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
RIF1	55183	broad.mit.edu	37	2	152311623	152311623	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:152311623A>C	ENST00000243326.5	+	21	3042	c.2559A>C	c.(2557-2559)aaA>aaC	p.K853N	RIF1_ENST00000444746.2_Missense_Mutation_p.K853N|RIF1_ENST00000453091.2_Missense_Mutation_p.K853N|RIF1_ENST00000428287.2_Missense_Mutation_p.K853N|RIF1_ENST00000430328.2_Missense_Mutation_p.K853N			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						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)		TGATCCGAAAAATATTTGCAA	0.333000													51	57					0	0	1	0	0
HMGB2	3148	broad.mit.edu	37	4	174254742	174254742	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr4:174254742A>C	ENST00000296503.5	-	2	932	c.59T>G	c.(58-60)gTg>gGg	p.V20G	HMGB2_ENST00000438704.2_Missense_Mutation_p.V20G|HMGB2_ENST00000446922.2_Missense_Mutation_p.V20G			P26583	HMGB2_HUMAN	high mobility group box 2	20					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GCAGGTCTGCACGAAGAAGGC	0.577000													6	80					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64595069	64595069	+	Silent	SNP	A	A	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr11:64595069A>G	ENST00000342711.5	-	32	4079	c.4080T>C	c.(4078-4080)aaT>aaC	p.N1360N		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1360	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AGCCCTCTGGATTGAGGGGCC	0.677000													5	8					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196756529	196756529	+	Splice_Site	SNP	C	C	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:196756529C>A	ENST00000312428.6	-	31	4997		c.e31-1			NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCATTAGCCCCTTAATGAAAA	0.313000													4	26					0.00909568	0.00909568	1	1	0
FANCI	55215	broad.mit.edu	37	15	89837157	89837157	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr15:89837157A>C	ENST00000310775.7	+	23	2471	c.2385A>C	c.(2383-2385)aaA>aaC	p.K795N	FANCI_ENST00000300027.8_Missense_Mutation_p.K795N	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	795					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCAAAACTAAAATGGCCAACA	0.363000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				30	68					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373000													4	155					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579885	44579885	+	Silent	SNP	G	G	A	rs143153721		TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr7:44579885G>A	ENST00000289547.4	-	2	166	c.111C>T	c.(109-111)gaC>gaT	p.D37D	NPC1L1_ENST00000423141.1_Silent_p.D37D|NPC1L1_ENST00000381160.3_Silent_p.D37D|NPC1L1_ENST00000546276.1_Silent_p.D37D	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	37					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCCCACATTCGTCATAGAAGG	0.592000													18	44					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83126517	83126517	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:83126517A>G	ENST00000329312.4	+	3	153	c.116A>G	c.(115-117)aAa>aGa	p.K39R		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	39					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACATTTCCCAAACCACTCCAG	0.303000													24	41					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67264350	67264350	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr16:67264350A>C	ENST00000258201.4	-	19	3165	c.2918T>G	c.(2917-2919)aTc>aGc	p.I973S		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	973	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GAACTGCATGATGCGCACTTC	0.592000													23	49					0	0	1	0	0
VSIG4	11326	broad.mit.edu	37	X	65247907	65247907	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:65247907T>C	ENST00000455586.2	-	4	868	c.742A>G	c.(742-744)Aca>Gca	p.T248A	VSIG4_ENST00000412866.2_Missense_Mutation_p.T154A|VSIG4_ENST00000374737.4_Missense_Mutation_p.T248A	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	248					complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGGGGTATGTCATGGTTGTA	0.458000													26	54					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31309175	31309175	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr16:31309175C>T	ENST00000544665.3	+	14	1681	c.1610C>T	c.(1609-1611)aCg>aTg	p.T537M	ITGAM_ENST00000287497.8_Missense_Mutation_p.T536M	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	536					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GACAAGCTGACGGACGTGGCC	0.622000													26	50					0	0	1	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													3	58					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070768	141070768	+	RNA	SNP	C	C	T	rs4609262	by1000genomes	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr9:141070768C>T	ENST00000503395.1	+	0	1543																											GCTGTGACTGCCTGCAGGGTT	0.617000													6	17					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2933251	2933251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:2933251G>A	ENST00000381130.2	+	4	581	c.581G>A	c.(580-582)tGg>tAg	p.W194*		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	194						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCAGTGCCATGGAAGGTCATC	0.498000													11	19					0	0	1	0	0
ZIC3	7547	broad.mit.edu	37	X	136649636	136649636	+	Silent	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:136649636C>T	ENST00000287538.5	+	1	1336	c.786C>T	c.(784-786)agC>agT	p.S262S	ZIC3_ENST00000370606.3_Silent_p.S262S	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	262					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CTCAGCTGAGCCGGCCCAAGA	0.632000													39	44					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433400	179433400	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:179433400G>A	ENST00000589042.1	-	326	77683	c.77459C>T	c.(77458-77460)cCa>cTa	p.P25820L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16947L|TTN_ENST00000591111.1_Missense_Mutation_p.P24179L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16880L|TTN_ENST00000460472.2_Missense_Mutation_p.P16755L|TTN_ENST00000342992.6_Missense_Mutation_p.P23252L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24179	Fibronectin type-III 87.						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)			TCCAGAAATTGGCACTTCTAT	0.433000													32	51					0	0	1	0	0
YIPF6	286451	broad.mit.edu	37	X	67751800	67751800	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:67751800T>A	ENST00000462683.1	+	7	1414	c.670T>A	c.(670-672)Ttt>Att	p.F224I	YIPF6_ENST00000374622.2_Missense_Mutation_p.F181I	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	224						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CCTGTTTTACTTTGTCATCAG	0.403000													6	15					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161026077	161026077	+	Splice_Site	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr6:161026077C>T	ENST00000447678.1	-	19	3066		c.e19+1		LPA_ENST00000316300.5_Splice_Site	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)						blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.?(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AATAGACATACGCATTTGGGT	0.443000													5	421					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373000													3	32					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85961671	85961671	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr10:85961671G>A	ENST00000372117.3	+	7	737	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	CDHR1_ENST00000440770.2_5'UTR|CDHR1_ENST00000332904.3_Missense_Mutation_p.A212T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	212	Cadherin 2.		A -> T.		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						CACCGTGGTCGCCAAGGTAAC	0.617000													8	15					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4542424	4542424	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr17:4542424C>T	ENST00000570836.1	-	4	437	c.341G>A	c.(340-342)cGc>cAc	p.R114H	ALOX15_ENST00000293761.3_Missense_Mutation_p.R114H|ALOX15_ENST00000574640.1_Missense_Mutation_p.R75H|ALOX15_ENST00000545513.1_Missense_Mutation_p.R136H			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	114	PLAT.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.R114H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GCCCACAGTGCGGCCTAGAAG	0.607000													4	172					0	0	1	0	0
CSTF3	1479	broad.mit.edu	37	11	33108639	33108639	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr11:33108639C>A	ENST00000323959.4	-	18	1829	c.1690G>T	c.(1690-1692)Gct>Tct	p.A564S	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	564	Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATAGAAGGAGCTACAACTGGG	0.433000													105	155					5.62818e-54	6.06961e-54	1	1	0
MYLK3	91807	broad.mit.edu	37	16	46762982	46762982	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr16:46762982A>C	ENST00000394809.4	-	7	1841	c.1726T>G	c.(1726-1728)Tat>Gat	p.Y576D	MYLK3_ENST00000536476.1_Missense_Mutation_p.Y235D	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	576	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AAGGCGTCATAGAGCTGGATC	0.577000													32	88					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								26	34					0	0	1	0	0
FUCA2	2519	broad.mit.edu	37	6	143818529	143818529	+	Silent	SNP	T	T	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr6:143818529T>G	ENST00000002165.6	-	6	1315	c.1260A>C	c.(1258-1260)acA>acC	p.T420T	RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma						fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CTCTTACCTCTGTTGCCCCCA	0.388000													19	22					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415667	57415667	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr20:57415667G>A	ENST00000313949.7	+	1	895	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.R169Q|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.R169Q			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTCAAGTTGCGAAGCCCCGAC	0.682000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			15	12					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101720955	101720955	+	Silent	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr12:101720955C>T	ENST00000261637.4	+	26	3312	c.3138C>T	c.(3136-3138)gcC>gcT	p.A1046A		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1046					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						GGTTCCTGGCCGGGACCCAAC	0.478000													39	78					0	0	1	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54676979	54676979	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr12:54676979T>G	ENST00000340913.6	+	8	921	c.868T>G	c.(868-870)Tat>Gat	p.Y290D	HNRNPA1_ENST00000546500.1_Intron|HNRNPA1_ENST00000547276.1_Intron|HNRNPA1_ENST00000330752.8_Intron|RP11-968A15.8_ENST00000553061.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	290	Gly-rich.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CTATGACAGCTATAACAACGG	0.552000													6	12					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31241162	31241162	+	Splice_Site	SNP	A	A	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:31241162A>T	ENST00000357033.4	-	64	9568		c.e64+1		DMD_ENST00000361471.4_Splice_Site|DMD_ENST00000378677.2_Splice_Site|DMD_ENST00000378680.2_Splice_Site|DMD_ENST00000343523.2_Splice_Site|DMD_ENST00000541735.1_Splice_Site|DMD_ENST00000474231.1_Splice_Site|DMD_ENST00000378702.4_Splice_Site|DMD_ENST00000359836.1_Splice_Site|DMD_ENST00000378707.3_Splice_Site|DMD_ENST00000378723.3_Splice_Site	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCCAATACTTACAGCAAAGGG	0.408000													41	57					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29684326	29684326	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr17:29684326C>T	ENST00000358273.4	+	54	8292	c.7909C>T	c.(7909-7911)Cga>Tga	p.R2637*	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Nonsense_Mutation_p.R430*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R2616*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2637					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.R2637*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTGATCAACGAATTCTTTA	0.368000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			34	76					0	0	1	0	0
CDC73	79577	broad.mit.edu	37	1	193111044	193111044	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr1:193111044A>G	ENST00000367435.3	+	7	761	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	193					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TATGGCTAAGAAAAGATCTAC	0.373000													26	21					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34776386	34776386	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr20:34776386A>T	ENST00000338074.2	+	9	1152	c.991A>T	c.(991-993)Agg>Tgg	p.R331W	EPB41L1_ENST00000373946.3_Missense_Mutation_p.R300W|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R331W|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R269W|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R234W|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R269W	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	331	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTCCTACAAGAGGAGTAACTT	0.537000													15	30					0	0	1	0	0
DNASE1L1	1774	broad.mit.edu	37	X	153631307	153631307	+	Silent	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:153631307C>T	ENST00000369809.1	-	9	1379	c.750G>A	c.(748-750)acG>acA	p.T250T	DNASE1L1_ENST00000393638.1_Silent_p.T250T	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	250					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGGAAGCTCGTGGGGAAGT	0.682000													29	31					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70607290	70607290	+	Silent	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:70607290G>A	ENST00000449580.1	+	15	2454	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	TAF1_ENST00000276072.3_Silent_p.T822T|TAF1_ENST00000373790.4_Silent_p.T801T|TAF1_ENST00000423759.1_Silent_p.T822T			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	801					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.T801T(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGGCCAATACGCATATTCGAG	0.493000													31	56					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47451444	47451444	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr3:47451444G>A	ENST00000265562.4	+	20	2233	c.2156G>A	c.(2155-2157)cGg>cAg	p.R719Q	PTPN23_ENST00000431726.1_Missense_Mutation_p.R593Q	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	719	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGCCGCCACGGCCCACAGCC	0.677000													6	9					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147092733	147092733	+	Silent	SNP	A	A	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr1:147092733A>G	ENST00000234739.3	+	8	3512	c.2772A>G	c.(2770-2772)ccA>ccG	p.P924P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	924	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TCAAGTCTCCATCACTTCCTG	0.592000			T	"""IGH@, IGL@"""	B-ALL								30	66					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716809	142716809	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:142716809C>T	ENST00000381779.4	-	2	2341	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E706K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E706K	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	706						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AACCCAGTTTCTGACTCTTTC	0.408000													74	113					0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826400	13826400	+	Silent	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr18:13826400G>A	ENST00000324750.3	+	1	858	c.636G>A	c.(634-636)gcG>gcA	p.A212A		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	212					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCCTCCTGGCGCGGACTCACG	0.612000													9	593					0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46307553	46307553	+	Missense_Mutation	SNP	G	G	A	rs139319342	by1000genomes	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr3:46307553G>A	ENST00000357422.2	+	4	1447	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	CCR3_ENST00000395940.2_Missense_Mutation_p.A302T|CCR3_ENST00000395942.2_Missense_Mutation_p.A302T|CCR3_ENST00000541018.1_Missense_Mutation_p.A302T|CCR3_ENST00000545097.1_Missense_Mutation_p.A323T			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	302					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GGTGATCTACGCCTTTGTTGG	0.537000													18	29					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110884424	110884424	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr1:110884424T>G	ENST00000369784.3	+	1	3297	c.2397T>G	c.(2395-2397)ttT>ttG	p.F799L	RBM15_ENST00000487146.2_Missense_Mutation_p.F799L|RBM15_ENST00000602849.1_Missense_Mutation_p.F799L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	799	SPOC.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACAGCAACTTTCCTTCCAACA	0.547000			T	MKL1	acute megakaryocytic leukemia								4	42					0	0	1	0	0
ARSD	414	broad.mit.edu	37	X	2827921	2827921	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:2827921G>A	ENST00000381154.1	-	8	1310	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	412						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCAGGCTCGTGGGCTCTCC	0.642000													18	33					0	0	1	0	0
CA1	759	broad.mit.edu	37	8	86249204	86249204	+	Silent	SNP	A	A	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr8:86249204A>G	ENST00000523953.1	-	5	1370	c.324T>C	c.(322-324)caT>caC	p.H108H	CA1_ENST00000518341.1_5'UTR|CA1_ENST00000432364.2_Silent_p.H108H|CA1_ENST00000256119.5_Silent_p.H108H|CA1_ENST00000431316.1_Silent_p.H108H|CA1_ENST00000522389.1_Intron|CA1_ENST00000523022.1_Silent_p.H108H|CA1_ENST00000542576.1_Silent_p.H108H			P00915	CAH1_HUMAN	carbonic anhydrase I	108					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	CATCCACTGTATGTTCTGAAC	0.433000													4	73					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47222318	47222318	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:47222318C>A	ENST00000319190.5	+	8	1413	c.1045C>A	c.(1045-1047)Ctc>Atc	p.L349I	TTC7A_ENST00000409245.1_Missense_Mutation_p.L315I|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.L349I|TTC7A_ENST00000263737.6_5'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	349							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCTCCTGCTCCTCCTCATCAG	0.607000													3	27					0.00024832	0.000252919	1	1	0
VSNL1	7447	broad.mit.edu	37	2	17836522	17836522	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:17836522C>T	ENST00000406397.1	+	4	962	c.437C>T	c.(436-438)aCg>aTg	p.T146M	VSNL1_ENST00000295156.4_Missense_Mutation_p.T146M|VSNL1_ENST00000404666.2_Missense_Mutation_p.T146M			P62760	VISL1_HUMAN	visinin-like 1	146	EF-hand 4.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GATGGCCTGACGCCTGAGCAG	0.428000													36	49					0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119941085	119941085	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr8:119941085T>A	ENST00000297350.4	-	3	862	c.484A>T	c.(484-486)Aaa>Taa	p.K162*		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	162					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TTTGTGTGTTTTCTACAGGGT	0.413000													61	96					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776169	38776169	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr4:38776169G>A	ENST00000308973.4	-	4	1648	c.1043C>T	c.(1042-1044)aCg>aTg	p.T348M	TLR10_ENST00000508334.1_Missense_Mutation_p.T348M|TLR10_ENST00000361424.2_Missense_Mutation_p.T348M|TLR10_ENST00000506111.1_Missense_Mutation_p.T348M	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	348					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTGGAATTTCGTAGGATAATT	0.333000													37	66					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78429794	78429795	+	Frame_Shift_Ins	INS	-	-	TCGG			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr1:78429794_78429795insTCGG	ENST00000370767.1	-	12	1080_1081	c.993_994insCCGA	c.(991-996)cgatgtfs	p.C332fs	FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.C332fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.C353fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	332	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCATGTTGACATCGGTCTGGAG	0.322			"""F, N"""		oligodendroglioma								92	73	---	---	---	---					
FLNC	2318	broad.mit.edu	37	7	128482744	128482745	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr7:128482744_128482745insG	ENST00000325888.8	+	15	2642_2643	c.2381_2382insG	c.(2380-2385)gcggggfs	p.AG794fs	FLNC_ENST00000346177.6_Frame_Shift_Ins_p.AG794fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	794					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGCAGCGAGGCGGGGCAAGGTG	0.688													2	4	---	---	---	---					
NUTM2F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)tctdel	p.S691del	NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1			NUT family member 2F									p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611													3	4	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			9	28	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	Splice_Site	INS	-	-	G	rs141646579	by1000genomes	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													5	6	---	---	---	---					
RFX4	5992	broad.mit.edu	37	12	107080822	107080823	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr12:107080822_107080823insA	ENST00000392842.1	+	6	952_953	c.538_539insA	c.(538-540)gaafs	p.E180fs	RFX4_ENST00000229387.5_Frame_Shift_Ins_p.E86fs|RFX4_ENST00000357881.4_Frame_Shift_Ins_p.E189fs|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	180					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ACTGCTGCCAGAATTTCCCAAT	0.500													85	146	---	---	---	---					
PCCA	5095	broad.mit.edu	37	13	100992463	100992465	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr13:100992463_100992465delATT	ENST00000376285.1	+	18	1631_1633	c.1593_1595delATT	c.(1591-1596)tcattg>tcg	p.L532del	PCCA_ENST00000376279.3_In_Frame_Del_p.L532del|PCCA_ENST00000376286.4_In_Frame_Del_p.L506del	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	532			Missing (in PA-1).		fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TAGCATCATCATTGTTTGTGGCA	0.330													37	61	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320135	90320146	+	In_Frame_Del	DEL	GGGCAGGGGCAG	GGGCAGGGGCAG	-	rs56192595	by1000genomes	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr15:90320135_90320146delGGGCAGGGGCAG	ENST00000341735.3	+	1	547_558	c.547_558delGGGCAGGGGCAG	c.(547-558)gggcaggggcagdel	p.GQGQ199del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	199	13 X 2 AA tandem repeats of G-Q.				Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			gcaggggcaagggcaggggcaggggcaggggc	0.783													4	6	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42791479	42791480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr19:42791479_42791480insC	ENST00000572681.2	+	5	3255_3256	c.3187_3188insC	c.(3187-3189)tccfs	p.S1063fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.S154fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.S154fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	154	Pro-rich.				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)				CAGCTTCCTCTCCATCATGTCT	0.609			"""Mis, F, S"""		oligodendroglioma								21	20	---	---	---	---					
GLTSCR1	29998	broad.mit.edu	37	19	48204938	48204938	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr19:48204938delG	ENST00000396720.3	+	15	4143	c.3949delG	c.(3949-3951)gggfs	p.G1317fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1317							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCAGGAAGCCGGGCTCAGCAA	0.721													2	4	---	---	---	---					
