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
JUP	3728	broad.mit.edu	37	17	39915087	39915087	+	Silent	SNP	G	G	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:39915087G>A	ENST00000393931.3	-	9	1651	c.1533C>T	c.(1531-1533)tgC>tgT	p.C511C	JUP_ENST00000310706.5_Silent_p.C511C|JUP_ENST00000393930.1_Silent_p.C511C|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	511					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGTTGGCTGGGCACAGGGCCA	0.622000													3	11					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639059	3639059	+	Missense_Mutation	SNP	G	G	A	rs149362820		TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr16:3639059G>A	ENST00000294008.3	-	12	5220	c.4580C>T	c.(4579-4581)cCg>cTg	p.P1527L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1527	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CATCTGGGCCGGAGGAGGGGT	0.622000								Direct reversal of damage					4	190					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912605	77912605	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chrX:77912605C>T	ENST00000321110.1	-	2	1608	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	438							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTTGTGCCAACGGACCCATTC	0.547000													9	23					0	0	1	0	0
GH1	2688	broad.mit.edu	37	17	61995130	61995130	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:61995130G>A	ENST00000323322.5	-	4	488	c.446C>T	c.(445-447)aCg>aTg	p.T149M	GH1_ENST00000458650.2_Missense_Mutation_p.T134M|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Missense_Mutation_p.T109M|GH1_ENST00000342364.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	149					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CCCCATCAGCGTTTGGATGCC	0.567000													5	79					0	0	1	0	0
RPL10A	4736	broad.mit.edu	37	6	35437258	35437258	+	Nonsense_Mutation	SNP	G	G	T	rs11266793		TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr6:35437258G>T	ENST00000322203.6	+	4	289	c.262G>T	c.(262-264)Gag>Tag	p.E88*	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	88					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						CATGGACATCGAGGCGCTGAA	0.552000													9	22					0.000442599	0.000469424	1	1	0
USP33	23032	broad.mit.edu	37	1	78187835	78187835	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr1:78187835G>T	ENST00000370793.1	-	14	1875	c.1529C>A	c.(1528-1530)cCt>cAt	p.P510H	USP33_ENST00000370792.3_Missense_Mutation_p.P510H|USP33_ENST00000370794.3_Missense_Mutation_p.P479H|USP33_ENST00000357428.1_Missense_Mutation_p.P510H	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	510					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTCCTTGCCAGGAATTGGCAA	0.408000													6	92					5.9392e-07	6.496e-07	1	1	0
SLFN5	162394	broad.mit.edu	37	17	33592770	33592770	+	Nonsense_Mutation	SNP	C	C	T	rs146569957		TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:33592770C>T	ENST00000299977.4	+	5	2687	c.2539C>T	c.(2539-2541)Cga>Tga	p.R847*	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	847					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CAGTGTCTGTCGATTTTCAGG	0.493000													7	63					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48527104	48527104	+	Missense_Mutation	SNP	G	G	A	rs150258541		TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr15:48527104G>A	ENST00000396577.3	+	9	1333	c.1118G>A	c.(1117-1119)cGc>cAc	p.R373H	SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000558405.1_Missense_Mutation_p.R373H|SLC12A1_ENST00000330289.6_Missense_Mutation_p.R373H|SLC12A1_ENST00000380993.3_Missense_Mutation_p.R373H	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	373					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.R373H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTTGGGCCACGCTTCACAAAG	0.393000													5	47					0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41769659	41769659	+	Silent	SNP	C	C	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr15:41769659C>T	ENST00000389629.4	+	14	1698	c.1686C>T	c.(1684-1686)taC>taT	p.Y562Y		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	562					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CCCACAGTTACATCAACCAGC	0.458000													22	64					0	0	1	0	0
SCFD1	23256	broad.mit.edu	37	14	31097463	31097463	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr14:31097463G>A	ENST00000458591.2	+	2	337	c.110G>A	c.(109-111)aGc>aAc	p.S37N	SCFD1_ENST00000544052.2_Intron|SCFD1_ENST00000421551.3_Missense_Mutation_p.A8T|SCFD1_ENST00000396629.2_Intron|SCFD1_ENST00000541123.1_5'UTR	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	37					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		ATTAAAAACAGCACAGGAGAA	0.318000													15	65					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39750842	39750842	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr1:39750842A>T	ENST00000564288.1	+	12	1996	c.1219A>T	c.(1219-1221)Atg>Ttg	p.M407L	MACF1_ENST00000372915.3_Missense_Mutation_p.M412L|MACF1_ENST00000539005.1_Missense_Mutation_p.M412L|MACF1_ENST00000545844.1_Missense_Mutation_p.M412L|MACF1_ENST00000361689.2_Missense_Mutation_p.M412L|MACF1_ENST00000567887.1_Missense_Mutation_p.M444L|MACF1_ENST00000317713.7_Missense_Mutation_p.M412L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	412					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATCATAGAGATGCTGGAACG	0.473000													26	82					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502000			T	MLL	ALL								4	166					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11075358	11075358	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr7:11075358C>T	ENST00000403050.3	+	8	1999	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	PHF14_ENST00000445996.2_Missense_Mutation_p.S231F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	516							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GCTCTACAGTCCTATTGTAAA	0.368000													37	135					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817803	7817803	+	Silent	SNP	C	C	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr11:7817803C>T	ENST00000329434.2	-	1	717	c.687G>A	c.(685-687)ggG>ggA	p.G229G	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTTGTGGTGCCCCTCAGTGG	0.483000													4	74					0	0	1	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152222683	152222683	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr2:152222683C>T	ENST00000243347.3	+	3	421	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	116	Link.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTATGGAATCCGTCTCAATAG	0.428000													16	56					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													4	40					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73544680	73544680	+	Silent	SNP	C	C	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr10:73544680C>T	ENST00000224721.6	+	42	5555	c.5550C>T	c.(5548-5550)aaC>aaT	p.N1850N		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1845	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGACATCAACGACAACGACC	0.597000													12	27					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58143748	58143748	+	Splice_Site	SNP	C	C	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:58143748C>T	ENST00000184956.6	-	9	1255		c.e9-1		HEATR6_ENST00000585976.1_Splice_Site	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6								binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTGGTAAGACCTTTCATAACC	0.284000													5	19					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620062	56620062	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:56620062G>A	ENST00000321691.3	-	1	1667	c.1486C>T	c.(1486-1488)Cca>Tca	p.P496S	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	496										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACTCAGTGGTGCCCAACTT	0.493000													17	330					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71509360	71509360	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr9:71509360C>T	ENST00000265382.3	+	8	882	c.577C>T	c.(577-579)Cca>Tca	p.P193S	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.P193S	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	193	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CAACGTTTTGCCACGCTCCAT	0.408000													4	101					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													4	41					0	0	1	0	0
MTMR6	9107	broad.mit.edu	37	13	25848214	25848214	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr13:25848214T>C	ENST00000381801.5	-	2	897	c.136A>G	c.(136-138)Acc>Gcc	p.T46A	MTMR6_ENST00000540661.1_Missense_Mutation_p.T46A	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	46						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CTTACCCAGGTTTCTTTTTGA	0.338000													27	73					0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	170988533	170988533	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr4:170988533T>C	ENST00000337664.4	-	9	1183	c.907A>G	c.(907-909)Ata>Gta	p.I303V	AADAT_ENST00000353187.2_Missense_Mutation_p.I303V|AADAT_ENST00000509167.1_Missense_Mutation_p.I307V|AADAT_ENST00000515480.1_Missense_Mutation_p.I303V	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	303					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGCTGTGATATCATGAGCTAA	0.333000													14	35					0	0	1	0	0
AC226119.5	0	broad.mit.edu	37	4	3948570	3948570	+	RNA	SNP	G	G	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr4:3948570G>T	ENST00000281228.8	-	0	815				FAM86EP_ENST00000313946.8_RNA																							GGAGCCCGCTGGTGCTCCCGG	0.622000													3	52					0.004672	0.00480941	1	1	0
KDM5A	5927	broad.mit.edu	37	12	416835	416835	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr12:416835G>A	ENST00000399788.2	-	23	4077	c.3715C>T	c.(3715-3717)Cgg>Tgg	p.R1239W	KDM5A_ENST00000382815.4_Missense_Mutation_p.R1239W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1239					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1239W(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCAGGCAACCGTACGGGCAAC	0.512000			T	NUP98	AML								3	54					0	0	1	0	0
KRT12	3859	broad.mit.edu	37	17	39021060	39021060	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:39021060C>A	ENST00000251643.4	-	3	828	c.805G>T	c.(805-807)Gat>Tat	p.D269Y		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	269	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TGACTCACATCCTCGTGGTTC	0.507000													18	106					2.94398e-08	3.32385e-08	1	1	0
ALK	238	broad.mit.edu	37	2	29498076	29498076	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr2:29498076T>C	ENST00000389048.3	-	11	2836	c.1930A>G	c.(1930-1932)Atc>Gtc	p.I644V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	644					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTCTGCAGGATCTTGTCCTCT	0.498000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	52					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62800613	62800613	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr4:62800613G>A	ENST00000512091.1	+	13	2711	c.1964G>A	c.(1963-1965)aGa>aAa	p.R655K	LPHN3_ENST00000506720.1_Missense_Mutation_p.R723K|LPHN3_ENST00000508946.1_Missense_Mutation_p.R655K|LPHN3_ENST00000545650.1_Missense_Mutation_p.R655K|LPHN3_ENST00000509896.1_Missense_Mutation_p.R723K|LPHN3_ENST00000506700.1_Missense_Mutation_p.R655K|LPHN3_ENST00000514591.1_Missense_Mutation_p.R655K|LPHN3_ENST00000507625.1_Missense_Mutation_p.R723K|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000508693.1_Missense_Mutation_p.R723K|LPHN3_ENST00000506746.1_Missense_Mutation_p.R723K|LPHN3_ENST00000507164.1_Missense_Mutation_p.R723K|LPHN3_ENST00000511324.1_Missense_Mutation_p.R723K|LPHN3_ENST00000514996.1_Missense_Mutation_p.R655K|LPHN3_ENST00000514157.1_Missense_Mutation_p.R655K|LPHN3_ENST00000504896.1_Missense_Mutation_p.R655K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	642					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AATGCATGGAGAGACCTGACT	0.483000													5	35					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145641086	145641086	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr5:145641086G>T	ENST00000265271.5	+	13	2073	c.1907G>T	c.(1906-1908)gGt>gTt	p.G636V	RBM27_ENST00000506502.1_Missense_Mutation_p.G581V	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	636	RRM.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTTTAAGGGTGACCCAGAA	0.368000													4	65					0.00909568	0.00909568	1	1	0
OTUD3	23252	broad.mit.edu	37	1	20220960	20220960	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr1:20220960C>T	ENST00000375120.3	+	3	471	c.470C>T	c.(469-471)gCc>gTc	p.A157V	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	157	OTU.									breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAACTTAATGCCCCTTTGTGG	0.418000													3	47					0	0	1	0	0
C5orf45	51149	broad.mit.edu	37	5	179264450	179264450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr5:179264450G>A	ENST00000292586.6	-	7	1063	c.973C>T	c.(973-975)Cga>Tga	p.R325*	C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000523084.1_Nonsense_Mutation_p.R191*|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518219.1_3'UTR|SQSTM1_ENST00000389805.4_3'UTR|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000376931.2_Nonsense_Mutation_p.R270*|C5orf45_ENST00000520698.1_Intron	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	325										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CGTGTGGGTCGAGGATTCTGT	0.547000													4	204					0	0	1	0	0
RP11-649A16.1	0	broad.mit.edu	37	3	146995076	146995077	+	RNA	INS	-	-	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr3:146995076_146995077insA	ENST00000473299.1	-	0	132																											TTCTGGACTGtaaaaaaaaaaa	0.292													4	4	---	---	---	---					
BMPR1B	658	broad.mit.edu	37	4	96046274	96046275	+	Splice_Site	INS	-	-	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr4:96046274_96046275insA	ENST00000515059.1	+	8	868		c.e8+2		BMPR1B_ENST00000394931.1_Splice_Site|BMPR1B_ENST00000440890.2_Splice_Site|BMPR1B_ENST00000264568.4_Splice_Site	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB						BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CCTCTGCTGGTATGAGAAGAAC	0.421													11	36	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													3	6	---	---	---	---					
ZIC2	7546	broad.mit.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr13:100635008_100635010delCCA	ENST00000376335.3	+	1	983_985	c.690_692delCCA	c.(688-693)gcc>gc	p.AH230del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	230	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621													8	73	---	---	---	---					
SEPT1	1731	broad.mit.edu	37	16	30393855	30393855	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr16:30393855delG	ENST00000321367.3	-	2	180	c.135delC	c.(133-135)ggfs	p.G46fs	SEPT1_ENST00000605106.1_Frame_Shift_Del_p.G4fs|SEPT1_ENST00000571393.1_5'UTR	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	0					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CCATGACTCCGCCAGCCATCA	0.642													2	4	---	---	---	---