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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MYBBP1A	10514	broad.mit.edu	37	17	4451584	4451584	+	Silent	SNP	C	T	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr17:4451584C>T	uc002fxz.4	-	11	1640	c.1578G>A	c.(1576-1578)acG>acA	p.T526T	MYBBP1A_uc002fyb.4_Silent_p.T526T	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	526	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GCTTGAACTGCGTGCTGAGGG	0.637000														75			86		0	0	0.000781405	0	0
CAMKK1	84254	broad.mit.edu	37	17	3788981	3788981	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr17:3788981T>C	uc002fwv.3	-	1	149	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CAMKK1_uc002fwt.3_Missense_Mutation_p.M1V|CAMKK1_uc002fwu.3_Missense_Mutation_p.M1V	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	1					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CCCCCCTCCATTGCTTCAGTC	0.582000														63			14		0	0	0.000422831	0	0
TLN1	7094	broad.mit.edu	37	9	35703618	35703618	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr9:35703618T>C	uc003zxt.2	-	47	6767	c.6413A>G	c.(6412-6414)gAg>gGg	p.E2138G		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	2138					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTTGGTGGCCTCATCTTCCAC	0.527000														67			3		0	0	6.4e-05	0	0
ADAM11	4185	broad.mit.edu	37	17	42855164	42855164	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr17:42855164C>G	uc002ihh.3	+	22	2003	c.2003C>G	c.(2002-2004)cCa>cGa	p.P668R	ADAM11_uc010wjd.2_Missense_Mutation_p.P468R|ADAM11_uc002ihi.3_Missense_Mutation_p.Q21E	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	668	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CGCTGCCTGCCAGCTTCTGCC	0.657000														23			47		0	0	0.000589545	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224098	42224098	+	Missense_Mutation	SNP	G	A	A	rs146319665		TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr19:42224098G>A	uc002orl.3	+	6	1863	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	CEACAM5_uc002orj.1_Missense_Mutation_p.R580H	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	581	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AGTGCAAACCGCAGTGACCCA	0.517000														96			53		0	0	0.000781405	0	0
DNAH11	8701	broad.mit.edu	37	7	21737744	21737744	+	Silent	SNP	A	G	G			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr7:21737744A>G	uc003svc.3	+	36	6145	c.6114A>G	c.(6112-6114)ttA>ttG	p.L2038L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2038	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAATCTTGTTAGTTGCTGAAG	0.423000									Kartagener syndrome					35			34		0	0	0.000692331	0	0
CIT	11113	broad.mit.edu	37	12	120150415	120150415	+	Silent	SNP	G	C	C	rs147828404		TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr12:120150415G>C	uc001txj.2	-	35	4721	c.4665C>G	c.(4663-4665)ctC>ctG	p.L1555L	CIT_uc001txh.2_Silent_p.L1032L|CIT_uc001txi.2_Silent_p.L1513L	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1513	PH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			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)		CTGTATTTGCGAGTTCGGAAG	0.607000														68			3		0	0	0.00024832	0	0
ROBO4	54538	broad.mit.edu	37	11	124765531	124765531	+	Silent	SNP	G	A	A			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr11:124765531G>A	uc001qbg.3	-	5	998	c.858C>T	c.(856-858)acC>acT	p.T286T	ROBO4_uc010sas.2_Silent_p.T141T|ROBO4_uc001qbh.2_Silent_p.T176T|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	286	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGCAGTCTGGGTCCTGAACA	0.672000														66			28		0	0	0.000409698	0	0
C4orf37	285555	broad.mit.edu	37	4	98633942	98633942	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr4:98633942A>T	uc003htt.2	-	9	1318	c.1228T>A	c.(1228-1230)Tta>Ata	p.L410I		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	410										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		GATTTCCTTAAAACAGGATTG	0.348000														56			31		0	0	0.00058488	0	0
NPHP4	261734	broad.mit.edu	37	1	5935029	5935029	+	Silent	SNP	G	A	A			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr1:5935029G>A	uc001alq.2	-	20	3217	c.2949C>T	c.(2947-2949)gcC>gcT	p.A983A		NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	983					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCAGCGTGGCGTGGAGCG	0.627000														51			6		0	0	0.00116845	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26885310	26885310	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr1:26885310T>C	uc001bmr.1	+	13	1260	c.1097T>C	c.(1096-1098)aTc>aCc	p.I366T	RPS6KA1_uc010ofe.1_Missense_Mutation_p.I274T|RPS6KA1_uc010off.1_Missense_Mutation_p.I350T|RPS6KA1_uc001bms.1_Missense_Mutation_p.I375T|RPS6KA1_uc009vsl.1_Missense_Mutation_p.I209T	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	366	AGC-kinase C-terminal.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCCCCAGGCATCCCCCCCAGC	0.672000														76			3		0	0	0.000602214	0	0
TMEM26	219623	broad.mit.edu	37	10	63212836	63212836	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr10:63212836C>T	uc001jlo.2	-	0	373	c.4G>A	c.(4-6)Gag>Aag	p.E2K	TMEM26_uc001jlq.3_Non-coding_Transcript|BC041470_uc001jlr.3_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	2						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					ACCAGTCCCTCCATGCTGGCC	0.667000														41			24		0	0	0.000586117	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														46			4		0	0	0.000602214	0	0
CGN	57530	broad.mit.edu	37	1	151509762	151509762	+	Silent	SNP	C	T	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr1:151509762C>T	uc009wmw.3	+	20	3696	c.3552C>T	c.(3550-3552)taC>taT	p.Y1184Y	CGN_uc010pde.2_Silent_p.Y178Y	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	1178	Tail.					myosin complex|tight junction	actin binding|motor activity	p.Y1184Y(2)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACAGTGTCTACGATCCCTCGT	0.537000														42			16		0	0	0.000566183	0	0
KIAA0319	9856	broad.mit.edu	37	6	24578370	24578370	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr6:24578370C>G	uc011djo.2	-	8	1973	c.1473G>C	c.(1471-1473)ttG>ttC	p.L491F	KIAA0319_uc011djp.2_Missense_Mutation_p.L446F|KIAA0319_uc003neh.1_Missense_Mutation_p.L491F|KIAA0319_uc011djq.1_Missense_Mutation_p.L482F|KIAA0319_uc011djr.1_Missense_Mutation_p.L491F|KIAA0319_uc010jpt.1_5'UTR	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	491	PKD 2.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CAAGGTTAGACAAGCGTAAGA	0.408000														73			39		0	0	0.00111076	0	0
NCOA3	8202	broad.mit.edu	37	20	46254125	46254125	+	Splice_Site	SNP	G	T	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr20:46254125G>T	uc002xtk.3	+	5	518	c.257_splice	c.e5-1	p.G86_splice	NCOA3_uc002xtl.3_Splice_Site_p.G86_splice|NCOA3_uc002xtn.3_Splice_Site_p.G86_splice|NCOA3_uc010ght.2_Splice_Site_p.G86_splice|NCOA3_uc002xtm.3_Splice_Site_p.G86_splice|NCOA3_uc010zyc.2_5'Flank	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	86					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTCTTTTCAGGAAAAACTATT	0.378000														48			36		9.62906e-15	1.63509e-13	0.00128727	1	0
PARD3	56288	broad.mit.edu	37	10	34648076	34648076	+	Splice_Site	SNP	T	C	C			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr10:34648076T>C	uc010qej.2	-	14	2397	c.2067_splice	c.e14+1	p.E689_splice	PARD3_uc010qep.2_Splice_Site_p.E632_splice|PARD3_uc010qeq.2_Splice_Site_p.E632_splice|PARD3_uc010qek.2_Splice_Site_p.E689_splice|PARD3_uc010qel.2_Splice_Site_p.E689_splice|PARD3_uc010qem.2_Splice_Site_p.E676_splice|PARD3_uc010qen.2_Splice_Site_p.E676_splice|PARD3_uc010qeo.2_Splice_Site_p.E676_splice|PARD3_uc001ixo.2_Splice_Site_p.E406_splice|PARD3_uc001ixr.2_Splice_Site_p.E689_splice|PARD3_uc001ixq.2_Splice_Site_p.E676_splice|PARD3_uc001ixp.2_Splice_Site_p.E689_splice|PARD3_uc001ixt.1_Splice_Site_p.E510_splice|PARD3_uc001ixu.2_Splice_Site_p.E632_splice|PARD3_uc001ixs.1_Splice_Site_p.E342_splice	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	689					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ATTTCTTACCTCATTGCACTT	0.378000														94			36		0	0	0.000953801	0	0
DMXL1	1657	broad.mit.edu	37	5	118525502	118525502	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr5:118525502C>G	uc010jcl.1	+	28	7416	c.7235C>G	c.(7234-7236)cCa>cGa	p.P2412R	DMXL1_uc003ksd.2_Missense_Mutation_p.P2412R|DMXL1_uc021ycw.1_Missense_Mutation_p.P2239R	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2412										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCCTCGGCACCAGTAAGCCAG	0.438000														90			36		0	0	0.000953801	0	0
ADAR	103	broad.mit.edu	37	1	154562826	154562826	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr1:154562826T>C	uc001ffh.3	-	6	2572	c.2330A>G	c.(2329-2331)aAg>aGg	p.K777R	ADAR_uc021pag.1_Missense_Mutation_p.K482R|ADAR_uc001ffj.3_Missense_Mutation_p.K758R|ADAR_uc001ffi.3_Missense_Mutation_p.K777R|ADAR_uc001ffk.3_Missense_Mutation_p.K482R	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	777	DRBM 3.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GCCTTGCTTCTTGCTGTGTGC	0.542000														86			20		0	0	0.00152264	0	0
SNAP29	9342	broad.mit.edu	37	22	21237785	21237785	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr22:21237785G>C	uc011ahw.2	+	3	654	c.547G>C	c.(547-549)Gcc>Ccc	p.A183P		NM_004782	NP_004773	O95721	SNP29_HUMAN	Homo sapiens synaptosomal-associated protein, 29kDa (SNAP29), mRNA.	183					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GGCTGGTTCTGCCATGAGTAC	0.498000														186			78		0	0	0.000781405	0	0
CDK11B	984	broad.mit.edu	37	1	1638914	1638914	+	Silent	SNP	G	T	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr1:1638914G>T	uc009vks.3	-	10	1287	c.1179C>A	c.(1177-1179)ccC>ccA	p.P393P	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc001ahj.4_5'UTR|CDK11B_uc009vkp.3_Intron|CDK11B_uc009vkq.3_Intron|CDK11B_uc009vkr.3_Silent_p.P383P|CDK11B_uc010nys.2_Silent_p.P383P|CDK11B_uc010nyt.1_Silent_p.P393P|CDK11B_uc010nyu.1_Non-coding_Transcript	NM_024011	NP_076916	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11A (CDK11A), transcript variant 1, mRNA.	408	Glu-rich.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CAGGGGAGTCGGGCACATAGT	0.672000														10			13		0.000219431	0.00365581	0.000219431	1	0
LOC644669	644669	broad.mit.edu	37	18	15323336	15323336	+	RNA	SNP	G	A	A			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr18:15323336G>A	uc002ktd.1	-	2		c.123C>T								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		TTTCCTTATGGCCAATAAAAG	0.289000														14			4		0	0	0.00116845	0	0
CHD8	57680	broad.mit.edu	37	14	21862588	21862588	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr14:21862588T>A	uc001war.2	-	29	5512	c.5447A>T	c.(5446-5448)gAa>gTa	p.E1816V	CHD8_uc001was.2_Missense_Mutation_p.E1537V|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1816					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGGGTCATATTCCACACCAAA	0.438000														17			8		0	0	0.000274275	0	0
CACNA1S	779	broad.mit.edu	37	1	201034981	201034981	+	Silent	SNP	G	T	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr1:201034981G>T	uc001gvv.3	-	21	3065	c.2838C>A	c.(2836-2838)ggC>ggA	p.G946G		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	946					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGAGCTGGACGCCGATGCAGG	0.622000														16			10		0.000442599	0.00723732	0.000442599	1	0
FZR1	51343	broad.mit.edu	37	19	3525916	3525916	+	Silent	SNP	G	A	A			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr19:3525916G>A	uc010dtk.2	+	1	154	c.120G>A	c.(118-120)tcG>tcA	p.S40S	FZR1_uc002lxt.2_Silent_p.S40S|FZR1_uc002lxv.2_Silent_p.S40S	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	40					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTGTCCTCGCCCAGCAAGC	0.647000														25			11		0	0	0.000673444	0	0
CAND1	55832	broad.mit.edu	37	12	67691215	67691215	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr12:67691215C>A	uc001stn.2	+	4	957	c.520C>A	c.(520-522)Cct>Act	p.P174T	CAND1_uc001sto.2_5'Flank	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	174					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TAATTTCCATCCTTCAATTCT	0.408000														98			31		2.85442e-18	4.94206e-17	0.000339439	1	0
RBM47	54502	broad.mit.edu	37	4	40440532	40440532	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr4:40440532C>G	uc003gvc.2	-	3	1089	c.379G>C	c.(379-381)Gca>Cca	p.A127P	RBM47_uc003gvd.2_Missense_Mutation_p.A127P|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.A89P|RBM47_uc003gvg.1_Missense_Mutation_p.A127P	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	127	RRM 1.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCACGCACTGCGCGCTTGGCC	0.642000														43			6		0	0	8.12818e-05	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86162	86162	+	RNA	SNP	T	C	C			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chrGL000211.1:86162T>C	uc003bnz.1	+	5		c.910T>C			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TTGAGAATGTTAATGGATACA	0.443000														8			6		0	0	0.000274275	0	0
NR2F2	7026	broad.mit.edu	37	15	96875635	96875635	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr15:96875635A>G	uc010uri.2	+	0	1525	c.301A>G	c.(301-303)Agc>Ggc	p.S101G	NR2F2_uc002btp.3_Intron|NR2F2_uc010urj.2_5'Flank|MIR1469_uc021swi.1_5'Flank|NR2F2_uc010urk.2_5'Flank	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	101					lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GGGCTGCAAGAGCTTCTTCAA	0.612000														19			11		0	0	0.000978159	0	0
DCTN1	1639	broad.mit.edu	37	2	74604848	74604848	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr2:74604848C>G	uc002skx.3	-	2	603	c.285G>C	c.(283-285)caG>caC	p.Q95H	DCTN1_uc002skv.3_5'Flank|DCTN1_uc002sku.3_5'Flank|DCTN1_uc002skw.2_Missense_Mutation_p.Q95H|DCTN1_uc010ffd.3_Missense_Mutation_p.Q95H|DCTN1_uc002sky.3_Missense_Mutation_p.Q78H	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	95					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CTTCAAATACCTGGATCTGAG	0.458000														101			3		0	0	6.4e-05	0	0
CTSD	1509	broad.mit.edu	37	11	1776167	1776167	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr11:1776167G>A	uc001luc.2	-	5	929	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	MOB2_uc001ltq.2_Intron	NM_001909	NP_001900	P07339	CATD_HUMAN	Homo sapiens cathepsin D (CTSD), mRNA.	266					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGGCCTTGCGGGTGACATTC	0.627000														61			28		0	0	0.00127121	0	0
DSCAM	1826	broad.mit.edu	37	21	41459172	41459172	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr21:41459172G>A	uc002yyq.1	-	21	4345	c.3893C>T	c.(3892-3894)cCa>cTa	p.P1298L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1298	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTCATCCATGGAGTAGTCAC	0.488000														94			12		0	0	0.00185496	0	0
C20orf3	57136	broad.mit.edu	37	20	24944513	24944513	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr20:24944513C>T	uc002wtz.3	-	9	1312	c.1211G>A	c.(1210-1212)gGg>gAg	p.G404E	C20orf3_uc002wty.3_Missense_Mutation_p.G396E|C20orf3_uc010zsw.2_3'UTR	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN	Homo sapiens chromosome 20 open reading frame 3 (C20orf3), mRNA.	396					biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity	p.F403L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)	21						GTACAGGTGCCCATCGTGTTC	0.627000														108			18		0	0	0.00074312	0	0
RAB24	53917	broad.mit.edu	37	5	176729807	176729807	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr5:176729807C>G	uc003mfv.3	-	3	580	c.211G>C	c.(211-213)Gag>Cag	p.E71Q	RAB24_uc003mfw.3_Missense_Mutation_p.E71Q|PRELID1_uc003mfx.3_5'Flank|PRELID1_uc021yiq.1_5'Flank	NM_130781	NP_570137	Q969Q5	RAB24_HUMAN	Homo sapiens RAB24, member RAS oncogene family (RAB24), transcript variant 2, mRNA.	71					autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCATGGCCTCATAGCGCTCA	0.537000														70			3		0	0	0.00024832	0	0
DNAJB12	54788	broad.mit.edu	37	10	74100871	74100871	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr10:74100871T>A	uc001jsz.2	-	3	767	c.617A>T	c.(616-618)cAg>cTg	p.Q206L	DNAJB12_uc001jta.2_Missense_Mutation_p.Q206L|DNAJB12_uc010qjv.1_Missense_Mutation_p.Q206L	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 12 (DNAJB12), transcript variant 2, mRNA.	172					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						ATCGCCGAACTGGTCATACTG	0.602000														38			18		0	0	0.00188189	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724781	113724781	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr3:113724781T>C	uc003eax.3	-	9	1589	c.1442A>G	c.(1441-1443)aAg>aGg	p.K481R	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Missense_Mutation_p.K459R|KIAA1407_uc011bip.1_Missense_Mutation_p.K468R	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	481										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CAAGGGAGGCTTTTCCCACAA	0.478000														150			3		0	0	0.00024832	0	0
SVIL	6840	broad.mit.edu	37	10	29811367	29811367	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr10:29811367G>C	uc001iut.1	-	15	4114	c.3361C>G	c.(3361-3363)Ccc>Gcc	p.P1121A	SVIL_uc010qdw.1_Missense_Mutation_p.P19A|SVIL_uc001iuu.1_Missense_Mutation_p.P695A	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1121					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTTTTGCTGGGTGAGTCAAGA	0.468000														53			24		0	0	0.00047179	0	0
HPS3	84343	broad.mit.edu	37	3	148872995	148872995	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr3:148872995A>G	uc003ewu.1	+	7	1642	c.1502A>G	c.(1501-1503)aAa>aGa	p.K501R	HPS3_uc011bnq.1_Missense_Mutation_p.K336R	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	501						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CAGCTGTACAAAGAGATGGTA	0.348000									Hermansky-Pudlak syndrome					57			26		0	0	0.000720815	0	0
LRP6	4040	broad.mit.edu	37	12	12334210	12334210	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr12:12334210T>G	uc001rah.4	-	5	1282	c.1140A>C	c.(1138-1140)gaA>gaC	p.E380D	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.E380D	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	380	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TGGCCCTCACTTCATCATCAG	0.463000														89			54		0	0	0.000781405	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436053	72436053	+	Silent	SNP	T	A	A			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr17:72436053T>A	uc002jkp.3	+	1	784	c.273T>A	c.(271-273)tcT>tcA	p.S91S	GPRC5C_uc002jkq.3_Silent_p.S91S|GPRC5C_uc002jkr.3_Silent_p.S58S|GPRC5C_uc002jkt.3_Silent_p.S46S	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	46						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.R90C(1)|p.R90H(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GTGACCGCTCTGGGGCGTGGG	0.662000														65			79		0	0	0.000781405	0	0
KRT40	125115	broad.mit.edu	37	17	39140321	39140321	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr17:39140321T>A	uc010cxh.1	-	2	366	c.205A>T	c.(205-207)Aat>Tat	p.N69Y	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	69	Head.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CAGGGACTATTACAACTCCCA	0.547000														88			101		0	0	0.000781405	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91951	91951	+	RNA	SNP	C	G	G			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chrGL000211.1:91951C>G	uc003bnz.1	+	6		c.1307C>G			FLJ43315_uc003boa.3_Intron					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAATTTATCTATAGATTTC	0.318000														33			3		0	0	0.00116845	0	0
NRXN2	9379	broad.mit.edu	37	11	64453122	64453122	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr11:64453122C>T	uc021qkw.1	-	5	1610	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	NRXN2_uc021qkx.1_Missense_Mutation_p.R359H|NRXN2_uc001oas.3_Missense_Mutation_p.R359H|NRXN2_uc001oaq.3_Missense_Mutation_p.R57H	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	383	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding	p.R383R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCCTACCTGGCGCAGGTTTCG	0.602000														61			30		0	0	0.00178596	0	0
SCARNA2	677766	broad.mit.edu	37	1	109642945	109642945	+	RNA	DEL	G	-	-			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr1:109642945delG	uc001dwo.1	+	0		c.131delG								Homo sapiens small Cajal body-specific RNA 2 (SCARNA2), guide RNA.																		GAGCGTGTTAGGCGAGTGCGT	0.647													---	44	---	---	18	---					
TMEM237	65062	broad.mit.edu	37	2	202493983	202493983	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr2:202493983delA	uc021vvg.1	-	8	940	c.839delT	c.(838-840)ttgfs	p.L280fs	TMEM237_uc021vvd.1_Frame_Shift_Del_p.L75fs|TMEM237_uc021vve.1_Frame_Shift_Del_p.L272fs|TMEM237_uc021vvf.1_Frame_Shift_Del_p.L75fs|TMEM237_uc010zho.1_Frame_Shift_Del_p.L75fs|TMEM237_uc010zhp.1_Non-coding_Transcript	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	Homo sapiens transmembrane protein 237 (TMEM237), transcript variant 1, mRNA.	304						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						ACTCAGAGCCAAAAGCAAGTA	0.428													---	22	---	---	8	---					
CCR3	1232	broad.mit.edu	37	3	46306948	46306948	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr3:46306948delT	uc003cpl.2	+	2	1429	c.398delT	c.(397-399)gttfs	p.V133fs	CCR3_uc003cpg.2_Frame_Shift_Del_p.V100fs|CCR3_uc003cpk.2_Frame_Shift_Del_p.V121fs|CCR3_uc003cpi.2_Frame_Shift_Del_p.V100fs|CCR3_uc010hjb.2_Frame_Shift_Del_p.V118fs|CCR3_uc003cpj.2_Frame_Shift_Del_p.V100fs|CCR3_uc021wwz.1_Frame_Shift_Del_p.V100fs	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	100					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488													---	444	---	---	7	---					
RUNX2	860	broad.mit.edu	37	6	45390446	45390448	+	In_Frame_Del	DEL	CAG	-	-			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr6:45390446_45390448delCAG	uc011dvx.2	+	2	385_387	c.175_177delCAG	c.(175-177)cagdel	p.Q71del	RUNX2_uc011dvy.2_In_Frame_Del_p.Q71del|RUNX2_uc003oxt.3_In_Frame_Del_p.Q57del	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcaacagcagcagcagc	0.729													---	77	---	---	7	---					
FGL2	10875	broad.mit.edu	37	7	76828725	76828726	+	Frame_Shift_Ins	INS	-	T	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr7:76828725_76828726insT	uc003ugb.3	-	0	425_426	c.385_386insA	c.(385-387)agafs	p.R129fs	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	129					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TTCTCTAACTCTGTTATCACCA	0.495													---	135	---	---	33	---					
KAT6A	7994	broad.mit.edu	37	8	41836161	41836161	+	Splice_Site	DEL	C	-	-			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr8:41836161delC	uc010lxb.3	-	7	1587	c.1043_splice	c.e7+1	p.V348_splice	KAT6A_uc010lxc.3_Splice_Site_p.V348_splice|KAT6A_uc003xon.4_Splice_Site_p.V348_splice|KAT6A_uc010lxd.3_Splice_Site_p.V348_splice	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	348	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ACAACTTACACCGTGTTTTGT	0.383													---	278	---	---	105	---					
CNTLN	54875	broad.mit.edu	37	9	17462949	17462949	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr9:17462949delT	uc003zmz.2	+	19	3365	c.3339delT	c.(3337-3339)aatfs	p.N1113fs	CNTLN_uc003zmy.3_Frame_Shift_Del_p.N1114fs|CNTLN_uc010mio.3_Frame_Shift_Del_p.N793fs	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	1114						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGTCATCAAATGTGAAGACTT	0.299													---	69	---	---	29	---					
C11orf84	144097	broad.mit.edu	37	11	63594447	63594448	+	Frame_Shift_Del	DEL	GT	-	-			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr11:63594447_63594448delGT	uc001nxt.3	+	5	1218_1219	c.982_983delGT	c.(982-984)gtgfs	p.V328fs	C11orf84_uc001nxu.1_Non-coding_Transcript	NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	Homo sapiens chromosome 11 open reading frame 84 (C11orf84), mRNA.	328										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						GGTTATCCGCGTGCGGATGGAG	0.683													---	18	---	---	7	---					
RSPRY1	89970	broad.mit.edu	37	16	57261323	57261323	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr16:57261323delA	uc002elb.3	+	10	1509	c.1231delA	c.(1231-1233)aatfs	p.N411fs	RSPRY1_uc002elc.3_Frame_Shift_Del_p.N411fs|RSPRY1_uc002eld.3_Frame_Shift_Del_p.N411fs	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	411	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GATTTGGTACAATGCCAGAAG	0.453													---	45	---	---	54	---					
BACH1	571	broad.mit.edu	37	21	30698866	30698866	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr21:30698866delA	uc002ynk.3	+	2	964	c.721delA	c.(721-723)actfs	p.T241fs	BACH1_uc002ynj.3_Frame_Shift_Del_p.T241fs|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	241						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CAGAGTCCGTACTGGGGAATC	0.453													---	77	---	---	38	---					
