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
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000													3	37					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26854435	26854435	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr22:26854435C>T	ENST00000398145.2	-	12	2438	c.1822G>A	c.(1822-1824)Gac>Aac	p.D608N	HPS4_ENST00000398141.1_Missense_Mutation_p.D621N|HPS4_ENST00000402105.3_Missense_Mutation_p.D603N|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000336873.5_Missense_Mutation_p.D608N	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	608					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TGAATGCGGTCGTAATGTGTG	0.577000									Hermansky-Pudlak syndrome				4	43					0	0	1	0	0
MIR514A1	0	broad.mit.edu	37	X	146360769	146360769	+	RNA	SNP	C	C	A	rs147928636	by1000genomes	TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chrX:146360769C>A	ENST00000385133.1	-	0	93					NR_030238.1																						GTCTGTCGTACGTGTCATGCG	0.408000													3	40					0.004672	0.004672	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196398825	196398825	+	Missense_Mutation	SNP	T	T	C			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr1:196398825T>C	ENST00000367433.5	-	9	802	c.701A>G	c.(700-702)tAt>tGt	p.Y234C	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.Y234C|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.Y234C			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	234						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AATGCAGAAATAAAGGGAGTC	0.388000													11	12					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47548102	47548102	+	Missense_Mutation	SNP	C	C	A			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr1:47548102C>A	ENST00000334194.3	+	4	464	c.461C>A	c.(460-462)aCc>aAc	p.T154N		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	154						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ATATTCATCACCATGATGTCT	0.483000													3	20					0.00024832	0.000260145	1	1	0
RSBN1L	222194	broad.mit.edu	37	7	77326163	77326163	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr7:77326163G>A	ENST00000334955.7	+	1	404	c.377G>A	c.(376-378)cGc>cAc	p.R126H		NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	126						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCGGTGCCGCGCAAACTGCTG	0.677000													3	27					0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39884515	39884515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr17:39884515G>A	ENST00000393939.2	-	7	1147	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*	HAP1_ENST00000341193.5_Nonsense_Mutation_p.Q388*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Nonsense_Mutation_p.Q380*|HAP1_ENST00000310778.5_Nonsense_Mutation_p.Q380*			P54257	HAP1_HUMAN	huntingtin-associated protein 1	380	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCCTGCTGCTGCCGTTCATAG	0.657000													4	42					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61619703	61619703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr17:61619703C>T	ENST00000583023.1	+	9	2067	c.2056C>T	c.(2056-2058)Cag>Tag	p.Q686*	KCNH6_ENST00000456941.2_Nonsense_Mutation_p.Q633*|KCNH6_ENST00000581784.1_Nonsense_Mutation_p.Q633*|KCNH6_ENST00000314672.5_Nonsense_Mutation_p.Q686*	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	686					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCACAAGATCCAGCGGGCAGA	0.592000													16	23					0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61110893	61110893	+	Silent	SNP	C	C	A			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr11:61110893C>A	ENST00000394900.3	+	11	1174	c.945C>A	c.(943-945)acC>acA	p.T315T		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	315	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TTTCTCTCACCCTCCTGCTGG	0.592000													5	54					1.06961e-07	1.17657e-07	1	1	0
PSG5	5673	broad.mit.edu	37	19	43690622	43690622	+	Translation_Start_Site	SNP	C	C	T	rs138160369	by1000genomes	TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr19:43690622C>T	ENST00000404580.1	-	0	24				PSG5_ENST00000599812.1_De_novo_Start_OutOfFrame|PSG5_ENST00000407568.1_De_novo_Start_OutOfFrame|PSG5_ENST00000407356.1_De_novo_Start_OutOfFrame|PSG5_ENST00000366175.3_De_novo_Start_OutOfFrame|PSG5_ENST00000342951.6_De_novo_Start_OutOfFrame|PSG5_ENST00000401992.1_5'UTR			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5						female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTCCTGAGCACGGCTGTAGGC	0.627000													7	35					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													3	64					0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132099470	132099470	+	Silent	SNP	G	G	C			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr5:132099470G>C	ENST00000296873.7	-	4	745	c.462C>G	c.(460-462)ctC>ctG	p.L154L	SEPT8_ENST00000378701.1_Silent_p.L152L|SEPT8_ENST00000448933.1_Silent_p.L94L|SEPT8_ENST00000378699.2_Silent_p.L94L|SEPT8_ENST00000378706.1_Silent_p.L154L|SEPT8_ENST00000378719.2_Silent_p.L154L|SEPT8_ENST00000378721.4_Silent_p.L152L|SEPT8_ENST00000458488.2_Silent_p.L154L	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	154					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGATGAAGTAGAGGCAAACGT	0.512000													7	137					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	10					0	0	1	0	0
MIR514A1	0	broad.mit.edu	37	X	146360813	146360813	+	RNA	SNP	A	A	G	rs148964961	by1000genomes	TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chrX:146360813A>G	ENST00000385133.1	-	0	49					NR_030238.1																						ATCAAATTTAATTATACATGA	0.433000													4	54					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													4	59					0	0	1	0	0
IGHA2	0	broad.mit.edu	37	14	106054030	106054030	+	RNA	SNP	C	C	G			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr14:106054030C>G	ENST00000390539.2	-	0	488																											AGAGGTCACGCTCAGGTGGTC	0.632000													3	16					0	0	1	0	0
FXR1	0	broad.mit.edu	37	3	180630496	180630496	+	Missense_Mutation	SNP	T	T	G			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr3:180630496T>G	ENST00000357559.4	+	1	407	c.23T>G	c.(22-24)gTt>gGt	p.V8G	FXR1_ENST00000445140.2_Missense_Mutation_p.V8G|FXR1_ENST00000468861.1_5'UTR|FXR1_ENST00000491674.1_Missense_Mutation_p.V8G|FXR1_ENST00000491062.1_Missense_Mutation_p.V8G|FXR1_ENST00000305586.7_5'UTR	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	8					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ACGGTGGAGGTTCGCGGCTCT	0.592000											OREG0015934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	65					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs149757187		TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502000													3	58					0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27372135	27372135	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr2:27372135delG	ENST00000296096.5	+	1	264	c.134delG	c.(133-135)tgfs	p.W45fs	TCF23_ENST00000407815.3_3'UTR	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	45					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGACCCGTGGGAAGAAAGA	0.637													2	4	---	---	---	---					
SOX4	6659	broad.mit.edu	37	6	21595016	21595016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr6:21595016delT	ENST00000244745.1	+	1	1045	c.251delT	c.(250-252)agfs	p.M84fs	SOX4_ENST00000543472.1_Frame_Shift_Del_p.M84fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	84					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TCGCCCGACATGCACAACGCC	0.607													2	4	---	---	---	---					
PMS2P4	0	broad.mit.edu	37	7	66762432	66762432	+	RNA	DEL	G	G	-	rs60169909		TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr7:66762432delG	ENST00000414507.1	-	0	184																											gtctcaaaaagaaaaaaaaaa	0.408													3	6	---	---	---	---					
REXO1L1	254958	broad.mit.edu	37	8	86574438	86574439	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr8:86574438_86574439delAC	ENST00000379010.2	-	1	1287_1288	c.1288_1289delGT	c.(1288-1290)afs	p.V430fs		NM_172239.4	NP_758439.4	Q8IX06	GOR_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1	430	GOR1-125 epitope.					cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						CTGGTCGCGTACACAGCGGCCC	0.658													4	6	---	---	---	---					
