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
LPHN2	23266	broad.mit.edu	37	1	82409004	82409004	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr1:82409004A>G	uc001dit.4	+	5	930	c.749A>G	c.(748-750)tAc>tGc	p.Y250C	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.Y250C|LPHN2_uc001div.3_Missense_Mutation_p.Y250C|LPHN2_uc009wcd.3_Missense_Mutation_p.Y250C	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	250	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.Y250C(3)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TATGCCAACTACCATGATACC	0.403000													30	130					0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136610460	136610460	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr2:136610460C>T	uc002tuw.3	-	11	1728	c.1652G>A	c.(1651-1653)cGc>cAc	p.R551H		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	551	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding	p.R551H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	ATCTACTATGCGCCTGGCAAT	0.368000													23	112					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38858790	38858790	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr21:38858790G>A	uc002ywk.3	+	4	614	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	DYRK1A_uc002ywh.1_Missense_Mutation_p.V142M|DYRK1A_uc002ywi.3_Missense_Mutation_p.V180M|DYRK1A_uc002ywj.3_Missense_Mutation_p.V171M|DYRK1A_uc002ywm.3_Missense_Mutation_p.V180M|DYRK1A_uc011aei.2_5'Flank	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	180	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.V180M(2)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATATGATCGTGTGGAGCAAGA	0.308000													36	167					0	0	1	0	0
API5	8539	broad.mit.edu	37	11	43345105	43345105	+	Silent	SNP	A	A	C			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:43345105A>C	uc010rfh.1	+	5	842	c.669A>C	c.(667-669)ctA>ctC	p.L223L	API5_uc001mxf.2_Silent_p.L223L|API5_uc010rfg.1_Silent_p.L212L|API5_uc010rfi.1_Silent_p.L169L|API5_uc021qgi.1_Intron|API5_uc001mxg.3_Silent_p.L97L	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	223					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	p.L223L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AGGCCGACCTAGAACAGACCT	0.463000													34	158					0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100206634	100206634	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr13:100206634C>T	uc001voj.1	+	13	1698	c.1565C>T	c.(1564-1566)cCt>cTt	p.P522L	TM9SF2_uc010afz.1_Missense_Mutation_p.P357L	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	522					transport	endosome membrane|integral to plasma membrane		p.P522L(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AAGCCCTTGCCTGGTATTATC	0.418000													43	154					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70349258	70349258	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:70349258C>T	uc004dyy.3	+	25	3869	c.3670C>T	c.(3670-3672)Ctc>Ttc	p.L1224F	MED12_uc011mpq.1_Missense_Mutation_p.L1224F|MED12_uc004dyz.3_Missense_Mutation_p.L1224F|MED12_uc004dza.3_Missense_Mutation_p.L1071F|MED12_uc010nla.3_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1224					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1224F(15)|p.V1223>?(3)|p.L1224V(3)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTTGCTGTTCTCAAGGCTGT	0.562000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	34					0	0	1	0	0
ADRA2A	150	broad.mit.edu	37	10	112838922	112838922	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:112838922G>T	uc001kzo.3	+	0	2133	c.1168G>T	c.(1168-1170)Gtg>Ttg	p.V390L		NM_000681	NP_000672	P08913	ADA2A_HUMAN	Homo sapiens adrenergic, alpha-2A-, receptor (ADRA2A), mRNA.	375					Rho protein signal transduction|actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	p.F390fs*>62(1)|p.V375L(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CTTCACGTTCGTGCTGGCCGT	0.697000													20	51					0	0	1	0	0
CCDC7	221016	broad.mit.edu	37	10	32856779	32856779	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:32856779G>T	uc001iwj.3	+	15	1949	c.1379G>T	c.(1378-1380)gGt>gTt	p.G460V	CCDC7_uc001iwk.3_Missense_Mutation_p.G460V|CCDC7_uc009xlv.3_Non-coding_Transcript|C10orf68_uc001iwl.1_5'UTR|C10orf68_uc001iwm.1_5'UTR|C10orf68_uc001iwn.4_5'UTR	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	Homo sapiens coiled-coil domain containing 7 (CCDC7), transcript variant 1, mRNA.	460								p.G460V(2)|p.G460S(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TCAGATTCAGGTGGACAAAGG	0.328000													9	89					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64554181	64554181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr3:64554181G>A	uc003dmg.3	-	28	4419	c.4387C>T	c.(4387-4389)Caa>Taa	p.Q1463*	ADAMTS9_uc011bfo.2_Nonsense_Mutation_p.Q1435*|ADAMTS9_uc003dmh.1_Nonsense_Mutation_p.Q1292*|ADAMTS9_uc011bfp.1_Nonsense_Mutation_p.Q374*|AK125532_uc003dmi.1_Intron	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1463	TSP type-1 11.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q1463*(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACATTTCGTTGTTTATGCCCT	0.428000													32	153					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53238473	53238473	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:53238473G>A	uc001sbc.1	-	4	855	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	264	Linker 12.|Rod.					keratin filament	protein binding|structural molecule activity	p.T264M(3)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CACCACAGACGTGTCGCTGGC	0.622000													15	77					0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959282	117959282	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:117959282G>A	uc004equ.3	+	3	548	c.75G>A	c.(73-75)atG>atA	p.M25I	ZCCHC12_uc022cdh.1_Missense_Mutation_p.M25I	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.M25I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						CCCATTCCATGCTGAGGTCCC	0.572000													25	46					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777766	43777766	+	Silent	SNP	A	A	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:43777766A>G	uc010skx.2	-	29	4467	c.4467T>C	c.(4465-4467)tgT>tgC	p.C1489C		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1489	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding	p.S1489S(2)|p.C1489C(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTCCAGAGCCACAGGTCACAG	0.413000													4	56					0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63898514	63898514	+	Silent	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr3:63898514G>A	uc003dlv.3	+	2	793	c.240G>A	c.(238-240)gaG>gaA	p.E80E	ATXN7_uc003dlw.4_Silent_p.E80E|ATXN7_uc021wzy.1_Silent_p.E80E|ATXN7_uc010hnu.1_Non-coding_Transcript	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	80					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	p.E80E(3)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CGGTCGGGGAGCGCAGGCCTC	0.711000													6	29					0	0	1	0	0
LINC00518	221718	broad.mit.edu	37	6	10430010	10430010	+	RNA	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr6:10430010G>A	uc003myz.2	-	2		c.1026C>T								Homo sapiens long intergenic non-protein coding RNA 518 (LINC00518), non-coding RNA.																		GTAGAGGCTAGAACTGGAATT	0.368000											OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	18					0	0	1	0	0
TRDMT1	1787	broad.mit.edu	37	10	17204221	17204221	+	Silent	SNP	A	A	C			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:17204221A>C	uc001iop.3	-	3	704	c.267T>G	c.(265-267)ggT>ggG	p.G89G	TRDMT1_uc001ios.3_Silent_p.G18G|TRDMT1_uc009xjt.3_Silent_p.G30G|TRDMT1_uc010qcc.1_Silent_p.G18G|TRDMT1_uc010qcd.2_Intron|TRDMT1_uc021pnn.1_Intron|TRDMT1_uc009xjs.1_Intron|TRDMT1_uc021pno.1_Intron|TRDMT1_uc009xju.1_Intron	NM_004412	NP_004403	O14717	TRDMT_HUMAN	Homo sapiens tRNA aspartic acid methyltransferase 1 (TRDMT1), mRNA.	89					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	p.G89G(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						CAGTCATATCACCCTGCCGGC	0.318000													14	150					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr22:22664606A>G	uc021wml.1	+	32		c.2706A>G			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GTCTTCATGCAAACTTGGTAT	0.398000													3	33					0	0	1	0	0
CCDC7	221016	broad.mit.edu	37	10	32856778	32856778	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:32856778G>A	uc001iwj.3	+	15	1948	c.1378G>A	c.(1378-1380)Ggt>Agt	p.G460S	CCDC7_uc001iwk.3_Missense_Mutation_p.G460S|CCDC7_uc009xlv.3_Non-coding_Transcript|C10orf68_uc001iwl.1_5'UTR|C10orf68_uc001iwm.1_5'UTR|C10orf68_uc001iwn.4_5'UTR	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	Homo sapiens coiled-coil domain containing 7 (CCDC7), transcript variant 1, mRNA.	460								p.G460S(2)|p.G460V(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TTCAGATTCAGGTGGACAAAG	0.328000													9	89					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120150460	120150460	+	Silent	SNP	G	G	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:120150460G>T	uc001txj.2	-	35	4676	c.4620C>A	c.(4618-4620)ccC>ccA	p.P1540P	CIT_uc001txh.2_Silent_p.P1017P|CIT_uc001txi.2_Silent_p.P1498P	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1498	PH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.P1526P(1)|p.P1498P(1)|p.S1539S(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CATCCCCGTCGGGAAGGCACA	0.547000													4	113					0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6716186	6716186	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr17:6716186C>G	uc002gdt.3	-	5	926	c.816G>C	c.(814-816)aaG>aaC	p.K272N	TEKT1_uc010vth.2_Missense_Mutation_p.K126N	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	272					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.K272N(2)|p.T271A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CCCTGGCATCCTTTGTATCCT	0.527000													32	158					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33138676	33138676	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr6:33138676C>T	uc003ocx.1	-	45	3613	c.3385G>A	c.(3385-3387)Gga>Aga	p.G1129R	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1043R|COL11A2_uc003ocz.1_Missense_Mutation_p.G1022R	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1129	Triple-helical region.			EPGARGP -> GAGGLGT (in Ref. 6; AAA52034).	cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.G1129R(2)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCCGAGCTCCGGGCTCCCCA	0.577000													8	141					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70319095	70319095	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:70319095T>C	uc001oqc.3	-	21	5343	c.5231A>G	c.(5230-5232)aAt>aGt	p.N1744S	SHANK2_uc010rqn.2_Missense_Mutation_p.N1220S|SHANK2_uc001opz.3_Missense_Mutation_p.N1215S|BC127192_uc009ysn.1_5'UTR|SHANK2_uc001opy.3_Missense_Mutation_p.N146S|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1431					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	p.N1811S(1)|p.N1215S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATCGATCTCATTGTCCATGAA	0.478000													55	245					0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104915235	104915235	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:104915235T>G	uc001pip.1	-	1	185	c.158A>C	c.(157-159)aAg>aCg	p.K53T	CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc001pio.1_Missense_Mutation_p.K53T	NM_001017534	NP_001017534	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 16 (CARD16), transcript variant 1, mRNA.	53	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.K53T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AGCTCGGGTCTTATCCATAAC	0.428000													96	447					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39357242	39357242	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr13:39357242G>A	uc001uwv.3	+	4	5986	c.5677G>A	c.(5677-5679)Gtt>Att	p.V1893I	FREM2_uc001uww.3_5'UTR	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1893	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1893I(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAAATACTCCGTTGAAGAAGA	0.438000													58	205					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027785	37027785	+	Silent	SNP	C	C	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:37027785C>T	uc004ddl.2	+	0	1354	c.1302C>T	c.(1300-1302)cgC>cgT	p.R434R		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	434								p.R434R(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGACTCGCGGATCTCATC	0.617000													28	33					0	0	1	0	0
NEK7	140609	broad.mit.edu	37	1	198233329	198233329	+	Silent	SNP	A	A	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr1:198233329A>G	uc001gun.4	+	4	663	c.336A>G	c.(334-336)gaA>gaG	p.E112E	NEK7_uc021pgx.1_Silent_p.E112E	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA.	112	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E112E(2)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TAGTTTTGGAACTAGCAGATG	0.299000													25	201					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5979235	5979235	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:5979235G>A	uc001iit.3	+	21	3381	c.3277G>A	c.(3277-3279)Gtc>Atc	p.V1093I	FBXO18_uc001iir.3_Missense_Mutation_p.V985I|FBXO18_uc001iis.3_Missense_Mutation_p.V1042I|FBXO18_uc009xig.3_Missense_Mutation_p.V968I	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	1042					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.V1093I(4)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCTCTTCCTCGTCTTCTGAGG	0.657000													3	22					0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104239189	104239189	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr9:104239189G>T	uc004bbm.3	-	1	508	c.186C>A	c.(184-186)agC>agA	p.S62R	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Missense_Mutation_p.S62R	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	62						integral to membrane		p.S62R(2)									GGAACTCTTGGCTCATTTGGT	0.547000													30	91					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109779876	109779876	+	Silent	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr13:109779876G>A	uc010agk.2	+	30	4651	c.4029G>A	c.(4027-4029)gcG>gcA	p.A1343A	MYO16_uc001vqt.1_Silent_p.A1321A|MYO16_uc010tjh.1_Silent_p.A833A	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1321					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity	p.A1321A(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCCTCTCCGCGGCCAGGGAAG	0.687000													3	23					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26428149	26428149	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr6:26428149A>G	uc011dkl.1	+	3	787	c.757A>G	c.(757-759)Atg>Gtg	p.M253V	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.									p.M253V(1)									GCCTGTTATCATGATTATTCT	0.428000													67	236					0	0	1	0	0
RPLP0	6175	broad.mit.edu	37	12	120635152	120635152	+	Silent	SNP	C	C	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:120635152C>T	uc001txp.3	-	6	1002	c.765G>A	c.(763-765)acG>acA	p.T255T	GCN1L1_uc001txo.3_5'Flank|RPLP0_uc001txr.3_Silent_p.T193T|RPLP0_uc001txq.3_Silent_p.T255T	NM_053275	NP_444505	P05388	RLA0_HUMAN	Homo sapiens ribosomal protein, large, P0 (RPLP0), transcript variant 2, mRNA.	255					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	RNA binding|protein binding|structural constituent of ribosome	p.T255T(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGTGTAATCCGTCTCCACAG	0.507000													17	79					0	0	1	0	0
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	GGCGGCGGC	GGCGGCGGC	rs3833707	by1000genomes	TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr9:12775861_12775862insGGCGGCGGC	uc003zkw.3	+	0	850_851	c.147_148insGGCGGCGGC	c.(145-150)insGGCGGCGGC	p.55_56insGGG		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	Homo sapiens chromosome 9 open reading frame 150 (C9orf150), mRNA.	58	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													3	4	---	---	---	---					
PTPRB	5787	broad.mit.edu	37	12	71003062	71003063	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:71003062_71003063insG	uc001swb.4	-	1	141_142	c.111_112insC	c.(109-114)tccagcfs	p.S37fs	PTPRB_uc010sto.2_Frame_Shift_Ins_p.S37fs|PTPRB_uc010stp.2_Frame_Shift_Ins_p.S37fs|PTPRB_uc001swc.4_Frame_Shift_Ins_p.S255fs|PTPRB_uc001swa.4_Frame_Shift_Ins_p.S255fs|PTPRB_uc001swd.4_Frame_Shift_Ins_p.S254fs|PTPRB_uc009zrr.2_Frame_Shift_Ins_p.S134fs|PTPRB_uc001swe.3_Frame_Shift_Ins_p.S255fs	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	37	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACAGAATGGCTGGAGGCCTTGG	0.535													7	150	---	---	---	---					
GNPNAT1	64841	broad.mit.edu	37	14	53245162	53245163	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr14:53245162_53245163delAG	uc001xab.3	-	5	676_677	c.421_422delCT	c.(421-423)cttfs	p.L141fs		NM_198066	NP_932332	Q96EK6	GNA1_HUMAN	Homo sapiens glucosamine-phosphate N-acetyltransferase 1 (GNPNAT1), mRNA.	141	N-acetyltransferase.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|cytosol|endosome membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TAGCAAAGTAAGGGTTGATAAT	0.292													24	130	---	---	---	---					
