	3.80217e-23	0.003271	1	0
METAP1D	254042	broad.mit.edu	37	2	172928446	172928446	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:172928446A>G	ENST00000315796.4	+	3	593	c.206A>G	c.(205-207)aAg>aGg	p.K69R	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	69					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						AAGCACATAAAGAAGCCAGAC	0.458000													4	19					0	0	0.001168	0	0
LCN15	389812	broad.mit.edu	37	9	139656658	139656658	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr9:139656658C>T	ENST00000316144.5	-	5	526	c.502G>A	c.(502-504)Gtc>Atc	p.V168I	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	168					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|lung(1)	2						GGCAGCATGACCATCATGTCC	0.657000													3	8					0	0	0.003080	0	0
PLCH1	23007	broad.mit.edu	37	3	155206449	155206449	+	Splice_Site	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:155206449C>A	ENST00000460012.1	-	20	2806	c.2449G>T	c.(2449-2451)Ggc>Tgc	p.G817C	PLCH1_ENST00000447496.2_Splice_Site_p.G835C|PLCH1_ENST00000334686.6_Splice_Site_p.G817C|PLCH1_ENST00000494598.1_Splice_Site_p.G835C|PLCH1_ENST00000414191.1_Splice_Site_p.G817C|PLCH1_ENST00000340059.7_Splice_Site_p.G835C			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	835	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCATACCTACCAGGCACTAAG	0.418000													15	31					2.35188e-11	3.33883e-11	0.006122	1	0
FSHB	2488	broad.mit.edu	37	11	30255327	30255327	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:30255327T>C	ENST00000417547.1	+	3	409	c.370T>C	c.(370-372)Ttt>Ctt	p.F124L	FSHB_ENST00000254122.3_Missense_Mutation_p.F124L|FSHB_ENST00000533718.1_Missense_Mutation_p.F124L	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	124					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	CTACTGCTCCTTTGGTGAAAT	0.493000													3	63					0	0	0.000248	0	0
ADK	132	broad.mit.edu	37	10	76349059	76349059	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:76349059G>C	ENST00000372734.3	+	8	882	c.695G>C	c.(694-696)aGa>aCa	p.R232T	ADK_ENST00000541550.1_Missense_Mutation_p.R214T|ADK_ENST00000539909.1_Missense_Mutation_p.R192T|ADK_ENST00000286621.2_Missense_Mutation_p.R249T	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	249					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	ACTTTTGCTAGAGAGCAAGGC	0.338000													13	67					0	0	0.003163	0	0
CATSPERD	257062	broad.mit.edu	37	19	5727329	5727329	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:5727329C>A	ENST00000381624.3	+	3	238	c.177C>A	c.(175-177)tgC>tgA	p.C59*	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	59						integral to membrane											AACATCCTTGCGAGAAAAATA	0.328000													25	78					1.17739e-12	1.71748e-12	0.005443	1	0
ABCA6	23460	broad.mit.edu	37	17	67079441	67079441	+	Missense_Mutation	SNP	C	C	G	rs143326198	by1000genomes	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr17:67079441C>G	ENST00000284425.2	-	35	4561	c.4387G>C	c.(4387-4389)Gag>Cag	p.E1463Q	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1463	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACACCTCTCTCTGTGTTTTTA	0.453000													25	48					0	0	0.003271	0	0
NUP107	57122	broad.mit.edu	37	12	69121136	69121136	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr12:69121136A>C	ENST00000229179.4	+	20	2033	c.1701A>C	c.(1699-1701)gaA>gaC	p.E567D	NUP107_ENST00000539906.1_Missense_Mutation_p.E538D|NUP107_ENST00000378905.2_Missense_Mutation_p.E416D	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	567					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGAAGGAGGAAGTTTCTATTG	0.234000													14	61					0	0	0.003163	0	0
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr5:23527693T>C	ENST00000296682.3	+	11	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.Y832Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.587000										HNSCC(3;0.000094)			6	187					0	0	0.001984	0	0
MLIP	90523	broad.mit.edu	37	6	53989534	53989534	+	Silent	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:53989534C>A	ENST00000514921.1	+	3	596	c.483C>A	c.(481-483)ccC>ccA	p.P161P	MLIP_ENST00000370876.2_Silent_p.P99P|MLIP_ENST00000502396.1_Silent_p.P172P|MLIP_ENST00000509997.1_Silent_p.P109P|MLIP_ENST00000274897.5_Silent_p.P161P|MLIP_ENST00000370877.2_Silent_p.P109P|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Silent_p.P155P	NM_001281746.1	NP_001268675.1	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	161						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTGTCCGGCCCAAGTCTCTAG	0.527000													23	68					1.75199e-13	2.57931e-13	0.007291	1	0
SPIRE2	84501	broad.mit.edu	37	16	89916779	89916779	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:89916779G>A	ENST00000378247.3	+	3	399	c.356G>A	c.(355-357)cGc>cAc	p.R119H	SPIRE2_ENST00000393062.2_Missense_Mutation_p.R119H|SPIRE2_ENST00000564878.1_3'UTR	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	119	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		AGCGAGGAGCGCGAACTCAGC	0.701000													6	13					0	0	0.003080	0	0
SHROOM3	57619	broad.mit.edu	37	4	77700119	77700119	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:77700119T>C	ENST00000296043.6	+	11	6733	c.5780T>C	c.(5779-5781)aTg>aCg	p.M1927T	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1927	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TTCGTGAAAATGAAGTCCACG	0.547000													24	82					0	0	0.005443	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829367	146829367	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:146829367T>A	ENST00000361727.3	+	8	1630	c.1114T>A	c.(1114-1116)Tat>Aat	p.Y372N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	372					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGTGGAACCCTATACGGTGCC	0.448000										HNSCC(39;0.1)			37	95					0	0	0.003214	0	0
DICER1	23405	broad.mit.edu	37	14	95560364	95560364	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:95560364T>C	ENST00000526495.1	-	26	5516	c.5225A>G	c.(5224-5226)aAc>aGc	p.N1742S	DICER1_ENST00000527414.1_Missense_Mutation_p.N1742S|DICER1_ENST00000393063.1_Missense_Mutation_p.N1742S|DICER1_ENST00000556045.1_Missense_Mutation_p.N640S|DICER1_ENST00000343455.3_Missense_Mutation_p.N1742S|DICER1_ENST00000541352.1_Missense_Mutation_p.N1742S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1742	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAAGATGGTGTTGTTGACCAG	0.512000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				27	51					0	0	0.002836	0	0
TTN	7273	broad.mit.edu	37	2	179629296	179629296	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:179629296C>T	ENST00000589042.1	-	42	10170	c.9946G>A	c.(9946-9948)Gac>Aac	p.D3316N	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D3316N|TTN_ENST00000342175.6_Missense_Mutation_p.D3270N|TTN_ENST00000591111.1_Missense_Mutation_p.D3316N|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D3270N|TTN_ENST00000460472.2_Missense_Mutation_p.D3270N|TTN_ENST00000342992.6_Missense_Mutation_p.D3316N|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3042	Ig-like 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACCATAGTCATTCTTGGCT	0.453000													12	136					0	0	0.004007	0	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66297375	66297375	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:66297375G>A	ENST00000419755.3	+	14	1614	c.1536G>A	c.(1534-1536)ctG>ctA	p.L512L	BBS1_ENST00000393994.2_Silent_p.L346L|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Silent_p.L378L|BBS1_ENST00000318312.7_Silent_p.L475L																							AGTCCAGCCTGAGCCCCCTGT	0.667000													5	17					0	0	0.001168	0	0
SORCS3	22986	broad.mit.edu	37	10	106937850	106937850	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:106937850G>T	ENST00000369701.3	+	14	2155	c.1928G>T	c.(1927-1929)tGg>tTg	p.W643L	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	643						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGCCACTCTTGGGACAAGTAT	0.463000													12	54					0.000219431	0.00028598	0.002450	1	0
FAT3	120114	broad.mit.edu	37	11	92085844	92085844	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:92085844C>G	ENST00000298047.6	+	1	583	c.566C>G	c.(565-567)tCc>tGc	p.S189C	FAT3_ENST00000525166.1_Missense_Mutation_p.S39C|FAT3_ENST00000541502.1_Missense_Mutation_p.S189C|FAT3_ENST00000409404.2_Missense_Mutation_p.S189C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	189	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATATTGGTTCCAATGGAGAA	0.408000										TCGA Ovarian(4;0.039)			8	33					0	0	0.004482	0	0
DCHS2	54798	broad.mit.edu	37	4	155191121	155191121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:155191121G>A	ENST00000357232.4	-	19	5142	c.5143C>T	c.(5143-5145)Cag>Tag	p.Q1715*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGCTGTCCTGAATTGAGTCA	0.338000													21	69					0	0	0.005443	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102305084	102305084	+	RNA	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:102305084T>C	ENST00000561463.1	+	0	13130																											GACATCAACATGAACACCATC	0.632000													4	24					0	0	0.000248	0	0
MORC1	27136	broad.mit.edu	37	3	108812380	108812380	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:108812380G>T	ENST00000232603.5	-	8	674	c.592C>A	c.(592-594)Ctg>Atg	p.L198M	MORC1_ENST00000483760.1_Missense_Mutation_p.L198M	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	198					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						TAAATAACCAGCAAAGTACCT	0.363000													17	41					1.55795e-14	2.31508e-14	0.001882	1	0
SLC12A3	6559	broad.mit.edu	37	16	56920342	56920342	+	Silent	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:56920342C>G	ENST00000438926.2	+	16	2021	c.1992C>G	c.(1990-1992)acC>acG	p.T664T	SLC12A3_ENST00000566786.1_Silent_p.T663T|SLC12A3_ENST00000563236.1_Silent_p.T664T|SLC12A3_ENST00000262502.5_Silent_p.T663T	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	664					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTGTGGGCACCTTCACCCGGA	0.652000													12	100					0	0	0.004007	0	0
NXPH2	11249	broad.mit.edu	37	2	139429145	139429145	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:139429145C>A	ENST00000272641.3	-	2	248	c.142G>T	c.(142-144)Gtg>Ttg	p.V48L		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	48	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CTTGAGTGCACCACGTTGCCG	0.542000													33	132					5.43694e-19	8.1554e-19	0.005524	1	0
GIPR	2696	broad.mit.edu	37	19	46180989	46180989	+	Silent	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:46180989C>G	ENST00000590918.1	+	10	975	c.876C>G	c.(874-876)gtC>gtG	p.V292V	GIPR_ENST00000593127.1_Intron|GIPR_ENST00000304207.8_Silent_p.V256V|GIPR_ENST00000263281.3_Silent_p.V292V	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	292					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GCAACGAAGTCAAGGCCATTT	0.562000													60	249					0	0	0.003610	0	0
SORCS3	22986	broad.mit.edu	37	10	106918731	106918731	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:106918731C>A	ENST00000369701.3	+	11	1938	c.1711C>A	c.(1711-1713)Cca>Aca	p.P571T		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	571						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGAGACAGCCCCAGGACTTGT	0.428000													7	49					1.06961e-07	1.47886e-07	0.003080	1	0
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs143747399	by1000genomes	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433000													3	46					0	0	0.004672	0	0
PDS5B	23047	broad.mit.edu	37	13	33315272	33315272	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr13:33315272G>C	ENST00000315596.10	+	22	2647	c.2461G>C	c.(2461-2463)Gag>Cag	p.E821Q		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	821					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGTATCTCCTGAGACAATGGT	0.299000													12	44					0	0	0.004990	0	0
NCOR2	9612	broad.mit.edu	37	12	124846735	124846735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr12:124846735G>A	ENST00000356219.3	-	23	3189	c.3034C>T	c.(3034-3036)Cag>Tag	p.Q1012*	NCOR2_ENST00000405201.1_Nonsense_Mutation_p.Q1013*|NCOR2_ENST00000397355.1_Nonsense_Mutation_p.Q996*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.Q995*|NCOR2_ENST00000429285.2_Nonsense_Mutation_p.Q995*|NCOR2_ENST00000404121.2_Nonsense_Mutation_p.Q566*	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1013					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCAGGCTGCTGAGGGGCGTCG	0.721000													6	18					0	0	0.004482	0	0
SYNE2	23224	broad.mit.edu	37	14	64628873	64628873	+	Missense_Mutation	SNP	C	C	G	rs147173048	byFrequency	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:64628873C>G	ENST00000357395.3	+	89	16477	c.5333C>G	c.(5332-5334)gCt>gGt	p.A1778G	SYNE2_ENST00000554584.1_Missense_Mutation_p.A5310G|SYNE2_ENST00000555002.1_Missense_Mutation_p.A2027G|SYNE2_ENST00000358025.3_Missense_Mutation_p.A5393G|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.A5393G|SYNE2_ENST00000394768.2_Missense_Mutation_p.A1778G			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5393					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATAGCAATGCTCATGGTGAA	0.542000													4	120					0	0	0.000602	0	0
LRP2	4036	broad.mit.edu	37	2	170097513	170097513	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:170097513C>G	ENST00000263816.3	-	25	4315	c.4030G>C	c.(4030-4032)Gag>Cag	p.E1344Q	LRP2_ENST00000443831.1_Missense_Mutation_p.E1207Q	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1344	LDL-receptor class A 15.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTGGGGACTCATCTGTCCCA	0.483000													28	78					0	0	0.001512	0	0
ZNF645	158506	broad.mit.edu	37	X	22291514	22291514	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chrX:22291514C>T	ENST00000323684.1	+	1	450	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	136						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TCATATCAAACGCCGCCATAA	0.438000													11	22					0	0	0.001368	0	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124513	26124513	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:26124513G>C	ENST00000602637.1	+	1	83	c.53G>C	c.(52-54)cGc>cCc	p.R18P	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.R18P			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	18					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						GCGAAATCCCGCTCTTCTCGC	0.597000													13	38					0	0	0.006122	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48601511	48601511	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:48601511C>T	ENST00000354276.3	-	6	780	c.453G>A	c.(451-453)ccG>ccA	p.P151P	PLA2G4C_ENST00000413144.2_Silent_p.P151P|PLA2G4C_ENST00000599921.1_Silent_p.P151P|PLA2G4C_ENST00000599111.1_Silent_p.P161P	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	151	PLA2c.		P -> L (in dbSNP:rs11564538).		arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AATGAGACTCCGGCAGCTTTG	0.527000													4	47					0	0	0.000248	0	0
CCDC60	160777	broad.mit.edu	37	12	119909888	119909888	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr12:119909888A>G	ENST00000327554.2	+	3	725	c.260A>G	c.(259-261)cAg>cGg	p.Q87R	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	87										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CAACAACTTCAGAAACTGAAA	0.423000													27	99					0	0	0.001786	0	0
ENPP3	5169	broad.mit.edu	37	6	131995363	131995363	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:131995363A>G	ENST00000414305.1	+	9	1032	c.704A>G	c.(703-705)aAg>aGg	p.K235R	ENPP3_ENST00000543135.1_Missense_Mutation_p.K201R|ENPP3_ENST00000427148.2_Missense_Mutation_p.K201R|ENPP3_ENST00000357639.3_Missense_Mutation_p.K235R|ENPP3_ENST00000358229.5_Missense_Mutation_p.K235R			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	235	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AATCTCAACAAGAATTTTTCA	0.348000													3	47					0	0	0.004672	0	0
POTEG	404785	broad.mit.edu	37	14	19553707	19553707	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:19553707G>T	ENST00000409832.3	+	1	343	c.291G>T	c.(289-291)aaG>aaT	p.K97N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	97								p.K97N(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TCAGGAGCAAGATGGGCAAGT	0.622000													13	621					1.87028e-06	2.56358e-06	0.001882	1	0
USH1C	10083	broad.mit.edu	37	11	17537792	17537792	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:17537792C>T	ENST00000005226.7	-	15	1255	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000318024.4_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TCCTACCTTCCGGATGGTTGG	0.453000													7	33					0	0	0.003080	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718896	140718896	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr5:140718896G>C	ENST00000394576.2	+	1	358	c.358G>C	c.(358-360)Gag>Cag	p.E120Q	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATTCAGTAGAGGTGGAAAT	0.458000													5	54					0	0	0.001984	0	0
XIRP2	129446	broad.mit.edu	37	2	168114455	168114455	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:168114455G>A	ENST00000409728.1	+	11	1587	c.1498G>A	c.(1498-1500)Ggt>Agt	p.G500S	XIRP2_ENST00000420519.1_Missense_Mutation_p.G500S|XIRP2_ENST00000409605.1_Missense_Mutation_p.G245S|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.G467S|XIRP2_ENST00000409756.2_Missense_Mutation_p.G467S|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTATGATGAAGGTTTTGGACA	0.323000													14	47					0	0	0.002450	0	0
HOXD1	3231	broad.mit.edu	37	2	177054696	177054696	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:177054696G>A	ENST00000331462.4	+	2	1036	c.813G>A	c.(811-813)acG>acA	p.T271T		NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	271						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		TGAATGACACGCAAGTCAAAA	0.498000													7	211					0	0	0.004482	0	0
SMTN	6525	broad.mit.edu	37	22	31486843	31486843	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr22:31486843C>T	ENST00000333137.7	+	9	1133	c.915C>T	c.(913-915)ccC>ccT	p.P305P	SMTN_ENST00000347557.2_Silent_p.P305P|SMTN_ENST00000358743.1_Silent_p.P305P	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	305					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TGCTCAGCCCCCGCCAACCAG	0.622000													71	177					0	0	0.003610	0	0
TLN2	83660	broad.mit.edu	37	15	62939540	62939540	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:62939540C>T	ENST00000561311.1	+	3	261	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	TLN2_ENST00000306829.6_Missense_Mutation_p.R11C			Q9Y4G6	TLN2_HUMAN	talin 2	11					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						GATTTGTGTGCGCCACTGCAA	0.488000													26	84					0	0	0.001512	0	0
XRCC5	7520	broad.mit.edu	37	2	216992289	216992289	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:216992289A>G	ENST00000392133.3	+	10	1290	c.829A>G	c.(829-831)Aca>Gca	p.T277A	XRCC5_ENST00000392132.2_Missense_Mutation_p.T277A			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	277	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	p.T277P(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AAAGACTTGGACAGTTGTGGA	0.308000								Non-homologous end-joining					12	47					0	0	0.001855	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839161	128839161	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:128839161C>G	ENST00000310343.9	-	22	5904	c.5905G>C	c.(5905-5907)Gag>Cag	p.E1969Q	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E1620Q|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E1620Q|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1969	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGTTCTTCCTCCTTGTAGCAG	0.537000													20	97					0	0	0.003330	0	0
LYZL2	119180	broad.mit.edu	37	10	30915167	30915167	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:30915167G>A	ENST00000375318.2	-	3	359	c.303C>T	c.(301-303)agC>agT	p.S101S		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	55					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TGTTGTAGCCGCTCTCATAAT	0.557000													19	50					0	0	0.001523	0	0
PRRC2C	23215	broad.mit.edu	37	1	171510162	171510162	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:171510162G>T	ENST00000367742.3	+	16	3799	c.3557G>T	c.(3556-3558)gGa>gTa	p.G1186V	PRRC2C_ENST00000426496.2_Missense_Mutation_p.G1184V|PRRC2C_ENST00000338920.4_Missense_Mutation_p.G1184V|PRRC2C_ENST00000392078.3_Missense_Mutation_p.G1186V			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1184							protein C-terminus binding										CCAGATCAAGGATACAGAGGT	0.493000													13	64					4.36969e-10	6.1485e-10	0.001855	1	0
ABCA9	10350	broad.mit.edu	37	17	67029998	67029998	+	Missense_Mutation	SNP	T	T	C	rs138456095	by1000genomes	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr17:67029998T>C	ENST00000340001.4	-	9	1356	c.1145A>G	c.(1144-1146)tAt>tGt	p.Y382C	ABCA9_ENST00000453985.2_Missense_Mutation_p.Y382C|ABCA9_ENST00000370732.2_Missense_Mutation_p.Y382C	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	382					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATTCACATCATAGTCCAAATG	0.308000													35	149					0	0	0.002852	0	0
MBOAT7	79143	broad.mit.edu	37	19	54692102	54692102	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:54692102C>A	ENST00000245615.1	-	3	655	c.175G>T	c.(175-177)Ggg>Tgg	p.G59W	MBOAT7_ENST00000391754.1_Missense_Mutation_p.G59W|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Missense_Mutation_p.R28L|MBOAT7_ENST00000338624.6_Missense_Mutation_p.R28L	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	59					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCAGGTCCCGAGGATGGTG	0.622000													25	100					3.67414e-24	5.67173e-24	0.002445	1	0
SIX4	51804	broad.mit.edu	37	14	61186531	61186531	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:61186531C>T	ENST00000216513.4	-	2	1555	c.1496G>A	c.(1495-1497)aGc>aAc	p.S499N		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	499						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAATCCAATGCTCCCATTAAG	0.478000													20	84					0	0	0.004656	0	0
OR5I1	10798	broad.mit.edu	37	11	55703362	55703362	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:55703362T>A	ENST00000301532.3	-	1	514	c.515A>T	c.(514-516)gAc>gTc	p.D172V		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AACATTTTTGTCACAATATTT	0.428000													17	39					0	0	0.006122	0	0
ENTHD1	150350	broad.mit.edu	37	22	40161511	40161511	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr22:40161511G>A	ENST00000325157.6	-	6	1186	c.936C>T	c.(934-936)ctC>ctT	p.L312L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	312										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GTGTTTCCAAGAGGTTTTCTG	0.413000													41	128					0	0	0.003610	0	0
HSD17B14	51171	broad.mit.edu	37	19	49316806	49316806	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:49316806G>A	ENST00000263278.4	-	8	812	c.546C>T	c.(544-546)atC>atT	p.I182I	HSD17B14_ENST00000599157.1_Silent_p.I158I	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	182					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		TTCCTGGGGAGATACTAGAGG	0.607000													6	28					0	0	0.001984	0	0
IREB2	3658	broad.mit.edu	37	15	78780657	78780657	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:78780657G>A	ENST00000258886.8	+	15	2079	c.1930G>A	c.(1930-1932)Gat>Aat	p.D644N		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	644							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AGTGAATATAGATTTCCAGAC	0.363000													17	77					0	0	0.001882	0	0
RANBP2	5903	broad.mit.edu	37	2	109379691	109379691	+	Splice_Site	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:109379691A>G	ENST00000283195.6	+	20	2823		c.e20-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCTGTCTTTTAGGGCCCAGTC	0.398000													16	39					0	0	0.006122	0	0
SSPO	23145	broad.mit.edu	37	7	149522398	149522398	+	RNA	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:149522398C>T	ENST00000378016.2	+	0	14028							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTATTCACCCTGGACTGTG	0.637000													67	135					0	0	0.003610	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740084	140740084	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr5:140740084G>A	ENST00000522605.1	+	1	382	c.382G>A	c.(382-384)Gat>Aat	p.D128N	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATATAAATGATAATACCCC	0.398000													14	29					0	0	0.002450	0	0
FAM8A1	51439	broad.mit.edu	37	6	17601039	17601039	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:17601039C>T	ENST00000259963.3	+	1	454	c.399C>T	c.(397-399)agC>agT	p.S133S		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	133						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			CCTGGCACAGCGGCCTGGCCG	0.736000													12	49					0	0	0.002450	0	0
WAC	51322	broad.mit.edu	37	10	28908493	28908493	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:28908493G>A	ENST00000375664.4	+	14	2376	c.1767G>A	c.(1765-1767)aaG>aaA	p.K589K	WAC_ENST00000375646.1_Silent_p.K482K|WAC_ENST00000354911.4_Silent_p.K634K|WAC_ENST00000347934.4_Silent_p.K531K			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AACAAATTAAGGAACTTGAAA	0.318000													11	25					0	0	0.001855	0	0
MSGN1	343930	broad.mit.edu	37	2	17998336	17998336	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:17998336G>A	ENST00000281047.3	+	1	574	c.551G>A	c.(550-552)cGc>cAc	p.R184H		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	184					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTCCTTAACCGCGGCAGAGAG	0.577000													13	49					0	0	0.006122	0	0
LVRN	206338	broad.mit.edu	37	5	115323525	115323525	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr5:115323525C>T	ENST00000357872.4	+	4	1118	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		332					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.R332W(1)									CATCTGGGCCCGGAAAGATGC	0.418000													13	75					0	0	0.002450	0	0
HEPHL1	341208	broad.mit.edu	37	11	93844208	93844208	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:93844208C>T	ENST00000315765.9	+	18	3193	c.3185C>T	c.(3184-3186)aCc>aTc	p.T1062I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1062	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATGGAGACAACCTACACGGTC	0.512000													5	18					0	0	0.001168	0	0
ITCH	83737	broad.mit.edu	37	20	33028050	33028050	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr20:33028050C>A	ENST00000374864.4	+	9	983	c.770C>A	c.(769-771)tCt>tAt	p.S257Y	ITCH_ENST00000262650.6_Missense_Mutation_p.S298Y|ITCH_ENST00000535650.1_Missense_Mutation_p.S147Y	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	298	Arg/Pro-rich (PRR domain).				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ACAAATACATCTGAAGGAGCA	0.448000													17	59					2.35188e-11	3.33883e-11	0.006122	1	0
DSG2	1829	broad.mit.edu	37	18	29126318	29126318	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr18:29126318G>C	ENST00000261590.8	+	15	3178	c.2969G>C	c.(2968-2970)aGa>aCa	p.R990T	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	990					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTCACTGAAAGAGTAATACAG	0.483000													10	27					0	0	0.006214	0	0
CREBBP	1387	broad.mit.edu	37	16	3807992	3807992	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:3807992C>G	ENST00000262367.5	-	18	4236	c.3427G>C	c.(3427-3429)Gac>Cac	p.D1143H	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1105H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1143	Bromo.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCCCTGTGTCCAGCTTCCGC	0.463000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						9	31					0	0	0.000978	0	0
DEFA5	1670	broad.mit.edu	37	8	6914048	6914048	+	Splice_Site	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr8:6914048C>A	ENST00000330590.2	-	1	208	c.172G>T	c.(172-174)Ggt>Tgt	p.G58C		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	58					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TGTCTCCTACCTGAGGTTCTA	0.463000													8	77					3.07112e-06	4.1382e-06	0.000978	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102305092	102305092	+	RNA	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:102305092A>G	ENST00000561463.1	+	0	13138																											CATGAACACCATCAGCACAGC	0.632000													3	26					0	0	0.004672	0	0
GRID1	2894	broad.mit.edu	37	10	87487630	87487630	+	Silent	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:87487630G>T	ENST00000327946.7	-	10	1600	c.1515C>A	c.(1513-1515)atC>atA	p.I505I	GRID1_ENST00000536331.1_Silent_p.I76I	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	505						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGAGCTCCCCGATCATCCCGT	0.532000										Multiple Myeloma(13;0.14)			13	51					3.52763e-06	4.71339e-06	0.004990	1	0
SIRPB2	284759	broad.mit.edu	37	20	1460373	1460373	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr20:1460373C>T	ENST00000359801.3	-	2	459	c.423G>A	c.(421-423)tcG>tcA	p.S141S	SIRPB2_ENST00000537284.1_Silent_p.S3S|SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000608747.1_Intron	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	141	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGCCTTCATCCGATTTCATTT	0.478000													79	192					0	0	0.003610	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750503	79750503	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:79750503G>A	ENST00000305428.3	+	2	2089	c.2014G>A	c.(2014-2016)Gga>Aga	p.G672R		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	672						integral to membrane		p.G672R(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGGCTCCCACGGACCCAAACT	0.547000													100	236					0	0	0.003610	0	0
PRMT7	54496	broad.mit.edu	37	16	68349908	68349908	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:68349908A>G	ENST00000339507.5	+	3	856	c.26A>G	c.(25-27)aAt>aGt	p.N9S	PRMT7_ENST00000449359.3_Missense_Mutation_p.N9S|PRMT7_ENST00000564441.1_Intron|PRMT7_ENST00000441236.1_Missense_Mutation_p.N9S|PRMT7_ENST00000348497.4_Missense_Mutation_p.N9S			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	9					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		AGTCGGGCCAATCCGACCACG	0.532000													13	53					0	0	0.001882	0	0
ANK2	287	broad.mit.edu	37	4	114286340	114286340	+	Splice_Site	SNP	T	T	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:114286340T>G	ENST00000357077.4	+	41	11085		c.e41+2		ANK2_ENST00000264366.6_Splice_Site|ANK2_ENST00000509550.1_Splice_Site|ANK2_ENST00000394537.3_Splice_Site|ANK2_ENST00000506722.1_Splice_Site|ANK2_ENST00000510275.2_Splice_Site	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATAGTGAAGGTCAAACtgtgt	0.428000													7	49					0	0	0.001984	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83876119	83876119	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:83876119G>A	ENST00000299633.4	-	1	651	c.48C>T	c.(46-48)ttC>ttT	p.F16F	RP11-382A20.4_ENST00000565495.1_RNA	NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		16	PWWP.				cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCATCTTGGCGAAGACCAGGT	0.721000													3	16					0	0	0.000248	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43939394	43939394	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:43939394A>T	ENST00000282406.4	+	15	2442	c.2332A>T	c.(2332-2334)Act>Tct	p.T778S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	778	PH 1.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATACTATCTGACTGCAGATTC	0.408000													27	132					0	0	0.003755	0	0
THBS2	7058	broad.mit.edu	37	6	169632172	169632172	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:169632172G>A	ENST00000366787.3	-	14	2303	c.2054C>T	c.(2053-2055)gCg>gTg	p.A685V	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	685	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCCGTCGCCCGCGTAGCCTGT	0.622000													30	89					0	0	0.002445	0	0
ENO1	2023	broad.mit.edu	37	1	8934961	8934961	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:8934961T>C	ENST00000234590.4	-	2	126	c.7A>G	c.(7-9)Att>Gtt	p.I3V		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	3					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		ATCTTGAGAATAGACATGGTG	0.448000													38	38					0	0	0.007835	0	0
EFHB	151651	broad.mit.edu	37	3	19947209	19947209	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:19947209T>C	ENST00000295824.9	-	6	1482	c.1321A>G	c.(1321-1323)Agt>Ggt	p.S441G	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.S311G	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	441					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTATGGAAACTTGATGGGTTA	0.398000													27	43					0	0	0.006320	0	0
MROH8	140699	broad.mit.edu	37	20	35743603	35743603	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr20:35743603C>T	ENST00000400441.3	-	19	2507	c.2508G>A	c.(2506-2508)atG>atA	p.M836I	MROH8_ENST00000441008.2_Missense_Mutation_p.M822I|MROH8_ENST00000217333.8_Missense_Mutation_p.M665I					maestro heat-like repeat family member 8																		ACAGGGTCCTCATCATGGCAG	0.458000													7	60					0	0	0.001984	0	0
NALCN	259232	broad.mit.edu	37	13	101944345	101944345	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr13:101944345G>C	ENST00000251127.6	-	9	1124	c.1043C>G	c.(1042-1044)aCc>aGc	p.T348S	NALCN_ENST00000376196.3_Missense_Mutation_p.T348S|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	348						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCGTACCTGGGTGGTGGCTGT	0.468000													13	101					0	0	0.006122	0	0
MALT1	10892	broad.mit.edu	37	18	56414989	56414989	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr18:56414989A>G	ENST00000348428.3	+	17	2648	c.2390A>G	c.(2389-2391)cAt>cGt	p.H797R	MALT1_ENST00000345724.3_Missense_Mutation_p.H786R|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	797					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GCTTCATGTCATTTTAGTAGA	0.398000			T	BIRC3	MALT								49	170					0	0	0.003610	0	0
USP34	9736	broad.mit.edu	37	2	61566811	61566811	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:61566811C>T	ENST00000398571.2	-	17	2582	c.2506G>A	c.(2506-2508)Gta>Ata	p.V836I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	836					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTATGAACTACAGGTCCTGAA	0.328000													6	18					0	0	0.001168	0	0
DYSF	8291	broad.mit.edu	37	2	71892312	71892312	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:71892312G>A	ENST00000258104.3	+	46	5355	c.5078G>A	c.(5077-5079)cGg>cAg	p.R1693Q	DYSF_ENST00000409651.1_Missense_Mutation_p.R1725Q|DYSF_ENST00000410041.1_Missense_Mutation_p.R1711Q|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Missense_Mutation_p.R1701Q|DYSF_ENST00000394120.2_Missense_Mutation_p.R1694Q|DYSF_ENST00000409582.3_Missense_Mutation_p.R1731Q|DYSF_ENST00000409762.1_Missense_Mutation_p.R1710Q|DYSF_ENST00000413539.2_Missense_Mutation_p.R1724Q|DYSF_ENST00000410020.3_Missense_Mutation_p.R1732Q|DYSF_ENST00000429174.2_Missense_Mutation_p.R1714Q|DYSF_ENST00000409366.1_Missense_Mutation_p.R1715Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1693			R -> Q (in MMD1).|R -> W (in MMD1).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AACCAGTGGCGGGACCAGCTC	0.562000													42	167					0	0	0.003610	0	0
NIN	51199	broad.mit.edu	37	14	51206189	51206189	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:51206189A>G	ENST00000245441.5	-	26	5655	c.5465T>C	c.(5464-5466)aTa>aCa	p.I1822T	NIN_ENST00000389868.3_Missense_Mutation_p.I1109T|NIN_ENST00000324330.9_Missense_Mutation_p.I1822T|NIN_ENST00000530997.2_Missense_Mutation_p.I1822T|NIN_ENST00000382041.3_Missense_Mutation_p.I1822T|NIN_ENST00000382043.4_Missense_Mutation_p.I1109T|NIN_ENST00000453196.1_Missense_Mutation_p.I1822T	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1822					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ATGAGTAGCTATCTCTGGGGC	0.463000			T	PDGFRB	MPD								15	47					0	0	0.006122	0	0
DEPDC5	9681	broad.mit.edu	37	22	32239701	32239701	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr22:32239701G>A	ENST00000400246.1	+	29	2846	c.2704G>A	c.(2704-2706)Gtc>Atc	p.V902I	DEPDC5_ENST00000266091.3_Missense_Mutation_p.V902I|DEPDC5_ENST00000400248.2_Missense_Mutation_p.V893I|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V902I|DEPDC5_ENST00000382112.3_Missense_Mutation_p.V893I|DEPDC5_ENST00000535622.1_Missense_Mutation_p.V824I|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V893I|DEPDC5_ENST00000382105.2_Missense_Mutation_p.V824I			O75140	DEPD5_HUMAN	DEP domain containing 5	893					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTCAGAGTTCGTCTCCTGCTG	0.498000													47	103					0	0	0.003610	0	0
CEP57L1	285753	broad.mit.edu	37	6	109484117	109484117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:109484117C>T	ENST00000407272.1	+	13	1904	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	CEP57L1_ENST00000521522.1_Nonsense_Mutation_p.R390*|CEP57L1_ENST00000523787.1_Nonsense_Mutation_p.R446*|CEP57L1_ENST00000368970.2_Nonsense_Mutation_p.R460*|CEP57L1_ENST00000368968.2_3'UTR|CEP57L1_ENST00000359793.3_Nonsense_Mutation_p.R443*|CEP57L1_ENST00000336977.4_Nonsense_Mutation_p.R343*|CEP57L1_ENST00000520883.1_Nonsense_Mutation_p.R343*|CEP57L1_ENST00000517392.1_Nonsense_Mutation_p.R443*	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	443						microtubule|microtubule organizing center		p.R443*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						TCATCCAATACGAGTTCATAA	0.358000													6	30					0	0	0.001168	0	0
FMO5	2330	broad.mit.edu	37	1	146684955	146684955	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:146684955delT	ENST00000254090.4	-	4	795	c.407delA	c.(406-408)aagfs	p.K136fs	FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000441068.2_Frame_Shift_Del_p.K136fs|FMO5_ENST00000369272.3_Frame_Shift_Del_p.K136fs|RP11-337C18.10_ENST00000606856.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	136						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					ATTCATCTCCTTTTTCCCTTC	0.473													8	600	---	---	---	---					
SEC31A	22872	broad.mit.edu	37	4	83785565	83785565	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:83785565delT	ENST00000432794.1	-	11	1547	c.1384delA	c.(1384-1386)attfs	p.I462fs	SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I234fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I457fs|SEC31A_ENST00000508479.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000395310.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I462fs			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)				GAAGCATCAATTTTTTTTTGG	0.353													7	60	---	---	---	---					
NFE2L3	9603	broad.mit.edu	37	7	26224583	26224584	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:26224583_26224584insT	ENST00000056233.3	+	4	1524_1525	c.1265_1266insT	c.(1264-1269)tctttafs	p.L423fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	423					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TCTGGCCTTTCTTTAGATTCAA	0.376													82	120	---	---	---	---					
GLI3	2737	broad.mit.edu	37	7	42116455	42116456	+	Splice_Site	INS	-	-	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:42116455_42116456insT	ENST00000395925.3	-	4	452_453	c.368_369insA	c.(367-369)cac>caAc	p.H123fs	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	123					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GATGAGGAGGGTCTGAAAAGAA	0.436									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				12	45	---	---	---	---					
KBTBD11	9920	broad.mit.edu	37	8	1949854	1949855	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr8:1949854_1949855delCG	ENST00000320248.3	+	2	1462_1463	c.496_497delCG	c.(496-498)cgcfs	p.R166fs		NM_014867.2	NP_055682.1	O94819	KBTBB_HUMAN	kelch repeat and BTB (POZ) domain containing 11	166	BTB.									lung(1)|pancreas(1)	2		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)		CGACTACTTCCGCGCGCGCGCG	0.767													2	4	---	---	---	---					
TET1	80312	broad.mit.edu	37	10	70446227	70446228	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:70446227_70446228insA	ENST00000373644.4	+	11	5376_5377	c.5167_5168insA	c.(5167-5169)gaafs	p.E1723fs		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1723					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGGCTCCAAGGAAGGAATGGAA	0.495													26	88	---	---	---	---					
CDHR1	92211	broad.mit.edu	37	10	85974343	85974345	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:85974343_85974345delAGA	ENST00000372117.3	+	17	2649_2651	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K851del	CDHR1_ENST00000440770.2_In_Frame_Del_p.K555del|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	851					homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CAAAAGTTTGAGAAGAAGAGTGT	0.562											OREG0020334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	121	---	---	---	---					
SCD	6319	broad.mit.edu	37	10	102107836	102107838	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:102107836_102107838delACC	ENST00000370355.2	+	2	424_426	c.43_45delACC	c.(43-45)accdel	p.T19del		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	19					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581													8	229	---	---	---	---					
RP11-405A12.2	0	broad.mit.edu	37	12	20096041	20096042	+	RNA	INS	-	-	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr12:20096041_20096042insA	ENST00000535764.1	+	0	212																											AACAAGCTGTTAAAAAAAAAAT	0.307													3	5	---	---	---	---					
PCNX	22990	broad.mit.edu	37	14	71568799	71568800	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:71568799_71568800insT	ENST00000304743.2	+	31	6128_6129	c.5682_5683insT	c.(5683-5685)gggfs	p.G1895fs	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Frame_Shift_Ins_p.G1823fs|PCNX_ENST00000439984.3_Frame_Shift_Ins_p.G1784fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1895						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TAGCCCATGAAGGGGACCCTGC	0.450													25	240	---	---	---	---					
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)gagdel	p.E91del	COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	91					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576													7	251	---	---	---	---					
AKAP10	11216	broad.mit.edu	37	17	19880956	19880956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr17:19880956delG	ENST00000225737.6	-	1	194	c.37delC	c.(37-39)cgcfs	p.R13fs	AKAP10_ENST00000395536.3_Frame_Shift_Del_p.R13fs|AKAP10_ENST00000572155.1_Intron	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	13					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CGGAGGGTGCGGGGGGACTGG	0.746													2	4	---	---	---	---					
RP13-516M14.2	0	broad.mit.edu	37	17	80173535	80173535	+	RNA	DEL	C	C	-	rs112012232		TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr17:80173535delC	ENST00000581303.1	+	0	1371																											tccttccctgccccccacact	0.701													4	5	---	---	---	---					
ATP4A	495	broad.mit.edu	37	19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGCCACCCGCCTTCTTCTTCTTG	0.601													7	555	---	---	---	---					
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)			8	86	---	---	---	---					
