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
RANBP2	5903	broad.mit.edu	37	2	109381658	109381658	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr2:109381658C>T	ENST00000283195.6	+	20	4789	c.4663C>T	c.(4663-4665)Cga>Tga	p.R1555*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1555					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATGCTTAGTGCGAAATGAAGC	0.403000													39	52					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453155	140453155	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr7:140453155C>A	ENST00000288602.6	-	15	1840	c.1780G>T	c.(1780-1782)Gat>Tat	p.D594Y		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	594	Protein kinase.		D -> G (in NHL).		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.D594N(9)|p.D594H(2)	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)	AGACCAAAATCACCTATTTTT	0.378000		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				11	19					0.0931896	0.0976272	1	1	0
KIAA1429	25962	broad.mit.edu	37	8	95508078	95508078	+	Silent	SNP	G	G	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr8:95508078G>A	ENST00000297591.5	-	19	4500	c.4425C>T	c.(4423-4425)gaC>gaT	p.D1475D	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1475					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CAACTACACTGTCCAACAAAG	0.408000													15	18					0	0	1	0	0
IDI1	3422	broad.mit.edu	37	10	1089293	1089293	+	Silent	SNP	G	G	C			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr10:1089293G>C	ENST00000381344.3	-	3	520	c.354C>G	c.(352-354)acC>acG	p.T118T	IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000536039.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	61	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		GCTTATTTTCGGTGTTGAATA	0.318000													17	19					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020571	56020571	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr11:56020571A>G	ENST00000303059.3	+	1	896	c.896A>G	c.(895-897)gAc>gGc	p.D299G		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TATGCTTCAGACCATGACATC	0.388000													25	28					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30749672	30749672	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr16:30749672C>T	ENST00000262518.4	+	34	8696	c.8311C>T	c.(8311-8313)Cgg>Tgg	p.R2771W	SRCAP_ENST00000395059.2_Missense_Mutation_p.R2709W|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2613W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2771	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCGGCAGCAGCGGGGAGCTGC	0.652000													5	59					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67273844	67273844	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr17:67273844C>T	ENST00000392676.3	-	19	2596	c.2532G>A	c.(2530-2532)atG>atA	p.M844I	ABCA5_ENST00000392677.2_Missense_Mutation_p.M844I|ABCA5_ENST00000588877.1_Missense_Mutation_p.M844I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	844					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTATTGTATACATCTGTTGTT	0.358000													8	13					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	7					0.00116845	0.00128529	1	1	0
GRM4	2914	broad.mit.edu	37	6	34003851	34003851	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr6:34003851C>T	ENST00000538487.2	-	9	2479	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	GRM4_ENST00000609222.1_Missense_Mutation_p.R546H|GRM4_ENST00000535756.1_Missense_Mutation_p.R546H|GRM4_ENST00000544773.2_Missense_Mutation_p.R510H|GRM4_ENST00000374177.3_Missense_Mutation_p.R563H|GRM4_ENST00000374181.4_Missense_Mutation_p.R679H|GRM4_ENST00000455714.2_Missense_Mutation_p.R539H|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CTCGAAGATGCGGTAGATGCG	0.627000													44	75					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72892669	72892669	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr6:72892669G>C	ENST00000264839.7	+	6	1495	c.1495G>C	c.(1495-1497)Gac>Cac	p.D499H	RIMS1_ENST00000520567.1_Missense_Mutation_p.D499H|RIMS1_ENST00000518273.1_Missense_Mutation_p.D499H|RIMS1_ENST00000517960.1_Missense_Mutation_p.D499H|RIMS1_ENST00000491071.2_Missense_Mutation_p.D499H|RIMS1_ENST00000348717.5_Missense_Mutation_p.D499H|RIMS1_ENST00000522291.1_Missense_Mutation_p.D499H|RIMS1_ENST00000521978.1_Missense_Mutation_p.D499H			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	499					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCTGCGGAACGACTCTTTGAG	0.672000													7	3					0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113829165	113829165	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr5:113829165C>A	ENST00000512097.3	+	8	2466	c.1448C>A	c.(1447-1449)gCa>gAa	p.A483E	KCNN2_ENST00000507750.1_3'UTR|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000503706.1_Missense_Mutation_p.A135E|KCNN2_ENST00000264773.3_Missense_Mutation_p.A483E			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	483	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GTGGACTTGGCAAAGGTAAGC	0.413000													7	17					0.000157383	0.000176056	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													3	16					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101775492	101775492	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr15:101775492G>A	ENST00000254190.3	-	2	1086	c.611C>T	c.(610-612)aCg>aTg	p.T204M		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	204					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATTTCTTCCGTGGTGCCCAG	0.582000													10	24					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100523357	100523357	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr8:100523357C>T	ENST00000358544.2	+	29	4436	c.4325C>T	c.(4324-4326)aCt>aTt	p.T1442I	VPS13B_ENST00000357162.2_Missense_Mutation_p.T1417I|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1442					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTAGATGGCACTCATCAGCAG	0.333000													16	28					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13751270	13751270	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr5:13751270G>A	ENST00000265104.4	-	65	11232	c.11128C>T	c.(11128-11130)Cgt>Tgt	p.R3710C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3710	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGGAGGTACGGGCACTTATC	0.478000									Kartagener syndrome				16	29					0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	20884250	20884250	+	Silent	SNP	C	C	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr4:20884250C>A	ENST00000382152.2	-	2	311	c.144G>T	c.(142-144)acG>acT	p.T48T	KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382150.4_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	48						plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CAGGAGACGACGTTTTGGCAG	0.448000													8	18					0.00448238	0.00484979	1	1	0
ANKS1A	23294	broad.mit.edu	37	6	34949612	34949612	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr6:34949612G>A	ENST00000360359.3	+	4	719	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	ANKS1A_ENST00000535627.1_Missense_Mutation_p.R194Q	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	194						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGTACGGGCGACTGGAGGTG	0.562000													33	59					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr1:24993374C>A	ENST00000323848.9	+	13	2012	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.542000													4	36					0.248553	0.252376	1	1	0
UBR4	23352	broad.mit.edu	37	1	19513092	19513092	+	Silent	SNP	G	G	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr1:19513092G>A	ENST00000375267.2	-	14	1695	c.1692C>T	c.(1690-1692)acC>acT	p.T564T	UBR4_ENST00000375217.2_Silent_p.T564T|UBR4_ENST00000375226.2_Silent_p.T564T|UBR4_ENST00000375254.3_Silent_p.T564T			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	564					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TATTGGAGTCGGTGGAGGCGC	0.517000													14	21					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241033372	241033372	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr1:241033372G>C	ENST00000366565.1	-	7	814	c.433C>G	c.(433-435)Ctc>Gtc	p.L145V	RGS7_ENST00000366563.1_Missense_Mutation_p.L145V|RGS7_ENST00000446183.2_Missense_Mutation_p.L61V|RGS7_ENST00000366564.1_Missense_Mutation_p.L145V|RGS7_ENST00000331110.7_Missense_Mutation_p.L119V|RGS7_ENST00000407727.1_Missense_Mutation_p.L145V|RGS7_ENST00000348120.2_Missense_Mutation_p.L92V|RGS7_ENST00000366562.4_Missense_Mutation_p.L145V|RGS7_ENST00000401882.1_Missense_Mutation_p.L92V	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	145					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TAGTCTGCGAGCTCCAGTCGT	0.448000													20	30					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							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													3	29					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89521721	89521721	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr3:89521721C>T	ENST00000336596.2	+	16	3023	c.2798C>T	c.(2797-2799)aCg>aTg	p.T933M	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	933	SAM.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GAAATCTTCACGGGTGTGGAG	0.408000										TSP Lung(6;0.00050)			32	42					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427205	97427205	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr2:97427205G>A	ENST00000377075.2	+	1	567	c.469G>A	c.(469-471)Gac>Aac	p.D157N		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	157					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GGCCCAGCCCGACGGGCCCTG	0.627000													118	158					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	80328211	80328211	+	Silent	SNP	C	C	A	rs150091542		TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr14:80328211C>A	ENST00000281127.7	+	6	2082	c.1203C>A	c.(1201-1203)tcC>tcA	p.S401S	NRXN3_ENST00000554719.1_Silent_p.S1030S|NRXN3_ENST00000428277.2_Silent_p.S428S|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000335750.5_Silent_p.S1030S|NRXN3_ENST00000557594.1_Silent_p.S606S	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	606					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCAGCAACTCCGCCCAGAGCA	0.527000													5	23					0.014758	0.0157101	1	1	0
COL13A1	1305	broad.mit.edu	37	10	71690164	71690164	+	Silent	SNP	C	C	T			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr10:71690164C>T	ENST00000356340.3	+	28	2042	c.1506C>T	c.(1504-1506)cgC>cgT	p.R502R	COL13A1_ENST00000398971.3_Silent_p.R502R|COL13A1_ENST00000520133.1_Silent_p.R451R|COL13A1_ENST00000398972.3_Silent_p.R502R|COL13A1_ENST00000398974.3_Silent_p.R490R|COL13A1_ENST00000520267.1_Silent_p.R445R|COL13A1_ENST00000354547.3_Silent_p.R480R|COL13A1_ENST00000517713.1_Silent_p.R480R|COL13A1_ENST00000357811.3_Silent_p.R480R|COL13A1_ENST00000398964.3_Silent_p.R473R|COL13A1_ENST00000398969.3_Silent_p.R445R|COL13A1_ENST00000522165.1_Silent_p.R483R|COL13A1_ENST00000398978.3_Silent_p.R502R|COL13A1_ENST00000398968.3_Silent_p.R483R|COL13A1_ENST00000398966.3_Silent_p.R480R|COL13A1_ENST00000398973.3_Silent_p.R502R			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	502	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	p.R502R(1)|p.R485R(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AGGGACCTCGCGGTAAACCAG	0.542000													13	11					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79358832	79358832	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr1:79358832G>A	ENST00000370742.3	-	13	1855	c.1792C>T	c.(1792-1794)Cgt>Tgt	p.R598C		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	598					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.R598C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCAGTGTGACGAAAAACTTTG	0.299000													6	18					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	57994400	57994400	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr3:57994400A>G	ENST00000357272.4	+	1	274	c.109A>G	c.(109-111)Atc>Gtc	p.I37V	FLNB_ENST00000429972.2_Missense_Mutation_p.I37V|FLNB_ENST00000490882.1_Missense_Mutation_p.I37V|FLNB_ENST00000295956.4_Missense_Mutation_p.I37V|FLNB_ENST00000348383.5_Missense_Mutation_p.I37V|FLNB_ENST00000358537.3_Missense_Mutation_p.I37V			O75369	FLNB_HUMAN	filamin B, beta	37	Actin-binding.|CH 1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAACAAACGCATCGGCAACCT	0.602000													11	27					0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67811768	67811768	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr11:67811768T>A	ENST00000265686.3	+	9	1085	c.977T>A	c.(976-978)gTg>gAg	p.V326E	TCIRG1_ENST00000532635.1_Missense_Mutation_p.V110E	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	326					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TGGTGCTCTGTGCGAGACCTG	0.697000													4	5					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186057798	186057798	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr1:186057798G>A	ENST00000271588.4	+	63	9867	c.9638G>A	c.(9637-9639)cGg>cAg	p.R3213Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3213Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3213	Ig-like C2-type 30.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGATTGCCCGGTCTCAGCAT	0.363000													5	10					0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90429681	90429681	+	Silent	SNP	C	C	T			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr10:90429681C>T	ENST00000394375.3	+	6	653	c.540C>T	c.(538-540)ggC>ggT	p.G180G	LIPF_ENST00000238983.4_Silent_p.G170G|LIPF_ENST00000355843.2_Silent_p.G147G|LIPF_ENST00000608620.1_Silent_p.G137G	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	170					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		ACTATGTTGGCCATTCCCAGG	0.428000													61	95					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161753	90161753	+	RNA	SNP	T	T	C	rs6500470	by1000genomes	TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr16:90161753T>C	ENST00000567960.1	+	0	489				TUBB8P7_ENST00000564451.1_RNA																							CAGACAGGATTATAAACACAT	0.562000													5	47					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99459993	99459993	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr15:99459993G>A	ENST00000268035.6	+	10	2700	c.2089G>A	c.(2089-2091)Ggg>Agg	p.G697R	IGF1R_ENST00000558762.1_Missense_Mutation_p.G697R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	697					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TGGGGAGAAAGGGCCTTGCTG	0.547000													18	20					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77825389	77825389	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr13:77825389T>G	ENST00000407578.2	-	15	2544	c.2278A>C	c.(2278-2280)Aaa>Caa	p.K760Q	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.K722Q|MYCBP2_ENST00000357337.6_Missense_Mutation_p.K722Q	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	722	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTTCCATTTGTGCATGCCT	0.493000													16	22					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64124622	64124622	+	Missense_Mutation	SNP	G	G	A	rs61886888	by1000genomes	TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr11:64124622G>A	ENST00000359902.2	+	14	1951	c.1801G>A	c.(1801-1803)Gga>Aga	p.G601R	CCDC88B_ENST00000301897.4_3'UTR|CCDC88B_ENST00000356786.5_3'UTR|CCDC88B_ENST00000463837.1_3'UTR			A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1424					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGTGTCAGCGGAGGCCCCAG	0.667000													3	34					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92307793	92307793	+	Silent	SNP	C	C	T			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr8:92307793C>T	ENST00000276609.3	+	4	578	c.339C>T	c.(337-339)aaC>aaT	p.N113N	SLC26A7_ENST00000523719.1_Silent_p.N113N|SLC26A7_ENST00000309536.2_Silent_p.N113N	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	113						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TATCAGCCAACGCCGTGGAAC	0.443000													19	51					0	0	1	0	0
RAB10	10890	broad.mit.edu	37	2	26257488	26257488	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr2:26257488A>C	ENST00000264710.4	+	1	510	c.11A>C	c.(10-12)aAg>aCg	p.K4T		NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	4					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGCGAAGAAGACGTACGAC	0.602000													12	26					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34171324	34171324	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr17:34171324A>G	ENST00000588240.1	+	14	1244	c.1129A>G	c.(1129-1131)Aat>Gat	p.N377D	TAF15_ENST00000592237.1_Missense_Mutation_p.N286D|TAF15_ENST00000311979.3_Missense_Mutation_p.N374D	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	377	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GAATTCCTGCAATCAGTGCAA	0.443000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								25	43					0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51450186	51450186	+	Silent	SNP	G	G	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr12:51450186G>A	ENST00000418425.2	+	7	874	c.855G>A	c.(853-855)ttG>ttA	p.L285L	LETMD1_ENST00000547008.1_Silent_p.L148L|LETMD1_ENST00000262055.4_Silent_p.L272L|LETMD1_ENST00000550929.1_Silent_p.L216L|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000552739.1_Silent_p.L155L	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	272	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CTCCCTTGTTGAGACATCGTT	0.493000													36	50					0	0	1	0	0
SLC25A17	10478	broad.mit.edu	37	22	41215231	41215231	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr22:41215231C>T	ENST00000435456.2	-	1	155	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000544408.1_5'UTR|SLC25A17_ENST00000542412.1_Missense_Mutation_p.E8K	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	8					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						ACCAGGCTTTCGTAGGACAGC	0.637000											OREG0026586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	36					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993386	24993386	+	Missense_Mutation	SNP	G	G	T	rs78787676	byFrequency	TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr1:24993386G>T	ENST00000323848.9	+	13	2024	c.1709G>T	c.(1708-1710)cGc>cTc	p.R570L	SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	570	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.R570L(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCGACGGCGCAGGACTCCC	0.557000													4	31					5.9392e-07	6.7584e-07	1	1	0
LOC401127	401127	broad.mit.edu	37	4	39482195	39482195	+	RNA	SNP	G	G	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr4:39482195G>A	ENST00000513652.1	+	0	321																											GCCTACGCCCGTGAAGCCAAA	0.577000													28	47					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22291881	22291881	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr11:22291881G>A	ENST00000324559.8	+	18	2239	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	641						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGTGGAGACGCCGAAAAGCT	0.418000													21	17					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057961	27057961	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr1:27057961C>T	ENST00000324856.7	+	3	2040	c.1669C>T	c.(1669-1671)Cag>Tag	p.Q557*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q174*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q557*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	557					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q557*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCACAGGCTCAGTCTCCTTA	0.647000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								95	180					0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70732480	70732480	+	Silent	SNP	G	G	T			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr12:70732480G>T	ENST00000551483.1	+	2	4164	c.9G>T	c.(7-9)acG>acT	p.T3T	CNOT2_ENST00000229195.3_Silent_p.T352T|CNOT2_ENST00000418359.3_Silent_p.T352T			Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	352					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GGATGGTGACGGACCAATTTG	0.383000													3	35					0.115264	0.118866	1	1	0
CNTNAP1	8506	broad.mit.edu	37	17	40838159	40838159	+	Splice_Site	SNP	G	G	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr17:40838159G>A	ENST00000264638.4	+	6	1117	c.900G>A	c.(898-900)gaG>gaA	p.E300E	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	300	Laminin G-like 1.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGGACACTGAGGTGAGAGACT	0.527000													42	68					0	0	1	0	0
PTPN1	5770	broad.mit.edu	37	20	49196247	49196247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr20:49196247G>A	ENST00000371621.3	+	8	1046	c.872G>A	c.(871-873)tGg>tAg	p.W291*	PTPN1_ENST00000541713.1_Nonsense_Mutation_p.W218*	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	291					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	AAGGATCAGTGGAAGGAGCTT	0.567000											OREG0026029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	57					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204944416	204944416	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr1:204944416C>T	ENST00000367172.4	+	15	1904	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	NFASC_ENST00000367169.4_Missense_Mutation_p.R526W|NFASC_ENST00000403080.1_Missense_Mutation_p.R526W|NFASC_ENST00000367171.4_Missense_Mutation_p.R526W|NFASC_ENST00000338515.6_Missense_Mutation_p.R526W|NFASC_ENST00000338586.6_Missense_Mutation_p.R526W|NFASC_ENST00000404076.1_Missense_Mutation_p.R520W|NFASC_ENST00000513543.1_Missense_Mutation_p.R537W|NFASC_ENST00000539706.1_Missense_Mutation_p.R537W|NFASC_ENST00000401399.1_Missense_Mutation_p.R526W|NFASC_ENST00000404907.1_Missense_Mutation_p.R537W|NFASC_ENST00000367170.4_Missense_Mutation_p.R526W|NFASC_ENST00000360049.4_Missense_Mutation_p.R537W|NFASC_ENST00000339876.6_Missense_Mutation_p.R526W			O94856	NFASC_HUMAN	neurofascin	526	Ig-like C2-type 6.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAGGATCTACCGGATGCCCGA	0.632000											OREG0014142	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	54					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145328417	145328417	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr1:145328417A>G	ENST00000342960.5	+	33	4300	c.4265A>G	c.(4264-4266)gAc>gGc	p.D1422G	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1422										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAGACCAAGACCCACCATGC	0.458000													3	30					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78688943	78688943	+	Silent	SNP	C	C	T			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr3:78688943C>T	ENST00000436010.2	-	20	3868	c.2871G>A	c.(2869-2871)acG>acA	p.T957T	ROBO1_ENST00000467549.1_Silent_p.T951T|ROBO1_ENST00000464233.1_Silent_p.T996T|ROBO1_ENST00000495273.1_Silent_p.T951T			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	996					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CATTGCCTGCCGTGCAGCAGC	0.527000													11	24					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37831699	37831699	+	Translation_Start_Site	SNP	T	T	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr4:37831699T>A	ENST00000537241.1	+	0	207				PGM2_ENST00000381967.4_Silent_p.A65A|PGM2_ENST00000544359.1_De_novo_Start_OutOfFrame			Q96G03	PGM2_HUMAN	phosphoglucomutase 2						glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TCCGAGCTGCTATGGGACCTG	0.438000													12	25					0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1112417	1112417	+	Silent	SNP	G	G	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr19:1112417G>A	ENST00000361757.3	-	21	2736	c.2499C>T	c.(2497-2499)cgC>cgT	p.R833R	SBNO2_ENST00000438103.2_Silent_p.R776R|SBNO2_ENST00000587024.1_Silent_p.R823R	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	833					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGATGGCGCGGTCGGCGC	0.746000													3	4					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31497127	31497127	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chrX:31497127G>C	ENST00000357033.4	-	58	8847	c.8641C>G	c.(8641-8643)Cta>Gta	p.L2881V	DMD_ENST00000474231.1_Missense_Mutation_p.L421V|DMD_ENST00000378677.2_Missense_Mutation_p.L2877V|DMD_ENST00000378707.3_Missense_Mutation_p.L421V|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000343523.2_Missense_Mutation_p.L421V|DMD_ENST00000541735.1_Missense_Mutation_p.L421V|DMD_ENST00000359836.1_Missense_Mutation_p.L421V	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2881					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGTTTCTCTAGTCCTTCCAAA	0.423000													8	3					0	0	1	0	0
TMEM204	79652	broad.mit.edu	37	16	1604966	1604966	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr16:1604966G>A	ENST00000566264.1	+	3	1323	c.620G>A	c.(619-621)cGc>cAc	p.R207H	TMEM204_ENST00000253934.5_Missense_Mutation_p.R207H|IFT140_ENST00000426508.2_Intron|IFT140_ENST00000439987.2_Intron	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	207					response to stress	adherens junction|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				GTCATCAGCCGCTCCCTGACA	0.622000													12	23					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126781360	126781360	+	Silent	SNP	C	C	T			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr5:126781360C>T	ENST00000274473.6	+	21	2970	c.2703C>T	c.(2701-2703)gtC>gtT	p.V901V	MEGF10_ENST00000503335.2_Silent_p.V901V|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	901					cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTATGAGGGTCGTCAATGCAG	0.418000													23	36					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27099846	27099847	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr1:27099846_27099847delGT	ENST00000324856.7	+	15	4096_4097	c.3725_3726delGT	c.(3724-3726)agtfs	p.S1242fs	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S859fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S1242fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1242					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTCCAGGGAGTGATCCCTTCA	0.589			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								37	34	---	---	---	---					
ZFP36L2	678	broad.mit.edu	37	2	43451740	43451742	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr2:43451740_43451742delCTG	ENST00000282388.3	-	2	1494_1496	c.1201_1203delCAG	c.(1201-1203)cagdel	p.Q401del	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	401	Poly-Gln.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				gcgccaggccctgctgctgctgc	0.764													2	4	---	---	---	---					
RGS22	26166	broad.mit.edu	37	8	101076229	101076229	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr8:101076229delT	ENST00000360863.6	-	8	961	c.767delA	c.(766-768)aagfs	p.K256fs	RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	256					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGATGGGTCCTTTTTTGTCCT	0.328													8	1525	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108196912	108196923	+	In_Frame_Del	DEL	TCAAGCAAATGA	TCAAGCAAATGA	-			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr11:108196912_108196923delTCAAGCAAATGA	ENST00000278616.4	+	47	7320_7331	c.6935_6946delTCAAGCAAATGA	c.(6934-6948)ctcaagcaaatgatc>ctc	p.KQMI2313del	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_In_Frame_Del_p.KQMI2313del	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2313	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTGAGTATTCTCAAGCAAATGATCAAGAAGTT	0.382			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			7	40	---	---	---	---					
CHEK1	1111	broad.mit.edu	37	11	125505378	125505378	+	Frame_Shift_Del	DEL	A	A	-	rs35817404		TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr11:125505378delA	ENST00000534070.1	+	7	923	c.668delA	c.(667-669)gaafs	p.E223fs	CHEK1_ENST00000524737.1_Frame_Shift_Del_p.E223fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000438015.1_Frame_Shift_Del_p.E223fs|CHEK1_ENST00000427383.2_Frame_Shift_Del_p.E239fs|CHEK1_ENST00000278916.3_Frame_Shift_Del_p.E223fs|CHEK1_ENST00000428830.2_Frame_Shift_Del_p.E223fs|CHEK1_ENST00000544373.1_Frame_Shift_Del_p.E223fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Protein kinase.		E -> V (in dbSNP:rs35817404).		cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GACTGGAAAGAAAAAAAAACA	0.363								Other conserved DNA damage response genes					7	97	---	---	---	---					
NRIP2	83714	broad.mit.edu	37	12	2944036	2944037	+	Frame_Shift_Ins	INS	-	-	GG	rs34286265		TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr12:2944036_2944037insGG	ENST00000337508.4	-	1	153_154	c.113_114insCC	c.(112-114)ccafs	p.P38fs		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	38					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGCTGCTCGGTGGGGGCGTCAC	0.644													24	58	---	---	---	---					
IKZF3	22806	broad.mit.edu	37	17	37985652	37985653	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr17:37985652_37985653insAG	ENST00000346872.3	-	3	211_212	c.150_151insCT	c.(148-153)gatgaafs	p.E51fs	IKZF3_ENST00000535189.1_Intron|IKZF3_ENST00000394189.2_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000439016.2_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000377945.3_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000377944.3_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000467757.1_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000351680.3_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000350532.3_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000377952.2_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000377958.2_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000346243.3_Frame_Shift_Ins_p.E51fs	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	51					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCTATGTCTTCATCTTCATTGG	0.416													17	37	---	---	---	---					
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Frame_Shift_Del	DEL	T	T	-	rs77187934		TCGA-E7-A4XJ-01A-11D-A26M-08	TCGA-E7-A4XJ-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77f9d11d-234b-478e-b1a9-a0afb274ab55	e730bac2-947f-4067-a1d1-2836780b947a	g.chr19:52877717delT	ENST00000597976.1	+	3	325	c.305delT	c.(304-306)attfs	p.I102fs	ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000422689.2_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473													3	3	---	---	---	---					
