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
MT-CO1	4512	broad.mit.edu	37	MT	6227	6227	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chrM:6227T>C	ENST00000361624.2	+	1	324	c.324T>C	c.(322-324)tcT>tcC	p.108_108insS						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TTACCTCCCTCTCTCCTACTC	0.542000													11	5					0	0	0.435327	0	0
PCNXL2	80003	broad.mit.edu	37	1	233344354	233344354	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:233344354C>T	ENST00000258229.8	-	13	3007	c.2773G>A	c.(2773-2775)Gcc>Acc	p.A925T	PCNXL2_ENST00000430153.1_Missense_Mutation_p.A224T|PCNXL2_ENST00000488780.2_Missense_Mutation_p.A58T	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	925						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTGGCTTTGGCCCCTGTATCA	0.423000													14	91					0	0	0.435327	0	0
SHROOM1	134549	broad.mit.edu	37	5	132158586	132158586	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:132158586T>C	ENST00000378679.3	-	10	3265	c.2461A>G	c.(2461-2463)Agg>Ggg	p.R821G	SHROOM1_ENST00000378676.1_Missense_Mutation_p.R752G|SHROOM1_ENST00000319854.3_Missense_Mutation_p.R816G	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	821	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGTCGTCCCTGATGGCGTCC	0.672000													3	48					0	0	0.115264	0	0
NLRP14	338323	broad.mit.edu	37	11	7064302	7064302	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:7064302G>A	ENST00000299481.4	+	4	1391	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	349	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TAAGAGGTGGGCCATGAAAGT	0.428000													26	202					0	0	0.681144	0	0
ZNF582	147948	broad.mit.edu	37	19	56895640	56895640	+	Silent	SNP	G	G	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr19:56895640G>C	ENST00000301310.4	-	5	1304	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	ZNF582_ENST00000586929.1_Silent_p.L382L	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GATGTTGCTTGAGTTGTGAGC	0.433000													4	150					0	0	0.150653	0	0
NFIB	4781	broad.mit.edu	37	9	14307185	14307185	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr9:14307185C>A	ENST00000380959.3	-	2	838	c.365G>T	c.(364-366)cGa>cTa	p.R122L	NFIB_ENST00000397575.3_Missense_Mutation_p.R122L|NFIB_ENST00000397579.2_Missense_Mutation_p.R122L|NFIB_ENST00000397581.2_Missense_Mutation_p.R122L|NFIB_ENST00000380953.1_Missense_Mutation_p.R122L|NFIB_ENST00000380921.3_Missense_Mutation_p.R122L|NFIB_ENST00000380934.4_Missense_Mutation_p.R148L	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	122					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GTCTGCCTGTCGCAGGCAGTC	0.532000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								7	196					0.0381472	0.0405314	0.278610	1	0
ZNF513	130557	broad.mit.edu	37	2	27600997	27600997	+	Silent	SNP	A	A	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:27600997A>C	ENST00000323703.6	-	4	1239	c.1041T>G	c.(1039-1041)ggT>ggG	p.G347G	ZNF513_ENST00000407879.1_Silent_p.G285G|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	347					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCACTGGCACCCCCTCCAG	0.662000													6	53					0	0	0.819951	0	0
KLF4	9314	broad.mit.edu	37	9	110249405	110249405	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr9:110249405G>A	ENST00000374672.4	-	4	1641	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	424	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GTCCTTTTCCGGGGCCACGAT	0.587000													88	161					0	0	0.870114	0	0
GRM1	2911	broad.mit.edu	37	6	146720659	146720659	+	Silent	SNP	G	G	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr6:146720659G>C	ENST00000392299.2	+	8	2954	c.2484G>C	c.(2482-2484)ggG>ggC	p.G828G	GRM1_ENST00000492807.2_Silent_p.G828G|GRM1_ENST00000361719.2_Silent_p.G828G|GRM1_ENST00000282753.1_Silent_p.G828G|GRM1_ENST00000507907.1_Silent_p.G828G|GRM1_ENST00000355289.4_Silent_p.G828G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	828					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGGCTCTGGGGTGCATGTTCA	0.488000													9	116					0	0	0.335167	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29855551	29855551	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr17:29855551C>T	ENST00000325874.8	+	12	1713	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.A393V	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	495	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GAGCGGGAGGCGACGCAGGAG	0.612000													7	138					0	0	0.307466	0	0
CHMP1A	5119	broad.mit.edu	37	16	89715806	89715806	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr16:89715806C>T	ENST00000397901.3	-	4	461	c.205G>A	c.(205-207)Gta>Ata	p.V69I	CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000550102.1_Missense_Mutation_p.V69I|CHMP1A_ENST00000535997.2_Missense_Mutation_p.V5I|CHMP1A_ENST00000253475.5_Missense_Mutation_p.R62H	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	69					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		ACTGCGTCTACGCGGGACGCC	0.597000													67	137					0	0	0.870114	0	0
KRT36	8689	broad.mit.edu	37	17	39642800	39642800	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr17:39642800G>A	ENST00000393986.2	-	8	1294	c.1082C>T	c.(1081-1083)aCg>aTg	p.T361M	KRT36_ENST00000328119.6_Missense_Mutation_p.T411M			O76013	KRT36_HUMAN	keratin 36	411	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CTTGCATGCCGTGGCACAAGG	0.577000													4	25					0	0	0.184627	0	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													5	42					0	0	0.217242	0	0
LGR5	8549	broad.mit.edu	37	12	71978453	71978453	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr12:71978453C>T	ENST00000266674.5	+	18	2974	c.2663C>T	c.(2662-2664)cCa>cTa	p.P888L	LGR5_ENST00000540815.2_Missense_Mutation_p.P864L|LGR5_ENST00000536515.1_Missense_Mutation_p.P816L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	888						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTGCCATCACCAGCTTATCCA	0.458000													86	177					0	0	0.870114	0	0
DMRTC2	63946	broad.mit.edu	37	19	42353197	42353197	+	Splice_Site	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr19:42353197G>A	ENST00000269945.3	+	6	679		c.e6-1		DMRTC2_ENST00000596827.1_Splice_Site	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2						cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						ATTCTTATTAGGCTTTGACCC	0.527000													6	181					0	0	0.248553	0	0
FLG	2312	broad.mit.edu	37	1	152282227	152282227	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:152282227C>T	ENST00000368799.1	-	3	5170	c.5135G>A	c.(5134-5136)cGa>cAa	p.R1712Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1712	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1712P(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGACCCTCGGTTTCCACT	0.592000									Ichthyosis				16	574					0	0	0.520397	0	0
RIF1	55183	broad.mit.edu	37	2	152293371	152293371	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:152293371C>A	ENST00000243326.4	+	11	1709	c.1226C>A	c.(1225-1227)aCt>aAt	p.T409N	RIF1_ENST00000444746.2_Missense_Mutation_p.T409N|RIF1_ENST00000428287.2_Missense_Mutation_p.T409N|RIF1_ENST00000430328.2_Missense_Mutation_p.T409N|RIF1_ENST00000433166.2_Missense_Mutation_p.L339I|RIF1_ENST00000453091.2_Missense_Mutation_p.T409N			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	409					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCCCCGGGAACTCCCCGAATG	0.418000													11	114					4.68919e-08	5.08827e-08	0.361761	1	0
MIB2	142678	broad.mit.edu	37	1	1560729	1560729	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:1560729A>G	ENST00000357210.4	+	7	1175	c.959A>G	c.(958-960)aAg>aGg	p.K320R	MIB2_ENST00000520777.1_Missense_Mutation_p.K377R|MIB2_ENST00000378708.1_Missense_Mutation_p.K262R|MIB2_ENST00000378712.1_Missense_Mutation_p.K197R|MIB2_ENST00000518681.1_Missense_Mutation_p.K312R|MIB2_ENST00000360522.4_Missense_Mutation_p.K320R|MIB2_ENST00000505820.2_Missense_Mutation_p.K377R|MIB2_ENST00000355826.5_Missense_Mutation_p.K363R|MIB2_ENST00000504599.1_Missense_Mutation_p.K276R|MIB2_ENST00000378710.3_Missense_Mutation_p.K320R	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	320					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACGGGGACAAGGTCAAGTGT	0.697000													2	6					0	0	0.115264	0	0
PICALM	8301	broad.mit.edu	37	11	85692181	85692181	+	Silent	SNP	A	A	C	rs76719109	byFrequency	TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:85692181A>C	ENST00000526033.1	-	17	2065	c.1749T>G	c.(1747-1749)gcT>gcG	p.A583A	PICALM_ENST00000356360.5_Silent_p.A590A|PICALM_ENST00000532317.1_Silent_p.A540A|PICALM_ENST00000528398.1_Silent_p.A489A|PICALM_ENST00000393346.3_Silent_p.A590A	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	590					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	p.A590A(1)		endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CCATTGTTGCAGCATTCCAAG	0.343000			T	"""MLLT10, MLL"""	"""TALL, AML, """								6	201					0	0	0.217242	0	0
GPANK1	7918	broad.mit.edu	37	6	31630382	31630382	+	Silent	SNP	A	A	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr6:31630382A>C	ENST00000375906.1	-	4	1416	c.732T>G	c.(730-732)ccT>ccG	p.P244P	GPANK1_ENST00000375895.2_Silent_p.P244P|GPANK1_ENST00000375893.2_Silent_p.P244P|GPANK1_ENST00000375900.4_Silent_p.P244P|GPANK1_ENST00000375896.4_Silent_p.P244P	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	244						intracellular	nucleic acid binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						TGGGAGGCTGAGGACCCTGCG	0.632000													4	115					0	0	0.184627	0	0
NIPBL	25836	broad.mit.edu	37	5	37008732	37008732	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:37008732C>G	ENST00000282516.8	+	20	4827	c.4328C>G	c.(4327-4329)tCa>tGa	p.S1443*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.S1443*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1443					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGGTATTCTCAAGATATGAA	0.274000													11	211					0	0	0.411799	0	0
CHRNA1	1134	broad.mit.edu	37	2	175614763	175614763	+	Missense_Mutation	SNP	C	C	T	rs137852804		TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:175614763C>T	ENST00000348749.5	-	7	990	c.913G>A	c.(913-915)Gtc>Atc	p.V305I	CHRNA1_ENST00000261007.5_Missense_Mutation_p.V330I|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V223I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V305I|AC018890.6_ENST00000442996.1_RNA	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	330					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GAGGCAATGACGAACACCATG	0.537000													9	139					0	0	0.335167	0	0
SPECC1L	23384	broad.mit.edu	37	22	24717648	24717648	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr22:24717648C>T	ENST00000314328.9	+	5	985	c.700C>T	c.(700-702)Cac>Tac	p.H234Y	SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000437398.1_Missense_Mutation_p.H234Y|KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.H234Y|SPECC1L_ENST00000541492.1_Missense_Mutation_p.H234Y	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	234					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TATTATGGCTCACCAGCCGAC	0.438000													80	169					0	0	0.870114	0	0
AHNAK	79026	broad.mit.edu	37	11	62289982	62289982	+	Silent	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:62289982G>A	ENST00000378024.4	-	5	12181	c.11907C>T	c.(11905-11907)gaC>gaT	p.D3969D	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3969					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAACATCAACGTCCACCTTGG	0.498000													45	553					0	0	0.870114	0	0
CDH20	28316	broad.mit.edu	37	18	59174700	59174700	+	Silent	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr18:59174700G>A	ENST00000262717.4	+	6	1322	c.924G>A	c.(922-924)gaG>gaA	p.E308E	CDH20_ENST00000538374.1_Silent_p.E308E|CDH20_ENST00000536675.2_Silent_p.E308E			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	308	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCAATGCAGAGATGAAATATA	0.433000													13	133					0	0	0.457914	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461210	48461210	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr3:48461210G>C	ENST00000358536.4	-	11	2754	c.2485C>G	c.(2485-2487)Cca>Gca	p.P829A	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P829A|PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000456774.1_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	829	Pro-rich.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGGCCCCTGGGAAAGTGGTG	0.701000													6	12					0	0	0.248553	0	0
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632000			M		GBM								51	71					0	0	0.870114	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713956	142713956	+	RNA	SNP	G	G	A	rs12161184	by1000genomes	TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:142713956G>A	ENST00000369381.2	-	0	649																											AAGTTAAAGAGTAACCTGCAC	0.308000													5	54					0	0	0.278610	0	0
FAM129B	64855	broad.mit.edu	37	9	130270474	130270474	+	Silent	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr9:130270474G>A	ENST00000373312.3	-	12	1653	c.1440C>T	c.(1438-1440)taC>taT	p.Y480Y	FAM129B_ENST00000373314.3_Silent_p.Y467Y|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	480							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGTCGTAGTCGTATTTCTGCA	0.617000													4	71					0	0	0.150653	0	0
GBP5	115362	broad.mit.edu	37	1	89728016	89728016	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:89728016C>T	ENST00000343435.5	-	11	2070	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.E512K	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	512						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ATCATTTGCTCGTTCTGCCTT	0.463000													62	78					0	0	0.870114	0	0
PCSK2	5126	broad.mit.edu	37	20	17434533	17434533	+	Silent	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr20:17434533C>T	ENST00000262545.2	+	9	1347	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	PCSK2_ENST00000536609.1_Silent_p.D309D|PCSK2_ENST00000377899.1_Silent_p.D325D	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	344	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.D344D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCTGTACGACGAGAGCTGCT	0.597000													20	129					0	0	0.654019	0	0
RALYL	138046	broad.mit.edu	37	8	85774590	85774590	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr8:85774590G>A	ENST00000521268.1	+	6	1578	c.473G>A	c.(472-474)cGt>cAt	p.R158H	RALYL_ENST00000518566.1_Missense_Mutation_p.R147H|RALYL_ENST00000521376.1_Missense_Mutation_p.R69H|RALYL_ENST00000517638.1_Missense_Mutation_p.R171H|RALYL_ENST00000523850.1_Missense_Mutation_p.R85H|RALYL_ENST00000521695.1_Missense_Mutation_p.R158H|RALYL_ENST00000522455.1_Missense_Mutation_p.R158H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	158							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCGCTGAAGCGTCCCAGAGTG	0.507000													6	43					0	0	0.248553	0	0
CREB3L1	90993	broad.mit.edu	37	11	46332655	46332655	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:46332655G>A	ENST00000529193.1	+	5	1119	c.668G>A	c.(667-669)cGc>cAc	p.R223H	CREB3L1_ENST00000288400.3_Missense_Mutation_p.R223H			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	223					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CAGAGTCCCCGCTCTCTGCCC	0.687000			T	FUS	myxofibrosarcoma								5	88					0	0	0.184627	0	0
PI4KA	5297	broad.mit.edu	37	22	21115635	21115635	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr22:21115635C>T	ENST00000255882.6	-	23	2834	c.2748G>A	c.(2746-2748)atG>atA	p.M916I	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000572273.1_Missense_Mutation_p.M858I	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	858					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGTAGCAGAACATTACCTGGA	0.368000													11	115					0	0	0.387290	0	0
C2orf71	388939	broad.mit.edu	37	2	29294007	29294007	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:29294007G>A	ENST00000331664.5	-	1	3120	c.3121C>T	c.(3121-3123)Cca>Tca	p.P1041S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1041	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GTGGTGGGTGGGCTTAGCACC	0.687000													38	83					0	0	0.834066	0	0
OSBPL3	26031	broad.mit.edu	37	7	24903215	24903215	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr7:24903215A>G	ENST00000313367.2	-	8	1128	c.677T>C	c.(676-678)cTg>cCg	p.L226P	OSBPL3_ENST00000431825.2_Missense_Mutation_p.L226P|OSBPL3_ENST00000353930.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000352860.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000409069.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000396431.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000396429.1_Missense_Mutation_p.L226P	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	226					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACAGTGCGCCAGGTCTGTGGG	0.532000													7	116					0	0	0.248553	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323264	61323264	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr18:61323264A>C	ENST00000283752.5	-	8	943	c.800T>G	c.(799-801)aTg>aGg	p.M267R	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.M215R	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	267					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGTCCATTCCATCAATTTCTC	0.378000													26	115					0	0	0.706142	0	0
MYO7A	4647	broad.mit.edu	37	11	76922334	76922334	+	Silent	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:76922334G>A	ENST00000409709.3	+	45	6461	c.6189G>A	c.(6187-6189)ctG>ctA	p.L2063L	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Silent_p.L2014L|MYO7A_ENST00000458637.2_Silent_p.L2025L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2063	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGCGGGAGCTGGTGCCCCAGG	0.652000													2	5					0	0	0.115264	0	0
ADRB2	154	broad.mit.edu	37	5	148206922	148206922	+	Silent	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:148206922C>T	ENST00000305988.4	+	1	767	c.528C>T	c.(526-528)gcC>gcT	p.A176A		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	176					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	GGTACCGGGCCACCCACCAGG	0.537000													20	275					0	0	0.575678	0	0
C5orf34	375444	broad.mit.edu	37	5	43506030	43506030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:43506030C>T	ENST00000306862.2	-	4	1127	c.752G>A	c.(751-753)tGg>tAg	p.W251*	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	251										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					AGGATATTTCCATTCCTCTGG	0.408000													22	243					0	0	0.608945	0	0
CATSPER1	117144	broad.mit.edu	37	11	65790440	65790440	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:65790440G>A	ENST00000312106.5	-	2	1446	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	437					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ATCATTTCCCGGAAGCCCTGA	0.557000											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	109					0	0	0.870114	0	0
AC074391.1	0	broad.mit.edu	37	2	65894933	65894933	+	RNA	DEL	A	A	-			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:65894933delA	ENST00000377977.3	+	0	862																											TCAGAGGTTTAAAAAAAAAAA	0.517													3	4	---	---	---	---					
SLC9A9	285195	broad.mit.edu	37	3	143100927	143100932	+	In_Frame_Del	DEL	TTCAGA	TTCAGA	-			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr3:143100927_143100932delTTCAGA	ENST00000316549.6	-	13	1702_1707	c.1494_1499delTCTGAA	c.(1492-1500)aag>aa	p.NLK498del	SLC9A9-AS2_ENST00000490153.1_RNA	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	498					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GGGGTCCTCCTTCAGATTTTCATCCA	0.442													8	538	---	---	---	---					
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aafs	p.K362fs		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478													7	513	---	---	---	---					
NRL	4901	broad.mit.edu	37	14	24551825	24551826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr14:24551825_24551826insG	ENST00000561028.1	-	2	551_552	c.232_233insC	c.(232-234)gcafs	p.A78fs	NRL_ENST00000397002.2_Frame_Shift_Ins_p.A78fs|NRL_ENST00000396997.1_Frame_Shift_Ins_p.A78fs			P54845	NRL_HUMAN	neural retina leucine zipper	78					response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		CTGCTGCTGCAGGGTAGCCAGC	0.663													7	53	---	---	---	---					
CTD-2251F13.1	0	broad.mit.edu	37	14	30677426	30677429	+	RNA	DEL	GGAG	GGAG	-			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr14:30677426_30677429delGGAG	ENST00000508469.2	-	0	69																											TAGCAATAAAggagggagggaggg	0.466													3	6	---	---	---	---					
RP11-433J8.2	0	broad.mit.edu	37	14	97235205	97235205	+	RNA	DEL	T	T	-			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr14:97235205delT	ENST00000556669.1	+	0	188																											tctccctcccttccttcctat	0.537													4	9	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42797299	42797300	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr19:42797299_42797300delTC	ENST00000572681.2	+	16	6450_6451	c.6382_6383delTC	c.(6382-6384)tfs	p.S2128fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.S1219fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.S1221fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGCCCCAGAGTCTGAGCTTGAG	0.718			"""Mis, F, S"""		oligodendroglioma								9	7	---	---	---	---