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
TTLL4	9654	broad.mit.edu	37	2	219603432	219603432	+	Missense_Mutation	SNP	G	G	A	rs138326187	byFrequency	TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr2:219603432G>A	ENST00000392102.1	+	3	1373	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	TTLL4_ENST00000258398.4_Missense_Mutation_p.A345T|TTLL4_ENST00000457313.1_Missense_Mutation_p.A180T|TTLL4_ENST00000442769.1_Missense_Mutation_p.A345T	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	345					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GAAATTGACCGCAAGAGGCTT	0.542000													4	109					0	0	0.000248	0	0
TBC1D3P2	0	broad.mit.edu	37	17	60342122	60342122	+	RNA	SNP	A	A	G			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr17:60342122A>G	ENST00000581291.1	-	0	2031																				breast(2)|kidney(1)|lung(2)	5						CCATGAGTTTAAAGTACAAAG	0.443000													2	12					0	0	0.004672	0	0
PDS5B	23047	broad.mit.edu	37	13	33315257	33315257	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr13:33315257G>A	ENST00000315596.10	+	22	2632	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	816					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GGTTCCAGATGAAGAAGTATC	0.289000													21	61					0	0	0.001523	0	0
ITGB3	3690	broad.mit.edu	37	17	45367119	45367119	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr17:45367119G>A	ENST00000559488.1	+	7	1028	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	ITGB3_ENST00000571680.1_Missense_Mutation_p.E338K|ITGB3_ENST00000435993.2_Missense_Mutation_p.E291K|ITGB3_ENST00000560629.1_Silent_p.*326*	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	338	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TGCAGTGACTGAAAATGTAGT	0.483000													21	35					0	0	0.001882	0	0
CTDP1	9150	broad.mit.edu	37	18	77464908	77464908	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr18:77464908A>C	ENST00000299543.7	+	5	910	c.763A>C	c.(763-765)Acc>Ccc	p.T255P	CTDP1_ENST00000075430.7_Missense_Mutation_p.T255P	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	255	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GTACGCACACACCATCGCAGG	0.547000													7	49					0	0	0.008291	0	0
POM121L9P	0	broad.mit.edu	37	22	24659741	24659741	+	RNA	SNP	G	G	A	rs144618782	by1000genomes	TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr22:24659741G>A	ENST00000414583.2	+	0	3266					NR_003714.1																						CTGTGGGAGGGGGGAATGTTC	0.622000													5	11					0	0	0.000602	0	0
CRP	1401	broad.mit.edu	37	1	159683396	159683396	+	Silent	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr1:159683396G>A	ENST00000255030.5	-	2	697	c.594C>T	c.(592-594)ttC>ttT	p.F198F	CRP_ENST00000343919.2_Silent_p.F76F|CRP_ENST00000368111.1_Silent_p.F76F|CRP_ENST00000437342.1_Silent_p.F20F|CRP_ENST00000368112.1_Intron|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368110.1_Silent_p.F76F	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	198	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CATTAGGACTGAAGGGCCCGC	0.542000													31	101					0	0	0.002445	0	0
PTGER4	5734	broad.mit.edu	37	5	40681232	40681232	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr5:40681232G>A	ENST00000302472.3	+	2	1161	c.137G>A	c.(136-138)cGc>cAc	p.R46H	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	46					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGCAAGTCGCGCAAGGAGCAG	0.627000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	76					0	0	0.000248	0	0
KCND2	3751	broad.mit.edu	37	7	119914768	119914768	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr7:119914768C>T	ENST00000331113.4	+	1	1047	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	28					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGGGCCTATGCCGGCTCCCCC	0.632000													5	242					0	0	0.000602	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463854	5463854	+	Silent	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr5:5463854G>A	ENST00000296564.7	+	13	4629	c.4407G>A	c.(4405-4407)aaG>aaA	p.K1469K		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1469										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGCTGAGAAGTCCCCAGAGG	0.522000													4	112					0	0	0.000602	0	0
APOB	338	broad.mit.edu	37	2	21229161	21229161	+	Missense_Mutation	SNP	G	G	A	rs144467873		TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr2:21229161G>A	ENST00000233242.1	-	26	10706	c.10579C>T	c.(10579-10581)Cgg>Tgg	p.R3527W		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3527			R -> Q (in FDB; dbSNP:rs5742904).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACTGAAGACCGTGTGCTCTTG	0.433000													4	139					0	0	0.000602	0	0
ISOC2	79763	broad.mit.edu	37	19	55966378	55966378	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr19:55966378G>A	ENST00000438389.2	-	4	1139	c.305C>T	c.(304-306)gCc>gTc	p.A102V	ISOC2_ENST00000425675.2_Missense_Mutation_p.A172V|ISOC2_ENST00000085068.3_Missense_Mutation_p.A188V	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	172					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GGGGTGGACGGCATCGCCCAC	0.622000											OREG0025682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	47					0	0	0.000248	0	0
SOS2	6655	broad.mit.edu	37	14	50671054	50671054	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr14:50671054T>A	ENST00000216373.5	-	2	435	c.161A>T	c.(160-162)cAg>cTg	p.Q54L	SOS2_ENST00000543680.1_Missense_Mutation_p.Q54L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	54					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATTAAGCAGCTGAAAAATCAG	0.348000													4	244					0	0	0.000248	0	0
MKS1	54903	broad.mit.edu	37	17	56283864	56283864	+	Splice_Site	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr17:56283864G>A	ENST00000337050.7	-	16	1418	c.1407_splice	c.e16-1	p.A470_splice	MKS1_ENST00000393119.2_Silent_p.G484G|MKS1_ENST00000537529.2_Silent_p.G474G|MKS1_ENST00000313863.6_Intron|MKS1_ENST00000546108.1_Silent_p.G281G			Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	0					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGTGACAGTGCCTGTGGTCT	0.617000													4	71					0	0	0.000602	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													9	21					0	0	0.006214	0	0
FRS3	10817	broad.mit.edu	37	6	41738433	41738433	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr6:41738433T>C	ENST00000373018.3	-	7	1654	c.1403A>G	c.(1402-1404)aAc>aGc	p.N468S	FRS3_ENST00000259748.2_Missense_Mutation_p.N468S	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	468					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCTGCAGGTTGGACATGGC	0.637000													6	99					0	0	0.001168	0	0
POM121L9P	0	broad.mit.edu	37	22	24659764	24659764	+	RNA	SNP	C	C	G	rs143464834	by1000genomes	TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr22:24659764C>G	ENST00000414583.2	+	0	3289					NR_003714.1																						AGTGTCCTAACAGCCCTGCTT	0.627000													2	8					0	0	0.004672	0	0
DNASE2	1777	broad.mit.edu	37	19	12989328	12989328	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr19:12989328C>T	ENST00000222219.3	-	5	669	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	DNASE2_ENST00000538460.1_Missense_Mutation_p.E138K	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	193					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						TCGGGGAATTCCTGGGCAAAG	0.557000													13	39					0	0	0.001368	0	0
SNX3	8724	broad.mit.edu	37	6	108581972	108581972	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr6:108581972T>C	ENST00000230085.8	-	1	492	c.154A>G	c.(154-156)Agg>Ggg	p.R52G	SNX3_ENST00000368982.4_Missense_Mutation_p.R52G|SNX3_ENST00000349379.5_Intron|SNX3_ENST00000426155.2_Missense_Mutation_p.R52G	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3	52	PX.				cell communication|endocytosis|protein transport	early endosome|endosome membrane	phosphatidylinositol-3-phosphate binding|protein phosphatase binding			large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		ACCTTGACCCTGATTTCGTAA	0.662000													3	56					0	0	0.004672	0	0
RALB	5899	broad.mit.edu	37	2	121050797	121050797	+	Silent	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr2:121050797G>A	ENST00000272519.5	+	5	852	c.582G>A	c.(580-582)aaG>aaA	p.K194K	RALB_ENST00000470417.1_3'UTR|RALB_ENST00000420510.1_Silent_p.K194K|RALB_ENST00000404963.3_Silent_p.K215K|RALB_ENST00000474855.2_Silent_p.K216K	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	194					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				AAAGCAGCAAGAACAAGAAAA	0.423000													5	38					0	0	0.000602	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155927538	155927538	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr1:155927538T>C	ENST00000368316.1	-	17	2067	c.1597A>G	c.(1597-1599)Acc>Gcc	p.T533A	ARHGEF2_ENST00000361247.4_Missense_Mutation_p.T561A|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.T533A|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.T562A|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.T560A			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	561	PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGGATCCAGGTGCTCCGGTCA	0.582000													5	57					0	0	0.000602	0	0
KMT2C	58508	broad.mit.edu	37	7	151864343	151864343	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr7:151864343G>A	ENST00000355193.2	-	42	9856	c.9638C>T	c.(9637-9639)tCa>tTa	p.S3213L	KMT2C_ENST00000262189.6_Missense_Mutation_p.S3213L					lysine (K)-specific methyltransferase 2C																		TTGTTTAGCTGAAAGGGCCTT	0.443000													36	97					0	0	0.003271	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				22	56					0	0	0.005443	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													4	88					0	0	0.000248	0	0
RAB3IP	117177	broad.mit.edu	37	12	70149196	70149196	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr12:70149196A>G	ENST00000550536.1	+	2	513	c.56A>G	c.(55-57)aAt>aGt	p.N19S	RAB3IP_ENST00000483530.2_Missense_Mutation_p.N3S|RAB3IP_ENST00000247833.7_Missense_Mutation_p.N3S|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Missense_Mutation_p.N3S|RAB3IP_ENST00000362025.5_Missense_Mutation_p.N19S	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	19					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GCTATGGCTAATGATCCCTTG	0.353000													3	66					0	0	0.004672	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661187	22661187	+	RNA	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr22:22661187G>A	ENST00000426066.1	+	0	279					NR_027293.1																						CCCCCACCCCGTCATGTACAG	0.413000													7	23					0	0	0.003080	0	0
SNX13	23161	broad.mit.edu	37	7	17855871	17855872	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr7:17855871_17855872insT	ENST00000409389.1	-	19	2091_2092	c.1919_1920insA	c.(1918-1920)aacfs	p.N640fs	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Frame_Shift_Ins_p.N629fs			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	640	PX.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TATTAAAAGTCTTTTTTCCAGG	0.292													2	4	---	---	---	---					
CIZ1	25792	broad.mit.edu	37	9	130953109	130953111	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr9:130953109_130953111delGCT	ENST00000538431.1	-	2	273_275	c.26_28delAGC	c.(25-30)ctc>c	p.QL9del	CIZ1_ENST00000541172.1_5'UTR|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000393608.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372948.3_In_Frame_Del_p.QL9del|CIZ1_ENST00000372954.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372938.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000357558.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000325721.8_In_Frame_Del_p.QL9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.QL9del	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	9	Gln-rich.			Missing (in Ref. 7; AAF23231).		nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						tgttgctggagctgctgctgctg	0.611													2	4	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gfs	p.V1447fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)					9	247	---	---	---	---					
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs63544660		TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccg>c	p.PA154del		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	154							nucleic acid binding|zinc ion binding	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768													2	4	---	---	---	---					
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661174	22661174	+	RNA	DEL	C	C	-			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr22:22661174delC	ENST00000426066.1	+	0	266					NR_027293.1																						TACAGGTTTTCCCCCCCCACC	0.403													7	25	---	---	---	---					
FUNDC1	139341	broad.mit.edu	37	X	44402059	44402059	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chrX:44402059delG	ENST00000378045.4	-	1	188	c.20delC	c.(19-21)ctfs	p.P8fs		NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN	FUN14 domain containing 1	8										breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						ACCTTGGGGAGGGGGGTTCCG	0.657													2	4	---	---	---	---					
