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
MT-CO1	4512	broad.mit.edu	37	MT	6320	6320	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chrM:6320T>C	ENST00000361624.2	+	1	417	c.417T>C	c.(415-417)ccT>ccC	p.139_139insP						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TACTCCCACCCTGGAGCCTCC	0.502000													7	38					0	0	0.307466	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227216783	227216783	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:227216783C>T	ENST00000366769.3	-	29	5193	c.3902G>A	c.(3901-3903)tGt>tAt	p.C1301Y	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.C1220Y|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.C1273Y|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.C1336Y|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.C1301Y|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.C1281Y|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.C1314Y	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1314	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TACGGTTTGACACCCTTTAGT	0.468000													5	51					0	0	0.184627	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514941	50514941	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:50514941C>G	ENST00000419119.1	-	2	1598	c.45G>C	c.(43-45)caG>caC	p.Q15H	FIGNL1_ENST00000435566.1_Missense_Mutation_p.Q15H|FIGNL1_ENST00000395556.2_Missense_Mutation_p.Q15H|FIGNL1_ENST00000356889.4_Missense_Mutation_p.Q15H|FIGNL1_ENST00000433017.1_Missense_Mutation_p.Q15H			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	15					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AGTAATTCTTCTGCCATTCAC	0.413000													13	26					0	0	0.457914	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42442333	42442333	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:42442333C>G	ENST00000397272.3	-	10	983	c.892G>C	c.(892-894)Gag>Cag	p.E298Q	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.E298Q	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	298					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGAGCCACCTCCTGGCCCTGA	0.617000													3	37					0	0	0.150653	0	0
FOXG1	2290	broad.mit.edu	37	14	29237058	29237058	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:29237058G>C	ENST00000382535.3	+	2	942	c.573G>C	c.(571-573)atG>atC	p.M191I	FOXG1_ENST00000313071.4_Missense_Mutation_p.M191I			P55316	FOXG1_HUMAN	forkhead box G1	191					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CGCTCATCATGATGGCCATCC	0.617000													4	40					0	0	0.150653	0	0
TECPR1	25851	broad.mit.edu	37	7	97861158	97861158	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:97861158G>T	ENST00000447648.2	-	13	2231	c.1932C>A	c.(1930-1932)gaC>gaA	p.D644E	TECPR1_ENST00000542604.1_Missense_Mutation_p.D574E|TECPR1_ENST00000379795.3_Missense_Mutation_p.D645E			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	644	PH.					integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAGGATGCTGTCCCGGACGC	0.657000													6	126					0.0293803	0.0301112	0.248553	1	0
GAP43	2596	broad.mit.edu	37	3	115395104	115395104	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:115395104C>T	ENST00000393780.3	+	3	851	c.383C>T	c.(382-384)cCa>cTa	p.P128L	GAP43_ENST00000305124.6_Missense_Mutation_p.P92L	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	92					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GAAGCAGCCCCAGCCACTGGC	0.602000													6	47					0	0	0.335167	0	0
NKD1	85407	broad.mit.edu	37	16	50667326	50667326	+	Silent	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr16:50667326C>A	ENST00000268459.3	+	10	1271	c.1047C>A	c.(1045-1047)ccC>ccA	p.P349P		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	349					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TGAGGTCCCCCAAGGCCCAGG	0.667000													6	59					5.18039e-06	5.61663e-06	0.278610	1	0
AP1G1	164	broad.mit.edu	37	16	71768545	71768545	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr16:71768545G>C	ENST00000299980.4	-	22	2775	c.2334C>G	c.(2332-2334)atC>atG	p.I778M	AP1G1_ENST00000569748.1_Missense_Mutation_p.I778M|AP1G1_ENST00000564155.1_Missense_Mutation_p.I203M|AP1G1_ENST00000423132.2_Missense_Mutation_p.I781M|AP1G1_ENST00000433195.2_Missense_Mutation_p.I801M|AP1G1_ENST00000393512.3_Missense_Mutation_p.I781M	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	778	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TGACTTGTGTGATGGTCCCCG	0.453000													13	193					0	0	0.435327	0	0
LAMA5	3911	broad.mit.edu	37	20	60888187	60888187	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr20:60888187C>T	ENST00000252999.3	-	65	8978	c.8912G>A	c.(8911-8913)cGg>cAg	p.R2971Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2971	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACACGAGCCGCAGCTCCTG	0.652000													14	7					0	0	0.457914	0	0
TCHH	7062	broad.mit.edu	37	1	152085245	152085245	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:152085245C>T	ENST00000368804.1	-	2	447	c.448G>A	c.(448-450)Gag>Aag	p.E150K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	150					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCTCCCTCAGCTAGCTCC	0.582000													41	184					0	0	0.847076	0	0
DNAH2	146754	broad.mit.edu	37	17	7734557	7734557	+	Silent	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:7734557C>A	ENST00000572933.1	+	80	13844	c.12384C>A	c.(12382-12384)acC>acA	p.T4128T	DNAH2_ENST00000389173.2_Silent_p.T4128T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4128					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGCACAAACCCTCTTTGATA	0.557000													54	118					1.0331e-37	1.18892e-37	0.870114	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553835	140553835	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:140553835C>T	ENST00000231137.3	+	1	1593	c.1419C>T	c.(1417-1419)gtC>gtT	p.V473V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		473	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGCAGTGTCAGCGCCACAG	0.637000													6	85					0	0	0.278610	0	0
USP15	9958	broad.mit.edu	37	12	62715321	62715321	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:62715321G>C	ENST00000280377.5	+	5	610	c.552G>C	c.(550-552)atG>atC	p.M184I	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.M184I|USP15_ENST00000312635.6_Missense_Mutation_p.M184I|USP15_ENST00000353364.3_Missense_Mutation_p.M184I	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	184					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACAAATACATGAGTAACACAT	0.328000													6	42					0	0	0.217242	0	0
AOC3	8639	broad.mit.edu	37	17	41003847	41003847	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:41003847C>T	ENST00000308423.2	+	1	647	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	163					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TCATGGAGGCCCCCTGCCCTA	0.617000													11	37					0	0	0.387290	0	0
TRIP11	9321	broad.mit.edu	37	14	92471271	92471271	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:92471271C>T	ENST00000267622.4	-	11	3422	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1017					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTTCCGTTTCAGCTTTAGAT	0.303000			T	PDGFRB	AML								6	63					0	0	0.217242	0	0
FOXO1	2308	broad.mit.edu	37	13	41134162	41134162	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr13:41134162C>T	ENST00000379561.5	-	2	1850	c.1466G>A	c.(1465-1467)aGc>aAc	p.S489N		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	489					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CAGAACCCGGCTGTTGGGCTG	0.522000													12	79					0	0	0.411799	0	0
PRIM2	5558	broad.mit.edu	37	6	57398239	57398239	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr6:57398239G>T	ENST00000607273.1	+	10	1029	c.942G>T	c.(940-942)aaG>aaT	p.K314N	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	314					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TATTTCTGAAGGGCATTGGTT	0.388000													11	106					3.07112e-06	3.34736e-06	0.387290	1	0
KMT2C	58508	broad.mit.edu	37	7	151859794	151859794	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:151859794G>C	ENST00000355193.2	-	43	11086	c.10868C>G	c.(10867-10869)tCa>tGa	p.S3623*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.S3623*					lysine (K)-specific methyltransferase 2C																		ATGGGGAGTTGATGGAGCCTT	0.448000													12	56					0	0	0.387290	0	0
CCDC176	80127	broad.mit.edu	37	14	74523883	74523883	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:74523883C>T	ENST00000394009.3	+	11	1623	c.1500C>T	c.(1498-1500)acC>acT	p.T500T	CCDC176_ENST00000553773.1_Silent_p.T225T|ALDH6A1_ENST00000553458.1_3'UTR|CCDC176_ENST00000492247.2_Silent_p.T44T|AC005484.5_ENST00000492026.1_RNA	NM_025057.2	NP_079333.2			coiled-coil domain containing 176																		TCTTCATCACCCAGCAAATTG	0.393000													15	81					0	0	0.457914	0	0
ATP5F1	515	broad.mit.edu	37	1	111996851	111996851	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:111996851G>C	ENST00000369722.3	+	3	702	c.96G>C	c.(94-96)agG>agC	p.R32S	ATP5F1_ENST00000483994.1_Intron|ATP5F1_ENST00000369721.4_Intron	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	32					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGCAACAAGGACCTTTCATA	0.418000													9	71					0	0	0.307466	0	0
TSLP	85480	broad.mit.edu	37	5	110408586	110408586	+	Splice_Site	SNP	A	A	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:110408586A>G	ENST00000420978.2	+	3	1594	c.171_splice	c.e3-1	p.T58_splice	TSLP_ENST00000344895.3_Splice_Site_p.T58_splice			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	58						extracellular space	cytokine activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTTCTTCCAGACCAAAAGTAC	0.478000													3	77					0	0	0.115264	0	0
LRP8	7804	broad.mit.edu	37	1	53736921	53736921	+	Silent	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:53736921G>C	ENST00000306052.6	-	7	1205	c.1104C>G	c.(1102-1104)ctC>ctG	p.L368L	LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.L368L|LRP8_ENST00000354412.3_Silent_p.L239L|LRP8_ENST00000347547.2_Silent_p.L198L	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	368	EGF-like 1.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TCTGGTCCAGGAGCTGGAAGC	0.577000													7	109					0	0	0.387290	0	0
MYH13	8735	broad.mit.edu	37	17	10248844	10248844	+	Silent	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:10248844G>T	ENST00000418404.3	-	13	1516	c.1353C>A	c.(1351-1353)acC>acA	p.T451T	MYH13_ENST00000570743.1_Silent_p.T451T|MYH13_ENST00000252172.4_Silent_p.T451T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	451	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGGCTGCTTGGTGTCCAGCT	0.512000													24	88					1.74807e-11	1.96777e-11	0.750413	1	0
CABLES2	81928	broad.mit.edu	37	20	60966046	60966046	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr20:60966046C>T	ENST00000279101.5	-	10	1426	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	473					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTGGGTGAGGCGCCTGTAATG	0.612000													24	71					0	0	0.654019	0	0
IGSF10	285313	broad.mit.edu	37	3	151166371	151166371	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:151166371C>T	ENST00000282466.3	-	4	1397	c.1398G>A	c.(1396-1398)agG>agA	p.R466R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	466	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTTCACTGGCCTCATCTCTG	0.453000													33	162					0	0	0.740014	0	0
NCK2	8440	broad.mit.edu	37	2	106498121	106498121	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:106498121G>A	ENST00000233154.4	+	4	1006	c.564G>A	c.(562-564)ctG>ctA	p.L188L	NCK2_ENST00000393349.2_Silent_p.L188L|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	188					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GCGCCTCGCTGAGCAATGGCC	0.647000													12	94					0	0	0.479597	0	0
KMT2C	58508	broad.mit.edu	37	7	151859737	151859737	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:151859737G>C	ENST00000355193.2	-	43	11143	c.10925C>G	c.(10924-10926)tCt>tGt	p.S3642C	KMT2C_ENST00000262189.6_Missense_Mutation_p.S3642C					lysine (K)-specific methyltransferase 2C																		TGCAGGAGTAGAGGTAGTTTC	0.532000													22	75					0	0	0.608945	0	0
TGFBR2	7048	broad.mit.edu	37	3	30729917	30729917	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:30729917G>A	ENST00000295754.5	+	6	1820	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E505K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	480	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CAAGGTGCGGGAGCACCCCTG	0.507000													15	68					0	0	0.457914	0	0
RASA2	5922	broad.mit.edu	37	3	141231006	141231006	+	Splice_Site	SNP	T	T	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:141231006T>A	ENST00000286364.3	+	2	170	c.133_splice	c.e2-1	p.C45_splice	RASA2_ENST00000452898.1_Splice_Site_p.C45_splice			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	45	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGCCAACAGGTGAAGCAAAAA	0.323000													15	45					0	0	0.457914	0	0
CPNE9	151835	broad.mit.edu	37	3	9747714	9747714	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:9747714G>C	ENST00000383832.3	+	7	534	c.344G>C	c.(343-345)gGa>gCa	p.G115A	CPNE9_ENST00000383831.3_Missense_Mutation_p.G115A	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	115										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GAGGTGATTGGAGGCCAGGGC	0.587000													4	44					0	0	0.184627	0	0
ITGA10	8515	broad.mit.edu	37	1	145538042	145538042	+	Silent	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:145538042C>A	ENST00000369304.3	+	22	2896	c.2721C>A	c.(2719-2721)gtC>gtA	p.V907V	ITGA10_ENST00000538811.1_Silent_p.V776V|ITGA10_ENST00000539363.1_Silent_p.V764V	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	907					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGAGCCAGGTCTTCGTGAAGC	0.527000													54	174					1.38658e-30	1.58686e-30	0.870114	1	0
KDM4B	23030	broad.mit.edu	37	19	5047507	5047507	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:5047507C>T	ENST00000159111.4	+	6	671	c.453C>T	c.(451-453)atC>atT	p.I151I	KDM4B_ENST00000381759.4_Silent_p.I151I|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Silent_p.I151I	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	151	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGTGGAACATCGGGAGCCTCC	0.662000													5	59					0	0	0.217242	0	0
B4GALT7	11285	broad.mit.edu	37	5	177036573	177036573	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:177036573G>A	ENST00000029410.5	+	6	972	c.861G>A	c.(859-861)ctG>ctA	p.L287L		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	287					fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGGAGGCCTGAACACTGTGA	0.612000													23	125					0	0	0.624587	0	0
CRKL	1399	broad.mit.edu	37	22	21304053	21304053	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr22:21304053G>A	ENST00000354336.3	+	3	1341	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	278	SH3 2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			GTGGGAAGGCGAAGTGAACGG	0.453000													18	218					0	0	0.520397	0	0
NUTF2	10204	broad.mit.edu	37	16	67899106	67899106	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr16:67899106G>C	ENST00000219169.4	+	2	356	c.73G>C	c.(73-75)Gat>Cat	p.D25H	NUTF2_ENST00000569436.2_Missense_Mutation_p.D25H|NUTF2_ENST00000568396.2_Missense_Mutation_p.D25H	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	25	NTF2.				protein transport	cytosol|nuclear pore	protein binding|transporter activity			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		ATTTGATAATGATAGAACCCA	0.483000													5	36					0	0	0.217242	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412495	105412495	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:105412495G>A	ENST00000333244.5	-	7	9412	c.9293C>T	c.(9292-9294)aCg>aTg	p.T3098M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3098						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCGGGGGCCGTCACGTCCGT	0.627000													40	236					0	0	0.870114	0	0
MTTP	4547	broad.mit.edu	37	4	100532392	100532392	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr4:100532392T>C	ENST00000457717.1	+	14	2118	c.1862T>C	c.(1861-1863)aTa>aCa	p.I621T	MTTP_ENST00000265517.5_Missense_Mutation_p.I621T|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.I648T	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	621	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ACTGGCTACATAGAACGTATG	0.433000													15	89					0	0	0.500413	0	0
RALGPS1	9649	broad.mit.edu	37	9	129937010	129937010	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:129937010G>A	ENST00000259351.5	+	11	1126	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	RALGPS1_ENST00000394022.3_Missense_Mutation_p.E287K|RALGPS1_ENST00000373436.1_Missense_Mutation_p.E287K|RALGPS1_ENST00000424082.2_Missense_Mutation_p.E287K|RALGPS1_ENST00000373434.1_Missense_Mutation_p.E287K	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	287	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTCAGAATCGAACCAGGAAG	0.463000													14	190					0	0	0.435327	0	0
FSCN3	29999	broad.mit.edu	37	7	127235925	127235925	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:127235925C>T	ENST00000265825.5	+	2	928	c.709C>T	c.(709-711)Cca>Tca	p.P237S	FSCN3_ENST00000420086.2_Missense_Mutation_p.P103S	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	237						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CATGTTATATCCACAGGGCAC	0.582000													29	86					0	0	0.693898	0	0
HCAR3	8843	broad.mit.edu	37	12	123200775	123200775	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:123200775C>G	ENST00000528880.2	-	1	664	c.510G>C	c.(508-510)caG>caC	p.Q170H	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	170						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	CAGTGCCATTCTGGATCAGCA	0.522000													12	70					0	0	0.387290	0	0
TINF2	26277	broad.mit.edu	37	14	24711353	24711353	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:24711353C>T	ENST00000399423.4	-	1	516	c.186G>A	c.(184-186)aaG>aaA	p.K62K	TINF2_ENST00000267415.7_Silent_p.K62K|TINF2_ENST00000558510.1_5'UTR|TINF2_ENST00000540705.1_Silent_p.K62K|TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000559019.1_Silent_p.K62K|TINF2_ENST00000558566.1_Silent_p.K62K	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	62					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		ATACCTTGGCCTTTAGGCCCA	0.562000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome		OREG0022621	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	88					0	0	0.592651	0	0
DGKZ	8525	broad.mit.edu	37	11	46389294	46389294	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:46389294G>A	ENST00000454345.1	+	4	1055	c.930G>A	c.(928-930)atG>atA	p.M310I	DGKZ_ENST00000527911.1_Missense_Mutation_p.M121I|DGKZ_ENST00000456247.2_Missense_Mutation_p.M121I|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.M121I|DGKZ_ENST00000395574.3_Missense_Mutation_p.M87I|DGKZ_ENST00000532868.2_Missense_Mutation_p.M125I|DGKZ_ENST00000343674.6_Missense_Mutation_p.M138I|DGKZ_ENST00000318201.8_Missense_Mutation_p.M121I|DGKZ_ENST00000528615.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	310					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TAGCCAGGATGCTGGTGAGTG	0.642000											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	18					0	0	0.278610	0	0
INPP5B	3633	broad.mit.edu	37	1	38352663	38352663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:38352663C>T	ENST00000373023.2	-	12	1361	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q	INPP5B_ENST00000373024.3_Missense_Mutation_p.R343Q|INPP5B_ENST00000373026.1_Missense_Mutation_p.R423Q|INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000458109.2_Missense_Mutation_p.R106Q|INPP5B_ENST00000373027.1_Missense_Mutation_p.R179Q	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	423					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCAACCAGTCGGATAAGCTT	0.453000													8	77					0	0	0.335167	0	0
PRKG2	5593	broad.mit.edu	37	4	82056396	82056396	+	Silent	SNP	T	T	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr4:82056396T>A	ENST00000395578.1	-	14	1805	c.1689A>T	c.(1687-1689)gcA>gcT	p.A563A	PRKG2_ENST00000264399.1_Silent_p.A563A|PRKG2_ENST00000418486.2_Silent_p.A534A|PRKG2_ENST00000545647.1_Silent_p.A143A|PRKG2_ENST00000509169.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	563	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GGTAATCAAATGCTTCTGTCA	0.388000													12	61					0	0	0.435327	0	0
MAP3K19	80122	broad.mit.edu	37	2	135756548	135756548	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:135756548G>C	ENST00000375845.3	-	5	364	c.334C>G	c.(334-336)Caa>Gaa	p.Q112E	MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q129E|MAP3K19_ENST00000392917.3_Missense_Mutation_p.Q112E|MAP3K19_ENST00000375844.3_Missense_Mutation_p.Q112E|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Missense_Mutation_p.Q112E	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GCCCATTCTTGAAGCGATGAG	0.443000													9	61					0	0	0.307466	0	0
CDKN2A	1029	broad.mit.edu	37	9	21970901	21970901	+	Missense_Mutation	SNP	C	C	T	rs45476696		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:21970901C>T	ENST00000497750.1	-	2	378	c.304G>A	c.(304-306)Ggt>Agt	p.G102S	CDKN2A_ENST00000446177.1_Splice_Site_p.E153_splice|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000498124.1_Splice_Site_p.E153_splice|CDKN2A_ENST00000578845.2_Splice_Site_p.D102_splice|CDKN2A_ENST00000494262.1_Splice_Site_p.D102_splice|CDKN2A_ENST00000304494.5_Splice_Site_p.D153_splice|CDKN2A_ENST00000479692.2_Splice_Site_p.V102_splice|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Splice_Site_p.D102_splice|CDKN2A_ENST00000579122.1_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(16)|p.D153N(1)|p.0(1)|p.E153K(1)|p.D153Y(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGTCCTCACCTGAGGGACCT	0.597000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	40					0	0	0.307466	0	0
UBR5	51366	broad.mit.edu	37	8	103291308	103291308	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:103291308G>A	ENST00000520539.1	-	43	6736	c.6130C>T	c.(6130-6132)Ctg>Ttg	p.L2044L	UBR5_ENST00000220959.4_Silent_p.L2044L|UBR5_ENST00000521922.1_Silent_p.L2038L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2044	Pro-rich.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCTTCAGCCAGAGGCACTTCA	0.433000													7	106					0	0	0.248553	0	0
RECQL4	9401	broad.mit.edu	37	8	145737627	145737627	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:145737627C>G	ENST00000428558.2	-	19	3177	c.3136G>C	c.(3136-3138)Gag>Cag	p.E1046Q	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	1046					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCCTTCTCCTCAGCGGTCAAG	0.637000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				10	42					0	0	0.335167	0	0
ASB18	401036	broad.mit.edu	37	2	237150090	237150090	+	Missense_Mutation	SNP	C	C	T	rs144206102	by1000genomes	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:237150090C>T	ENST00000330842.6	-	1	168	c.74G>A	c.(73-75)aGa>aAa	p.R25K	ASB18_ENST00000409749.3_Intron|AC079135.1_ENST00000415226.1_RNA			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	0					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GGACCCTGCTCTAGCTTGAGG	0.537000													3	25					0	0	0.115264	0	0
ZNF518A	9849	broad.mit.edu	37	10	97920007	97920007	+	RNA	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr10:97920007G>A	ENST00000534948.1	+	0	4785							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AGATGTCCGTGAAACATTTGG	0.388000													5	48					0	0	0.217242	0	0
MAP3K7	6885	broad.mit.edu	37	6	91226264	91226264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr6:91226264C>T	ENST00000369329.3	-	17	1938	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	MAP3K7_ENST00000369332.3_Missense_Mutation_p.E566K|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369320.1_Missense_Mutation_p.E247K|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369327.3_3'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	593					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	p.E566K(1)|p.E593K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGATGACCTCTAGTTGTTTT	0.378000													19	95					0	0	0.624587	0	0
ZNF750	79755	broad.mit.edu	37	17	80788944	80788944	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:80788944C>G	ENST00000269394.3	-	2	2220	c.1387G>C	c.(1387-1389)Gaa>Caa	p.E463Q	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.E64Q	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	463						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGTAGGCATTCTGTGCTTTTC	0.522000													29	216					0	0	0.706142	0	0
DNAJC6	9829	broad.mit.edu	37	1	65845131	65845131	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:65845131A>G	ENST00000395325.3	+	5	576	c.419A>G	c.(418-420)aAc>aGc	p.N140S	DNAJC6_ENST00000263441.7_Missense_Mutation_p.N127S|DNAJC6_ENST00000371069.4_Missense_Mutation_p.N197S	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	140	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AGTCTGCACAACCTTTTTGCT	0.453000													8	137					0	0	0.278610	0	0
SYT2	127833	broad.mit.edu	37	1	202569513	202569513	+	Silent	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:202569513G>C	ENST00000367267.1	-	7	1083	c.891C>G	c.(889-891)ctC>ctG	p.L297L	SYT2_ENST00000367268.4_Silent_p.L297L	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	297	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CCATCTTCTTGAGGTTCTTAG	0.617000											OREG0014101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	121					0	0	0.411799	0	0
CDKN2A	1029	broad.mit.edu	37	9	21970900	21970900	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:21970900C>T	ENST00000497750.1	-	2	379	c.305G>A	c.(304-306)gGt>gAt	p.G102D	CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000579122.1_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(12)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCAGTCCTCACCTGAGGGACC	0.597000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	40					0	0	0.307466	0	0
INTS4P1	285905	broad.mit.edu	37	7	64643382	64643382	+	RNA	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:64643382C>T	ENST00000587624.1	+	0	789																											AGAGGCTCTTCATGAACTCTT	0.383000													21	24					0	0	0.654019	0	0
SOGA1	140710	broad.mit.edu	37	20	35443718	35443718	+	Silent	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr20:35443718G>C	ENST00000237536.4	-	5	2468	c.2127C>G	c.(2125-2127)ctC>ctG	p.L709L	SOGA1_ENST00000357779.3_Silent_p.L471L|SOGA1_ENST00000279034.5_Silent_p.L471L|SOGA1_ENST00000456801.2_Silent_p.L312L	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	471								p.L709L(3)|p.L471L(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGGCATGGATGAGCTTGGTGT	0.637000													24	46					0	0	0.624587	0	0
ZBTB43	23099	broad.mit.edu	37	9	129595320	129595320	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:129595320G>C	ENST00000373464.4	+	3	796	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	ZBTB43_ENST00000373457.1_Missense_Mutation_p.E178Q|ZBTB43_ENST00000449886.1_Missense_Mutation_p.E178Q	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGAAAATGAAGAGGAGAGCAC	0.532000													7	64					0	0	0.248553	0	0
OR8B4	283162	broad.mit.edu	37	11	124294096	124294096	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:124294096G>C	ENST00000356130.3	-	1	693	c.672C>G	c.(670-672)atC>atG	p.I224M		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GAATACAGAGGATGTTGGAGA	0.458000													4	38					0	0	0.150653	0	0
FAT4	79633	broad.mit.edu	37	4	126238826	126238826	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr4:126238826C>G	ENST00000394329.3	+	1	1273	c.1260C>G	c.(1258-1260)atC>atG	p.I420M		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	420	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAGCCTAATCAAGGTGGCCA	0.607000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	30					0	0	0.248553	0	0
MED18	54797	broad.mit.edu	37	1	28657231	28657231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:28657231G>A	ENST00000373842.4	+	2	267	c.58G>A	c.(58-60)Gag>Aag	p.E20K	MED18_ENST00000398997.2_Missense_Mutation_p.E20K|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	20					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		TAACATGATGGAGTACCTGTT	0.483000													7	34					0	0	0.248553	0	0
SCIN	85477	broad.mit.edu	37	7	12691524	12691524	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:12691524C>T	ENST00000297029.5	+	15	2119	c.2018C>T	c.(2017-2019)tCt>tTt	p.S673F	SCIN_ENST00000519209.1_Missense_Mutation_p.S426F|SCIN_ENST00000445618.2_Missense_Mutation_p.S426F	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	673	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCTCTGAAGTCTGGTAAGCTC	0.368000													5	12					0	0	0.278610	0	0
ZNF214	7761	broad.mit.edu	37	11	7022446	7022446	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:7022446C>G	ENST00000278314.4	-	3	783	c.468G>C	c.(466-468)atG>atC	p.M156I	ZNF214_ENST00000536068.1_Missense_Mutation_p.M156I	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M156I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GTGAACCACTCATGTAGATTT	0.383000													35	124					0	0	0.769981	0	0
FMOD	2331	broad.mit.edu	37	1	203316668	203316668	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:203316668G>A	ENST00000354955.4	-	2	1194	c.731C>T	c.(730-732)tCa>tTa	p.S244L	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	244					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTCAAGAGCTGAGGGCAGCCC	0.587000													18	162					0	0	0.557998	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41099536	41099536	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:41099536C>G	ENST00000336455.5	+	1	105	c.50C>G	c.(49-51)tCa>tGa	p.S17*	ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000355341.4_5'UTR|ZFYVE19_ENST00000570108.1_Nonsense_Mutation_p.S17*|DNAJC17_ENST00000220496.4_Intron	NM_032850.4	NP_116239.3	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	0							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCAGACCTCTCAAGATCAGCC	0.622000													4	25					0	0	0.184627	0	0
SYNM	23336	broad.mit.edu	37	15	99672808	99672808	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:99672808G>A	ENST00000336292.6	+	5	4360	c.4240G>A	c.(4240-4242)Gaa>Aaa	p.E1414K	SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1415	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGAAACCTCTGAACACATTGC	0.527000													29	249					0	0	0.706142	0	0
FAT3	120114	broad.mit.edu	37	11	92577526	92577526	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:92577526C>A	ENST00000298047.6	+	18	11010	c.10993C>A	c.(10993-10995)Cac>Aac	p.H3665N	FAT3_ENST00000533797.1_5'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.H3665N|FAT3_ENST00000525166.1_Missense_Mutation_p.H3515N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3665					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGTGGGGCTGCACATGCATGG	0.587000										TCGA Ovarian(4;0.039)			4	80					0.00024832	0.00026368	0.150653	1	0
SCN3A	6328	broad.mit.edu	37	2	165949010	165949010	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:165949010C>G	ENST00000360093.3	-	27	5052	c.4561G>C	c.(4561-4563)Gat>Cat	p.D1521H	SCN3A_ENST00000540861.1_Missense_Mutation_p.D4H|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1521H|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1472H|SCN3A_ENST00000465043.1_5'UTR	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1521						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTACAAAATCAAAGACCATT	0.353000													16	56					0	0	0.479597	0	0
PAF1	54623	broad.mit.edu	37	19	39880720	39880720	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:39880720G>A	ENST00000221265.3	-	3	489	c.159C>T	c.(157-159)ttC>ttT	p.F53F	PAF1_ENST00000595564.1_Silent_p.F43F|PAF1_ENST00000221266.7_Silent_p.F43F	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	53					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TGTTCTGGTCGAAGGGGTAGG	0.532000													4	106					0	0	0.150653	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102508999	102508999	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:102508999C>T	ENST00000360184.4	+	69	12591	c.12427C>T	c.(12427-12429)Cgc>Tgc	p.R4143C	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4143	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCGTGCGGGCCGCATCTTTGT	0.582000													7	63					0	0	0.278610	0	0
NINJ2	4815	broad.mit.edu	37	12	675230	675230	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:675230G>A	ENST00000305108.4	-	2	566	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	NINJ2_ENST00000433832.2_Silent_p.L14L|NINJ2_ENST00000542920.1_Silent_p.L14L|NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000397265.3_Silent_p.L43L	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	50					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			ACCGCCTTCAGCCGCATGGCG	0.612000													12	43					0	0	0.387290	0	0
CTNND2	1501	broad.mit.edu	37	5	11364901	11364901	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:11364901G>A	ENST00000304623.8	-	8	1468	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	CTNND2_ENST00000511377.1_Missense_Mutation_p.R336C|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.R90C|CTNND2_ENST00000359640.2_Missense_Mutation_p.R427C|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	427					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGATAGACGCGGTCTTCATAG	0.622000													16	49					0	0	0.500413	0	0
HIP1	3092	broad.mit.edu	37	7	75192564	75192564	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:75192564C>T	ENST00000336926.6	-	10	833	c.807G>A	c.(805-807)ttG>ttA	p.L269L	HIP1_ENST00000434438.2_Silent_p.L269L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	269					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACAGATCTTTCAACCTAGGGG	0.602000			T	PDGFRB	CMML								6	65					0	0	0.217242	0	0
FARP2	9855	broad.mit.edu	37	2	242407683	242407683	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:242407683C>T	ENST00000264042.3	+	18	2192	c.2022C>T	c.(2020-2022)ctC>ctT	p.L674L		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	674	DH.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACTTGCCTCTCAACACGTTCC	0.567000													9	53					0	0	0.335167	0	0
OC90	729330	broad.mit.edu	37	8	133051056	133051056	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:133051056C>G	ENST00000262283.5	-	11	1296	c.1197G>C	c.(1195-1197)ttG>ttC	p.L399F	OC90_ENST00000254627.3_Missense_Mutation_p.L203F|OC90_ENST00000443356.2_Missense_Mutation_p.L203F|OC90_ENST00000603859.1_Missense_Mutation_p.L203F			Q02509	OC90_HUMAN	otoconin 90	203	Phospholipase A2-like 3.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GAAGTGTTGTCAAGTCTTCCT	0.527000													4	36					0	0	0.150653	0	0
PDK4	5166	broad.mit.edu	37	7	95224335	95224335	+	Splice_Site	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:95224335C>T	ENST00000005178.5	-	2	469	c.272_splice	c.e2+1	p.W91_splice		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	91					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CACCACTTACCAGCTTTTAAC	0.388000													16	125					0	0	0.520397	0	0
DICER1	23405	broad.mit.edu	37	14	95562276	95562276	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:95562276G>A	ENST00000526495.1	-	25	5272	c.4981C>T	c.(4981-4983)Cac>Tac	p.H1661Y	DICER1_ENST00000343455.3_Missense_Mutation_p.H1661Y|DICER1_ENST00000393063.1_Missense_Mutation_p.H1661Y|DICER1_ENST00000527414.1_Missense_Mutation_p.H1661Y|DICER1_ENST00000541352.1_Missense_Mutation_p.H1661Y|DICER1_ENST00000556045.1_Missense_Mutation_p.H559Y			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1661					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GATATAAGGTGATTCAGTGTT	0.378000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				20	126					0	0	0.575678	0	0
TP53BP1	7158	broad.mit.edu	37	15	43730581	43730581	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:43730581G>C	ENST00000263801.3	-	16	3369	c.3117C>G	c.(3115-3117)atC>atG	p.I1039M	TP53BP1_ENST00000450115.2_Missense_Mutation_p.I1044M|TP53BP1_ENST00000382044.4_Missense_Mutation_p.I1044M|TP53BP1_ENST00000382039.3_Missense_Mutation_p.I1044M	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1039					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGGCTTCACAGATACAGCTCA	0.398000								Other conserved DNA damage response genes					15	71					0	0	0.500413	0	0
LDHA	3939	broad.mit.edu	37	11	18422455	18422455	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:18422455C>T	ENST00000422447.3	+	4	589	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	LDHA_ENST00000542179.1_Missense_Mutation_p.R106C|LDHA_ENST00000396222.2_Missense_Mutation_p.R106C|LDHA_ENST00000540430.1_Missense_Mutation_p.R135C|LDHA_ENST00000430553.2_Intron|LDHA_ENST00000227157.4_Missense_Mutation_p.R106C|LDHA_ENST00000379412.5_Missense_Mutation_p.R106C	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	106					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	GGGAGAAAGCCGTCTTAATTT	0.413000													4	52					0	0	0.184627	0	0
BAI3	577	broad.mit.edu	37	6	69684692	69684692	+	Silent	SNP	G	G	T	rs139424513		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr6:69684692G>T	ENST00000370598.1	+	9	2384	c.1563G>T	c.(1561-1563)tcG>tcT	p.S521S		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	521					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCTGATGTCGATGGTGTGGA	0.413000													3	33					0.004672	0.00481216	0.115264	1	0
CYP4A22	284541	broad.mit.edu	37	1	47614372	47614372	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:47614372C>G	ENST00000371891.3	+	12	1494	c.1463C>G	c.(1462-1464)cCc>cGc	p.P488R	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P390R|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	488						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCAGGATCCCCATCCCCATG	0.557000													23	148					0	0	0.624587	0	0
LRRK2	120892	broad.mit.edu	37	12	40745387	40745387	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:40745387G>A	ENST00000298910.7	+	44	6486	c.6428G>A	c.(6427-6429)cGc>cAc	p.R2143H		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2143			R -> H (in PARK8).		activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.R2150H(1)|p.R2143H(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGACGAGACGCATTTTATTA	0.398000													13	53					0	0	0.457914	0	0
SMOC1	64093	broad.mit.edu	37	14	70418890	70418890	+	Silent	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:70418890C>G	ENST00000381280.4	+	2	388	c.135C>G	c.(133-135)ctC>ctG	p.L45L	SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Silent_p.L45L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	45	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGTGCAACCTCCACTGCTCCA	0.522000													26	94					0	0	0.681144	0	0
PRSS36	146547	broad.mit.edu	37	16	31151714	31151714	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr16:31151714G>A	ENST00000268281.4	-	14	2248	c.2190C>T	c.(2188-2190)tcC>tcT	p.S730S	PRSS36_ENST00000569305.1_Silent_p.S725S|PRSS36_ENST00000418068.2_Intron	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	730	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GTGTCAAGATGGAGACAGCAG	0.592000													6	63					0	0	0.248553	0	0
SNHG14	104472715	broad.mit.edu	37	15	25307553	25307553	+	RNA	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:25307553G>A	ENST00000549804.2	+	0	397				SNORD116-5_ENST00000384462.1_RNA																							TCATACCGTCGTTCTCATCAG	0.498000													10	90					0	0	0.335167	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228641	142228641	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:142228641G>A	ENST00000519067.1	-	4	1248	c.945C>T	c.(943-945)gcC>gcT	p.A315A	SLC45A4_ENST00000517878.1_Silent_p.A366A|SLC45A4_ENST00000024061.3_Silent_p.A315A|SLC45A4_ENST00000433583.2_Silent_p.A308A			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	366					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCTCCTTGGCGGCTTCCTTGA	0.622000													22	83					0	0	0.740014	0	0
NR6A1	2649	broad.mit.edu	37	9	127289143	127289143	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:127289143G>A	ENST00000487099.2	-	8	1273	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	NR6A1_ENST00000373584.3_Silent_p.L368L|NR6A1_ENST00000344523.4_Silent_p.L371L|NR6A1_ENST00000416460.2_Silent_p.L367L	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	372					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						AGAGGTAGATGAGCCGCTCGA	0.493000													11	146					0	0	0.361761	0	0
IL17RE	132014	broad.mit.edu	37	3	9945094	9945094	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:9945094C>A	ENST00000454190.2	+	2	231	c.146C>A	c.(145-147)aCt>aAt	p.T49N	IL17RE_ENST00000295980.3_Missense_Mutation_p.T49N|IL17RE_ENST00000421412.1_Missense_Mutation_p.T82N|IL17RE_ENST00000383814.3_Missense_Mutation_p.T49N	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	49						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GACAGTTTCACTGGTGAGTCG	0.512000													10	38					1.61879e-10	1.81234e-10	0.411799	1	0
DLC1	10395	broad.mit.edu	37	8	12957657	12957657	+	Missense_Mutation	SNP	C	C	T	rs140340878	byFrequency	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:12957657C>T	ENST00000276297.4	-	9	2598	c.2189G>A	c.(2188-2190)cGa>cAa	p.R730Q	DLC1_ENST00000512044.2_Missense_Mutation_p.R327Q|DLC1_ENST00000520226.1_Missense_Mutation_p.R219Q|DLC1_ENST00000358919.2_Missense_Mutation_p.R293Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	730					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTCCTCTTTCGTACCATGGG	0.612000													6	71					0	0	0.248553	0	0
SMYD3	64754	broad.mit.edu	37	1	246498710	246498710	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:246498710G>A	ENST00000490107.1	-	3	334	c.118C>T	c.(118-120)Cca>Tca	p.P40S	SMYD3_ENST00000403792.3_Missense_Mutation_p.P99S|SMYD3_ENST00000388985.4_Missense_Mutation_p.P99S|SMYD3_ENST00000541742.1_Missense_Mutation_p.P40S	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	99						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		ACGGAGTCTGGAGGATATCTG	0.408000													28	105					0	0	0.740014	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612251	79612251	+	RNA	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:79612251G>A	ENST00000328585.4	+	0	360				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCTCCCTGCTGGGGCTGCTGG	0.662000													19	73					0	0	0.557998	0	0
BCL6B	255877	broad.mit.edu	37	17	6930330	6930330	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:6930330C>A	ENST00000293805.5	+	8	1339	c.1247C>A	c.(1246-1248)aCc>aAc	p.T416N		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	416						nucleus	zinc ion binding			skin(1)	1						CCTTGCCCTACCTGCGGAACC	0.647000													3	62					0.000602214	0.000629727	0.184627	1	0
PRUNE2	158471	broad.mit.edu	37	9	79325493	79325493	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:79325493T>C	ENST00000428286.1	-	8	1820	c.620A>G	c.(619-621)cAt>cGt	p.H207R	PRUNE2_ENST00000376718.3_Missense_Mutation_p.H566R			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	566					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCCTCATCATGTTCCACAAG	0.473000													23	35					0	0	0.608945	0	0
CELSR2	1952	broad.mit.edu	37	1	109795151	109795151	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:109795151G>A	ENST00000271332.3	+	1	2511	c.2450G>A	c.(2449-2451)cGa>cAa	p.R817Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	817	Cadherin 7.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAGTTCCTGCGAGACTCCTAC	0.552000													10	79					0	0	0.335167	0	0
C17orf70	80233	broad.mit.edu	37	17	79517287	79517287	+	Silent	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:79517287G>T	ENST00000537152.1	-	3	1305	c.780C>A	c.(778-780)ccC>ccA	p.P260P	C17orf70_ENST00000327787.8_Silent_p.P411P	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	411					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CATGCGTCCTGGGAGACGCGG	0.607000													27	101					1.7367e-05	1.87309e-05	0.706142	1	0
TRIM61	391712	broad.mit.edu	37	4	165891361	165891361	+	Translation_Start_Site	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr4:165891361C>T	ENST00000329314.5	-	0	406					NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61							intracellular	zinc ion binding			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		TCTACTGCCACGAACACTTCA	0.418000													2	2					0	0	0.115264	0	0
TTC33	23548	broad.mit.edu	37	5	40747015	40747015	+	Missense_Mutation	SNP	C	C	T	rs142188985		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:40747015C>T	ENST00000337702.4	-	2	258	c.106G>A	c.(106-108)Gat>Aat	p.D36N	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	36							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTCCCTTCATCGTTGTCAACT	0.443000													3	32					0	0	0.184627	0	0
COL14A1	7373	broad.mit.edu	37	8	121174684	121174684	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:121174684G>A	ENST00000297848.3	+	4	495	c.225G>A	c.(223-225)ctG>ctA	p.L75L	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.L75L|COL14A1_ENST00000537875.1_Silent_p.L75L|COL14A1_ENST00000247781.3_Silent_p.L75L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	75	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTAACCAGCTGAATCTGCAGA	0.313000													5	57					0	0	0.217242	0	0
TOP3B	8940	broad.mit.edu	37	22	22313587	22313587	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr22:22313587C>G	ENST00000398793.2	-	16	2256	c.1822G>C	c.(1822-1824)Gag>Cag	p.E608Q	TOP3B_ENST00000357179.5_Missense_Mutation_p.E608Q	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	608					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AAAGACACCTCCATCAACTCA	0.602000													6	83					0	0	0.248553	0	0
ANKRD10	55608	broad.mit.edu	37	13	111558412	111558412	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr13:111558412G>A	ENST00000375758.5	-	3	557	c.423C>T	c.(421-423)atC>atT	p.I141I	ANKRD10_ENST00000489973.2_5'UTR|ANKRD10_ENST00000310847.4_Silent_p.I141I|ANKRD10_ENST00000267339.2_Silent_p.I141I			Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	141										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			CAAGGGCACTGATGCATTCTA	0.433000													3	14					0	0	0.184627	0	0
IGHV3-49	28423	broad.mit.edu	37	14	107013028	107013028	+	RNA	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:107013028G>A	ENST00000390625.2	-	0	346																											TTGAGATGGTGAATCTGCCTT	0.498000													25	94					0	0	0.681144	0	0
MUSK	4593	broad.mit.edu	37	9	113562840	113562840	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:113562840A>C	ENST00000416899.2	+	13	2284	c.2158A>C	c.(2158-2160)Acc>Ccc	p.T720P	MUSK_ENST00000189978.5_Missense_Mutation_p.T728P|MUSK_ENST00000374448.4_Missense_Mutation_p.T728P			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	728	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGATTTAGCCACCAGGAACTG	0.522000													81	323					0	0	0.870114	0	0
NEO1	4756	broad.mit.edu	37	15	73581580	73581580	+	Splice_Site	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:73581580G>A	ENST00000339362.5	+	26	4189		c.e26+1		NEO1_ENST00000560262.1_Splice_Site|NEO1_ENST00000261908.6_Splice_Site|NEO1_ENST00000558964.1_Splice_Site			Q92859	NEO1_HUMAN	neogenin 1						axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCACCCCAGCGTAAGTAGAAG	0.458000													4	27					0	0	0.150653	0	0
FREM2	341640	broad.mit.edu	37	13	39266631	39266631	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr13:39266631A>T	ENST00000280481.7	+	1	5366	c.5150A>T	c.(5149-5151)cAc>cTc	p.H1717L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1717					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAAGGCAACCACAGCATCACT	0.428000													8	91					0	0	0.307466	0	0
CASC1	55259	broad.mit.edu	37	12	25272139	25272139	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:25272139C>G	ENST00000354189.5	-	12	1545	c.1510G>C	c.(1510-1512)Gag>Cag	p.E504Q	CASC1_ENST00000537577.1_Missense_Mutation_p.E328Q|CASC1_ENST00000545133.1_Missense_Mutation_p.E381Q|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395987.3_Missense_Mutation_p.E446Q|CASC1_ENST00000320267.9_Missense_Mutation_p.E440Q|CASC1_ENST00000395990.2_Missense_Mutation_p.E400Q	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	440										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCATGAACCTCAAGTGTGACC	0.373000													5	68					0	0	0.184627	0	0
CNOT8	9337	broad.mit.edu	37	5	154250259	154250259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:154250259C>T	ENST00000517876.1	+	5	826	c.350C>T	c.(349-351)gCt>gTt	p.A117V	CNOT8_ENST00000521450.1_Missense_Mutation_p.A11V|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000521583.1_Missense_Mutation_p.A11V|CNOT8_ENST00000520671.1_Missense_Mutation_p.A11V|CNOT8_ENST00000523698.1_Missense_Mutation_p.A11V|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000403027.2_Missense_Mutation_p.A117V|CNOT8_ENST00000285896.6_Missense_Mutation_p.A117V			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	117					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GATCTCCTTGCTAACTCAGGA	0.418000													22	75					0	0	0.608945	0	0
KIF18B	146909	broad.mit.edu	37	17	43009571	43009571	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:43009571C>A	ENST00000587309.1	-	10	1301	c.1278G>T	c.(1276-1278)caG>caT	p.Q426H	KIF18B_ENST00000438933.2_Missense_Mutation_p.Q426H|KIF18B_ENST00000339151.4_Missense_Mutation_p.Q426H|KIF18B_ENST00000593135.1_Missense_Mutation_p.Q414H|KIF18B_ENST00000590129.1_Missense_Mutation_p.Q435H	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGGTGCAGGGCTGGCTGGGAG	0.657000													3	17					0.00024832	0.00026368	0.150653	1	0
BARHL1	56751	broad.mit.edu	37	9	135462894	135462894	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:135462894C>T	ENST00000263610.2	+	2	1258	c.645C>T	c.(643-645)ctC>ctT	p.L215L	BARHL1_ENST00000542090.1_Silent_p.L215L	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	215						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CCGCCTCGCTCAACCTCACCG	0.647000													4	22					0	0	0.150653	0	0
SEPT3	55964	broad.mit.edu	37	22	42377740	42377740	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr22:42377740C>G	ENST00000396425.3	+	2	233	c.102C>G	c.(100-102)atC>atG	p.I34M	SEPT3_ENST00000291236.11_Intron|CTA-250D10.19_ENST00000424613.1_RNA|SEPT3_ENST00000396426.3_Missense_Mutation_p.I34M|SEPT3_ENST00000328414.8_Missense_Mutation_p.I34M|SEPT3_ENST00000406029.1_Intron	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	34					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CCATGAGCATCAACTCCAACC	0.587000													4	41					0	0	0.150653	0	0
CPVL	54504	broad.mit.edu	37	7	29111497	29111497	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:29111497G>A	ENST00000409850.1	-	13	1402	c.756C>T	c.(754-756)ttC>ttT	p.F252F	CPVL_ENST00000396276.3_Silent_p.F252F|CPVL_ENST00000265394.5_Silent_p.F252F			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	252					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TTTGGTACAGGAATTCTGCAT	0.428000													40	63					0	0	0.853193	0	0
HTR6	3362	broad.mit.edu	37	1	19992662	19992662	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:19992662C>T	ENST00000289753.1	+	1	883	c.416C>T	c.(415-417)aCg>aTg	p.T139M		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	139					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CTGCGCATGACGCCCCTGCGT	0.687000													8	75					0	0	0.278610	0	0
MLXIP	22877	broad.mit.edu	37	12	122622100	122622100	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:122622100C>G	ENST00000319080.6	+	12	2249	c.2117C>G	c.(2116-2118)tCa>tGa	p.S706*	MLXIP_ENST00000538698.1_Nonsense_Mutation_p.S313*			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		AACAACTGCTCAGGGAAATCC	0.567000													13	136					0	0	0.435327	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711456	195711456	+	RNA	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:195711456G>A	ENST00000427841.1	-	0	491					NR_003264.2																						AGAGCCTCCCGCCCATCACCG	0.562000													9	52					0	0	0.335167	0	0
PODN	127435	broad.mit.edu	37	1	53537247	53537247	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:53537247G>A	ENST00000371500.3	+	5	781	c.440G>A	c.(439-441)cGg>cAg	p.R147Q	PODN_ENST00000471210.1_3'UTR|PODN_ENST00000395871.2_Intron|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Missense_Mutation_p.R166Q	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	118					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAGCTCTCCCGGCTGCACCGG	0.637000													4	16					0	0	0.184627	0	0
TPD52L1	7164	broad.mit.edu	37	6	125569434	125569434	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr6:125569434G>A	ENST00000534000.1	+	4	587	c.291G>A	c.(289-291)aaG>aaA	p.K97K	TPD52L1_ENST00000368402.5_Silent_p.K97K|TPD52L1_ENST00000532429.1_Silent_p.K68K|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000527711.1_Silent_p.K97K|TPD52L1_ENST00000368388.2_Silent_p.K97K|TPD52L1_ENST00000392482.2_Silent_p.K68K|TPD52L1_ENST00000534199.1_Silent_p.K68K|TPD52L1_ENST00000524679.1_Silent_p.K68K|TPD52L1_ENST00000528193.1_Silent_p.K97K|TPD52L1_ENST00000304877.13_Silent_p.K97K	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	97					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CTAGCTACAAGAAAACACATG	0.413000													5	17					0	0	0.217242	0	0
MRPL35	51318	broad.mit.edu	37	2	86433353	86433353	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:86433353C>T	ENST00000337109.4	+	2	202	c.168C>T	c.(166-168)tcC>tcT	p.S56S	MRPL35_ENST00000409180.1_Silent_p.S56S|MRPL35_ENST00000254644.8_Silent_p.S56S|MRPL35_ENST00000605125.1_Silent_p.S56S	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	56					translation	mitochondrial ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						TTGTTTCCTCCACTCCCAGAC	0.423000													20	127					0	0	0.592651	0	0
CAMTA1	23261	broad.mit.edu	37	1	7737774	7737774	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:7737774C>T	ENST00000303635.7	+	11	3102	c.2895C>T	c.(2893-2895)caC>caT	p.H965H	CAMTA1_ENST00000439411.2_Silent_p.H965H	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	965					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCTCCCAGCACGACTGGCTGT	0.557000			T	WWTR1	epitheliod hemangioendothelioma								19	66					0	0	0.557998	0	0
SEC61A2	55176	broad.mit.edu	37	10	12197928	12197928	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr10:12197928G>C	ENST00000379033.3	+	6	695	c.548G>C	c.(547-549)aGa>aCa	p.R183T	SEC61A2_ENST00000379020.4_Missense_Mutation_p.R205T|SEC61A2_ENST00000304267.8_Missense_Mutation_p.R205T|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Missense_Mutation_p.R205T	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	205						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				AACACTGGCAGAGGTACATCG	0.522000													15	83					0	0	0.500413	0	0
VAV2	7410	broad.mit.edu	37	9	136671217	136671217	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:136671217G>A	ENST00000371851.1	-	8	1132	c.807C>T	c.(805-807)ctC>ctT	p.L269L	VAV2_ENST00000406606.3_Silent_p.L269L|VAV2_ENST00000371850.3_Silent_p.L274L			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	274	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CCTTGAAATCGAGGAAGACCT	0.587000													4	36					0	0	0.184627	0	0
TP53	7157	broad.mit.edu	37	17	7579912	7579912	+	Translation_Start_Site	SNP	T	T	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:7579912T>C	ENST00000420246.2	-	2	133	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TP53_ENST00000455263.2_Start_Codon_SNP_p.M1V|TP53_ENST00000269305.4_Start_Codon_SNP_p.M1V|TP53_ENST00000359597.4_Start_Codon_SNP_p.M1V|TP53_ENST00000445888.2_Start_Codon_SNP_p.M1V|TP53_ENST00000413465.2_Start_Codon_SNP_p.M1V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	1	Interaction with HRMT1L2.|Transcription activation (acidic).				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCTCCTCCATGGCAGTGACC	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	18					0	0	0.307466	0	0
SLC25A32	81034	broad.mit.edu	37	8	104417026	104417026	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:104417026G>A	ENST00000297578.4	-	3	535	c.369C>T	c.(367-369)taC>taT	p.Y123Y	SLC25A32_ENST00000543107.1_Intron	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	123					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CTGAGACAAGGTATTCTGTTG	0.333000													6	52					0	0	0.278610	0	0
ADAM17	6868	broad.mit.edu	37	2	9676833	9676833	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:9676833C>T	ENST00000310823.3	-	3	537	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	ADAM17_ENST00000497134.1_Missense_Mutation_p.V119M	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	119					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TAACCAACCACGTGTCCAGTG	0.428000													7	57					0	0	0.278610	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589072	140589072	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:140589072A>T	ENST00000239450.2	+	1	782	c.593A>T	c.(592-594)aAg>aTg	p.K198M	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		198	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCTGGACAAGGCGCTGGAT	0.488000													14	56					0	0	0.479597	0	0
HDAC5	10014	broad.mit.edu	37	17	42155928	42155928	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:42155928G>A	ENST00000225983.6	-	26	3595	c.3272C>T	c.(3271-3273)gCc>gTc	p.A1091V	HDAC5_ENST00000586802.1_Missense_Mutation_p.A1090V|HDAC5_ENST00000336057.5_Missense_Mutation_p.A1005V|HDAC5_ENST00000393622.2_Missense_Mutation_p.A1090V			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	1090					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CGACAGCAAGGCCATGGCGCT	0.692000													16	143					0	0	0.592651	0	0
RUNX1T1	862	broad.mit.edu	37	8	93029589	93029589	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:93029589G>T	ENST00000523629.1	-	3	545	c.91C>A	c.(91-93)Cgt>Agt	p.R31S	RUNX1T1_ENST00000521553.1_5'UTR|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R31S|RUNX1T1_ENST00000522163.1_5'UTR|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R4S|RUNX1T1_ENST00000422361.2_5'UTR|RUNX1T1_ENST00000360348.2_5'UTR|RUNX1T1_ENST00000520724.1_5'UTR|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R42S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R4S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	31		Breakpoint for translocation to form AML1-MTG8 in AML-M2.			generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTCAGTACGATCTGGAGGA	0.448000													9	66					3.86212e-05	4.14373e-05	0.361761	1	0
FAM27L	284123	broad.mit.edu	37	17	21826393	21826393	+	RNA	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:21826393C>A	ENST00000426869.3	+	0	576					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		TCTGTCCTCCCTCTTACTCTG	0.547000													5	7					0.000602214	0.000629727	0.184627	1	0
GYPB	2994	broad.mit.edu	37	4	144920591	144920591	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr4:144920591G>C	ENST00000283126.7	-	3	203	c.148C>G	c.(148-150)Caa>Gaa	p.Q50E	GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000513128.1_Missense_Mutation_p.Q17E|GYPB_ENST00000502664.1_Missense_Mutation_p.Q50E|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000429670.2_Missense_Mutation_p.Q50E					glycophorin B (MNS blood group)											breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					TGGACAAGTTGTCCCGTTTCT	0.328000													5	6					0	0	0.184627	0	0
TCHH	7062	broad.mit.edu	37	1	152080820	152080820	+	Missense_Mutation	SNP	C	C	T	rs71585886		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:152080820C>T	ENST00000368804.1	-	2	4872	c.4873G>A	c.(4873-4875)Gaa>Aaa	p.E1625K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1625	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCAGCTGTTCGTCTTCGCGG	0.597000													14	99					0	0	0.435327	0	0
CNOT3	4849	broad.mit.edu	37	19	54656252	54656252	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:54656252G>T	ENST00000406403.1	+	14	3396	c.1793G>T	c.(1792-1794)gGt>gTt	p.G598V	CNOT3_ENST00000358389.3_Missense_Mutation_p.G417V|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.G598V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	598	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGTCGCTGGGTGTCTGTCCA	0.632000													8	83					3.09899e-07	3.43221e-07	0.307466	1	0
MINOS1	440574	broad.mit.edu	37	1	19950057	19950057	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:19950057C>G	ENST00000322753.6	+	3	258	c.202C>G	c.(202-204)Cta>Gta	p.L68V	MINOS1-NBL1_ENST00000602662.1_Intron|MINOS1_ENST00000486890.1_3'UTR	NM_001032363.3|NM_001204082.1|NM_001204083.1	NP_001027535.1|NP_001191011.1|NP_001191012.1	Q5TGZ0	CA151_HUMAN	mitochondrial inner membrane organizing system 1	68						integral to membrane|mitochondrion											TCCATATCTTCTACATGGAAA	0.388000													16	133					0	0	0.500413	0	0
PYDC1	260434	broad.mit.edu	37	16	31228221	31228221	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr16:31228221C>T	ENST00000302964.3	-	1	459	c.129G>A	c.(127-129)gcG>gcA	p.A43A	TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	43	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCTGCCCGAGCGCGCCCCGCG	0.647000													5	64					0	0	0.184627	0	0
KIAA1984	84960	broad.mit.edu	37	9	139701235	139701235	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:139701235C>T	ENST00000338005.6	+	12	1340	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L	KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	435										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCAACACCCTCGATTTGAACA	0.632000													4	80					0	0	0.184627	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148745675	148745675	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:148745675G>T	ENST00000514349.1	+	3	950	c.371G>T	c.(370-372)cGg>cTg	p.R124L	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.R214L			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	214					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGTCCTGCGGGCCAGCTAT	0.597000													10	35					0.000673444	0.000700654	0.361761	1	0
CTTN	2017	broad.mit.edu	37	11	70281210	70281210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:70281210G>T	ENST00000346329.3	+	17	1792	c.1484G>T	c.(1483-1485)gGg>gTg	p.G495V	CTTN_ENST00000376561.3_Missense_Mutation_p.G495V|CTTN_ENST00000538675.1_Missense_Mutation_p.G216V|CTTN_ENST00000301843.8_Missense_Mutation_p.G532V	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	532	SH3.			I -> Y (in Ref. 1; AAA58455).		cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGGTGGCGCGGGGTGTGCAAG	0.617000													17	62					0.160694	0.163876	0.520397	1	0
LHX8	431707	broad.mit.edu	37	1	75622625	75622625	+	Silent	SNP	T	T	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:75622625T>G	ENST00000294638.5	+	9	1522	c.858T>G	c.(856-858)ccT>ccG	p.P286P	LHX8_ENST00000356261.3_Silent_p.P276P	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	286						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ACGTCAGTCCTAATCACTCAT	0.512000													22	114					0	0	0.608945	0	0
ZNF418	147686	broad.mit.edu	37	19	58438294	58438294	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:58438294C>A	ENST00000396147.1	-	4	1546	c.1255G>T	c.(1255-1257)Ggt>Tgt	p.G419C	ZNF418_ENST00000425570.3_Missense_Mutation_p.G440C|ZNF418_ENST00000595830.1_Missense_Mutation_p.G419C|ZNF418_ENST00000599852.1_Missense_Mutation_p.G334C|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CCAGTGTGACCTCGCTGATGG	0.463000													31	151					6.00712e-18	6.83684e-18	0.760397	1	0
MIR4485	100616263	broad.mit.edu	37	MT	2620	2620	+	RNA	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chrM:2620G>A	ENST00000387347.2	+	0	950					NR_039705.1																						gttccttaaatagggacctgt	0.507000													4	26					0	0	0.184627	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73067756	73067756	+	Silent	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:73067756C>G	ENST00000263674.3	+	7	4193	c.3843C>G	c.(3841-3843)ctC>ctG	p.L1281L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1281					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TCCCACAGCTCCAGGCCCCTC	0.572000													4	60					0	0	0.278610	0	0
TYSND1	219743	broad.mit.edu	37	10	71902546	71902546	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr10:71902546G>C	ENST00000287078.6	-	3	1360	c.1361C>G	c.(1360-1362)tCa>tGa	p.S454*	TYSND1_ENST00000335494.5_Intron|TYSND1_ENST00000494143.1_5'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	454	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						AAGGATGCCTGAGGTCACCGA	0.642000													5	32					0	0	0.184627	0	0
SCG2	7857	broad.mit.edu	37	2	224463969	224463969	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:224463969G>T	ENST00000305409.2	-	2	264	c.32C>A	c.(31-33)gCa>gAa	p.A11E		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	11					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGACAGGGCTGCTCCAAGCCA	0.408000													6	56					0.217242	0.220453	0.217242	1	0
ZNF148	7707	broad.mit.edu	37	3	124998088	124998088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:124998088G>A	ENST00000360647.4	-	6	948	c.463C>T	c.(463-465)Ctt>Ttt	p.L155F	ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Missense_Mutation_p.L155F|ZNF148_ENST00000484491.1_Missense_Mutation_p.L155F|ZNF148_ENST00000492394.1_Missense_Mutation_p.L155F|ZNF148_ENST00000544464.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	155					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTTATTGTAAGGATCTAGTTC	0.308000													31	48					0	0	0.750413	0	0
FREM2	341640	broad.mit.edu	37	13	39430346	39430346	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr13:39430346T>A	ENST00000280481.7	+	12	7225	c.7009T>A	c.(7009-7011)Ttc>Atc	p.F2337I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2337	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGAGAGGCCTTCACTGTTCA	0.403000													7	66					0	0	0.248553	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531980	140531980	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:140531980G>A	ENST00000231136.1	+	1	2142	c.2142G>A	c.(2140-2142)agG>agA	p.R714R	PCDHB6_ENST00000543635.1_Silent_p.R578R	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		714					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTGCAGGAGGAGCAGGGCGG	0.662000													16	155					0	0	0.592651	0	0
TRBC2	28638	broad.mit.edu	37	7	142498971	142498971	+	RNA	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:142498971C>G	ENST00000466254.1	+	0	247																											CTGAGGGTCTCGGCCACCTTC	0.622000													11	82					0	0	0.387290	0	0
RNF17	56163	broad.mit.edu	37	13	25376549	25376549	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr13:25376549G>C	ENST00000255324.5	+	14	1841	c.1789G>C	c.(1789-1791)Gaa>Caa	p.E597Q	RNF17_ENST00000255325.5_Missense_Mutation_p.E598Q|RNF17_ENST00000381921.1_Missense_Mutation_p.E597Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	597					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGCTAAAGTGGAATTTTTGAA	0.333000													6	65					0	0	0.217242	0	0
KRT4	3851	broad.mit.edu	37	12	53207700	53207700	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:53207700C>T	ENST00000551956.1	-	1	635	c.143G>A	c.(142-144)gGc>gAc	p.G48D	KRT4_ENST00000458244.2_Missense_Mutation_p.G48D|KRT4_ENST00000293774.4_Missense_Mutation_p.G122D			B4DRS2	B4DRS2_HUMAN	keratin 4	48						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTTCTGCTGCCAAATCCCCC	0.587000													35	103					0	0	0.804634	0	0
MYO18B	84700	broad.mit.edu	37	22	26228956	26228956	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr22:26228956C>A	ENST00000335473.7	+	16	3302	c.3052C>A	c.(3052-3054)Ccc>Acc	p.P1018T	MYO18B_ENST00000536101.1_Missense_Mutation_p.P1018T|MYO18B_ENST00000407587.2_Missense_Mutation_p.P1018T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1018	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGATCAAAATCCCTCTCAGGT	0.502000													10	51					1.58986e-06	1.7514e-06	0.361761	1	0
BAZ2B	29994	broad.mit.edu	37	2	160241870	160241870	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:160241870G>C	ENST00000392783.2	-	23	3977	c.3482C>G	c.(3481-3483)gCt>gGt	p.A1161G	BAZ2B_ENST00000355831.2_Missense_Mutation_p.A1127G|BAZ2B_ENST00000392782.1_Missense_Mutation_p.A1125G|BAZ2B_ENST00000343439.5_Missense_Mutation_p.A1061G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTCTCCAAGAGCTGTTTTAGC	0.323000													4	46					0	0	0.184627	0	0
TGFBR2	7048	broad.mit.edu	37	3	30729875	30729875	+	Splice_Site	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:30729875G>A	ENST00000295754.5	+	6	1778		c.e6-1		TGFBR2_ENST00000359013.4_Splice_Site	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)						activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TTTCTTCACAGAAGTAAAAGA	0.512000													15	70					0	0	0.479597	0	0
GSDMD	79792	broad.mit.edu	37	8	144644225	144644225	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:144644225A>T	ENST00000526406.1	+	11	1803	c.920A>T	c.(919-921)gAg>gTg	p.E307V	GSDMD_ENST00000533063.1_Missense_Mutation_p.E355V|GSDMD_ENST00000262580.4_Missense_Mutation_p.E307V	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	307										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TTGGACAGAGAGCTGTGCCAG	0.677000													24	50					0	0	0.681144	0	0
COIL	8161	broad.mit.edu	37	17	55038285	55038285	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:55038285C>G	ENST00000240316.4	-	1	130	c.96G>C	c.(94-96)ttG>ttC	p.L32F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	32						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					GGCATCTGTTCAAGTCGACCA	0.587000											OREG0024594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	33					0	0	0.217242	0	0
C19orf18	147685	broad.mit.edu	37	19	58472888	58472888	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:58472888G>A	ENST00000314391.3	-	5	504	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	135						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		AGTGACTCGAGCTGTTGTCTT	0.443000													14	86					0	0	0.457914	0	0
NCOR1	9611	broad.mit.edu	37	17	15971267	15971267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:15971267C>T	ENST00000268712.3	-	32	4939	c.4682G>A	c.(4681-4683)cGg>cAg	p.R1561Q	NCOR1_ENST00000395851.1_Missense_Mutation_p.R1577Q|NCOR1_ENST00000395857.3_Missense_Mutation_p.R145Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1561	Interaction with C1D (By similarity).|Interaction with ETO.			R -> W (in Ref. 1; AAC33550).	cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGGTGGCTCCGATAAACCTC	0.512000													18	23					0	0	0.539581	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64698016	64698016	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:64698016G>A	ENST00000164133.2	+	8	1468	c.846G>A	c.(844-846)ctG>ctA	p.L282L		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	282					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TTCGCGTCCTGATCCCCCTGC	0.612000													7	77					0	0	0.248553	0	0
PVRL3	25945	broad.mit.edu	37	3	110845177	110845177	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:110845177T>C	ENST00000485303.1	+	5	1339	c.1064T>C	c.(1063-1065)aTt>aCt	p.I355T	PVRL3_ENST00000319792.3_Missense_Mutation_p.I355T|PVRL3_ENST00000493615.1_Missense_Mutation_p.I332T	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	355					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GTCATCTACATTTCAGGTAAG	0.299000													13	42					0	0	0.500413	0	0
ZFP69	339559	broad.mit.edu	37	1	40961662	40961662	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:40961662C>T	ENST00000372706.1	+	6	2518	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Silent_p.F504F					ZFP69 zinc finger protein																		GAAAAGCCTTCAGCTATAACT	0.388000													21	54					0	0	0.575678	0	0
DGKZ	8525	broad.mit.edu	37	11	46400012	46400012	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:46400012G>T	ENST00000454345.1	+	28	3069	c.2944G>T	c.(2944-2946)Gag>Tag	p.E982*	DGKZ_ENST00000527911.1_Nonsense_Mutation_p.E794*|DGKZ_ENST00000456247.2_Nonsense_Mutation_p.E793*|DGKZ_ENST00000543978.1_Nonsense_Mutation_p.E146*|DGKZ_ENST00000421244.2_Nonsense_Mutation_p.E794*|DGKZ_ENST00000395574.3_Nonsense_Mutation_p.E760*|DGKZ_ENST00000532868.2_Nonsense_Mutation_p.E798*|DGKZ_ENST00000343674.6_Nonsense_Mutation_p.E810*|DGKZ_ENST00000318201.8_Nonsense_Mutation_p.E771*|DGKZ_ENST00000528615.1_Nonsense_Mutation_p.E572*	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	982					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TGCAGGTGAAGAGCTGATTGA	0.622000													9	59					3.07112e-06	3.34736e-06	0.387290	1	0
RGPD4	285190	broad.mit.edu	37	2	108475958	108475958	+	Missense_Mutation	SNP	A	A	G	rs142985549	by1000genomes	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:108475958A>G	ENST00000408999.3	+	11	1659	c.1582A>G	c.(1582-1584)Aga>Gga	p.R528G	RGPD4_ENST00000354986.4_Missense_Mutation_p.R528G	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	528					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTGTACAGAAAGACAAAAATC	0.393000													3	92					0	0	0.150653	0	0
TCL6	27004	broad.mit.edu	37	14	96134710	96134710	+	RNA	SNP	T	T	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:96134710T>C	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CACAGCAGCATGAAAAACAGG	0.512000			T	TRA@	T-ALL								16	65					0	0	0.500413	0	0
MAP6D1	79929	broad.mit.edu	37	3	183535851	183535851	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:183535851C>T	ENST00000318631.3	-	2	480	c.450G>A	c.(448-450)aaG>aaA	p.K150K	MAP6D1_ENST00000431348.1_Silent_p.K150K	NM_024871.2	NP_079147.1	Q9H9H5	MA6D1_HUMAN	MAP6 domain containing 1	150						cytoskeleton				endometrium(1)|lung(1)	2	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;5.15e-42)|Epithelial(37;4.29e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTGGTTTTGTCTTTGTGGATC	0.582000													11	112					0	0	0.361761	0	0
ZNF615	284370	broad.mit.edu	37	19	52506950	52506950	+	Splice_Site	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:52506950C>T	ENST00000602063.1	-	3	364	c.15_splice	c.e3+1	p.Q5_splice	ZNF615_ENST00000598071.1_Splice_Site_p.Q5_splice|ZNF615_ENST00000597747.1_Splice_Site_p.Q5_splice|ZNF615_ENST00000391795.3_Intron|ZNF615_ENST00000376716.5_Splice_Site_p.Q5_splice|ZNF615_ENST00000594083.1_Splice_Site_p.Q5_splice			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CAAAAGTCACCTGGGCCTGCA	0.333000													6	49					0	0	0.278610	0	0
TUB	7275	broad.mit.edu	37	11	8118955	8118955	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:8118955C>T	ENST00000305253.4	+	8	1274	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	TUB_ENST00000299506.2_Missense_Mutation_p.R290C|TUB_ENST00000534099.1_Missense_Mutation_p.R296C	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	290					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GCACCTGGACCGTGAGGATGG	0.542000													11	92					0	0	0.387290	0	0
ATAD3A	55210	broad.mit.edu	37	1	1455561	1455561	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:1455561G>A	ENST00000378755.5	+	6	793	c.699G>A	c.(697-699)gaG>gaA	p.E233E	ATAD3A_ENST00000536055.1_Silent_p.E106E|ATAD3A_ENST00000378756.3_Silent_p.E185E	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	233							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		ACAAGAATGAGATGCTGCGAG	0.687000													3	24					0	0	0.150653	0	0
FAM73B	84895	broad.mit.edu	37	9	131830488	131830488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:131830488G>A	ENST00000358369.4	+	13	1507	c.1281G>A	c.(1279-1281)atG>atA	p.M427I	FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	427						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						TGGTATGCATGAGCTTCTTCG	0.647000													33	151					0	0	0.796494	0	0
SMG6	23293	broad.mit.edu	37	17	1972199	1972199	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:1972199C>T	ENST00000544865.1	-	16	4125	c.3615G>A	c.(3613-3615)atG>atA	p.M1205I	SMG6_ENST00000354901.4_Missense_Mutation_p.M328I|SMG6_ENST00000536871.2_Missense_Mutation_p.M328I|SMG6_ENST00000263073.5_Missense_Mutation_p.M1236I|SMG6_ENST00000573166.1_5'UTR			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1236					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCATCTGCCTCATCTGACTGT	0.592000													5	21					0	0	0.184627	0	0
PHEX	5251	broad.mit.edu	37	X	22095598	22095598	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chrX:22095598G>A	ENST00000379374.4	+	5	1006	c.441G>A	c.(439-441)gcG>gcA	p.A147A	PHEX_ENST00000537599.1_Silent_p.A147A|PHEX_ENST00000535894.1_Silent_p.A50A	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	147					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	p.A147A(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTTCAGAAGCGATTGAAAAAG	0.438000													25	59					0	0	0.639603	0	0
LRRC37A	9884	broad.mit.edu	37	17	44408471	44408471	+	Silent	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:44408471C>A	ENST00000320254.5	+	9	3831	c.3828C>A	c.(3826-3828)acC>acA	p.T1276T	ARL17B_ENST00000570618.1_Intron|ARL17B_ENST00000575960.1_Intron|ARL17B_ENST00000575698.1_Intron|LRRC37A_ENST00000496930.1_Silent_p.T314T|LRRC37A_ENST00000393465.3_Silent_p.T1276T|ARL17B_ENST00000434041.2_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1276						integral to membrane				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AAGACTTAACCCACGCTATTT	0.458000													23	69					0.000295444	0.00031211	0.624587	1	0
ZFYVE1	53349	broad.mit.edu	37	14	73448574	73448574	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:73448574G>A	ENST00000556143.1	-	5	1953	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	ZFYVE1_ENST00000555072.1_5'UTR|ZFYVE1_ENST00000553891.1_Silent_p.I411I|ZFYVE1_ENST00000394207.2_5'UTR|ZFYVE1_ENST00000318876.5_Silent_p.I411I	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	411						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGTCATCGGGGATCTCACCGC	0.577000													5	79					0	0	0.217242	0	0
IGSF9B	22997	broad.mit.edu	37	11	133789939	133789939	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:133789939G>A	ENST00000321016.8	-	18	3911	c.3681C>T	c.(3679-3681)ggC>ggT	p.G1227G	IGSF9B_ENST00000533871.2_Silent_p.G1227G			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1227	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTGCAGGAGGCCCGGGCGAG	0.687000													10	36					0	0	0.361761	0	0
CNGA4	1262	broad.mit.edu	37	11	6261477	6261477	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:6261477C>T	ENST00000379936.2	+	4	568	c.453C>T	c.(451-453)ttC>ttT	p.F151F	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	151					response to stimulus|sensory perception of smell		cAMP binding	p.F151F(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCGCCTCTTCGAGGCCTTCG	0.592000													5	165					0	0	0.184627	0	0
ZNF358	140467	broad.mit.edu	37	19	7584186	7584186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:7584186G>A	ENST00000597229.1	+	2	228	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	ZNF358_ENST00000394341.2_Missense_Mutation_p.E20K|CTD-2207O23.12_ENST00000599312.1_3'UTR	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	20					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						ACCCGTTTATGAAGAGCTCGA	0.577000													10	109					0	0	0.361761	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144712	25144712	+	RNA	SNP	A	A	C	rs71218558	by1000genomes	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr13:25144712A>C	ENST00000453498.1	+	0	253																											TGTGTTTAACACAGCCCCTGC	0.393000													4	24					0	0	0.217242	0	0
DDB2	1643	broad.mit.edu	37	11	47256845	47256845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:47256845G>A	ENST00000256996.4	+	7	1100	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	DDB2_ENST00000378601.3_Missense_Mutation_p.G243S|DDB2_ENST00000378603.3_Missense_Mutation_p.R238Q|DDB2_ENST00000378600.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	302					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GATGGAGCCCGGCTCCTGACC	0.612000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				10	131					0	0	0.361761	0	0
ROBO2	6092	broad.mit.edu	37	3	77666731	77666731	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:77666731G>C	ENST00000461745.1	+	22	4261	c.3361G>C	c.(3361-3363)Gaa>Caa	p.E1121Q	ROBO2_ENST00000487694.3_Missense_Mutation_p.E1137Q|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.E1121Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1121					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCTGGAAGATGAACTGGAAGA	0.458000													16	55					0	0	0.520397	0	0
FUBP1	8880	broad.mit.edu	37	1	78444669	78444676	+	Frame_Shift_Del	DEL	ACTGTTGA	ACTGTTGA	-	rs139086388	byFrequency	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:78444669_78444676delACTGTTGA	ENST00000370767.1	-	1	100_107	c.13_20delTCAACAGT	c.(13-21)gfs	p.STV5fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.STV5fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.STV5fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	5					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGGGGGAGGCACTGTTGAATAGTCTGCC	0.572			"""F, N"""		oligodendroglioma								15	49	---	---	---	---					
BSN	8927	broad.mit.edu	37	3	49688230	49688231	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:49688230_49688231insC	ENST00000296452.4	+	4	1818_1819	c.1704_1705insC	c.(1702-1707)ctctgcfs	p.C569fs		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	569					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGGCCCCCTGCCTGCCAAGGC	0.678													7	162	---	---	---	---					
TAF9	6880	broad.mit.edu	37	5	68660786	68660806	+	In_Frame_Del	DEL	TCATCATCATCATCATCGTCA	TCATCATCATCATCATCGTCA	-	rs149295876		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:68660786_68660806delTCATCATCATCATCATCGTCA	ENST00000328663.4	-	3	1225_1245	c.759_779delTGACGATGATGATGATGATGA	c.(757-780)gac>ga	p.DDDDDDDD253del	TAF9_ENST00000217893.5_In_Frame_Del_p.DDDDDDDD253del|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_In_Frame_Del_p.DDDDDDDD253del	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	57						Cajal body	adenylate kinase activity|ATP binding|protein binding	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		attatcatagtcatcatcatcatcatcgtcatcatcatcat	0.330													7	82	---	---	---	---					
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs34838882	by1000genomes	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(157-162)gcccgc>gcGCCccgc	p.53_54AR>APR	KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	53	Poly-Ala.					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)		CTGCAGCCGCTGCCGCCGCCGC	0.703													4	8	---	---	---	---					
HIPK3	10114	broad.mit.edu	37	11	33375092	33375093	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:33375092_33375093insC	ENST00000303296.4	+	17	3931_3932	c.3626_3627insC	c.(3625-3627)cagfs	p.Q1209fs	HIPK3_ENST00000379016.3_Frame_Shift_Ins_p.Q1188fs|HIPK3_ENST00000456517.1_Frame_Shift_Ins_p.Q1188fs|HIPK3_ENST00000525975.1_Frame_Shift_Ins_p.Q1188fs	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1209					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CCAACAAAACTCAGCCAGTATC	0.366													9	66	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328525	48328525	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:48328525delC	ENST00000319988.1	+	1	751	c.751delC	c.(751-753)ccfs	p.P252fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GGTTCTCATGCCCCCCATGTT	0.483													27	138	---	---	---	---					
C12orf52	84934	broad.mit.edu	37	12	113629261	113629262	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:113629261_113629262insT	ENST00000548278.1	+	4	1141_1142	c.449_450insT	c.(448-450)gagfs	p.E150fs	C12orf52_ENST00000549621.1_Frame_Shift_Ins_p.E150fs|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Frame_Shift_Ins_p.E174fs	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	150	Interaction with RBPJ/RBPSUH.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						ACCCCCAGGGGTAGCCACTCGC	0.678													8	48	---	---	---	---					
SRP14-AS1	100131089	broad.mit.edu	37	15	40342923	40342923	+	RNA	DEL	G	G	-			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:40342923delG	ENST00000504245.1	+	0	247					NR_040060.1																						tgtgtagtgtggggggggttt	0.602													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578506	7578514	+	In_Frame_Del	DEL	GGCAGGTCT	GGCAGGTCT	-			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:7578506_7578514delGGCAGGTCT	ENST00000420246.2	-	5	548_556	c.416_424delAGACCTGCC	c.(415-426)act>a	p.KTCP139del	TP53_ENST00000413465.2_In_Frame_Del_p.KTCP139del|TP53_ENST00000445888.2_In_Frame_Del_p.KTCP139del|TP53_ENST00000455263.2_In_Frame_Del_p.KTCP139del|TP53_ENST00000359597.4_In_Frame_Del_p.KTCP139del|TP53_ENST00000269305.4_In_Frame_Del_p.KTCP139del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	139	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141Y(79)|p.C141R(13)|p.C141W(13)|p.T140I(12)|p.C141*(11)|p.K139N(9)|p.0?(8)|p.K139K(7)|p.T140T(6)|p.C9Y(5)|p.C48Y(5)|p.C141S(5)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.C141F(4)|p.K139fs*9(3)|p.C135fs*9(3)|p.K139_T140delKT(3)|p.C141fs*29(3)|p.K139R(2)|p.K139fs*31(2)|p.P142F(2)|p.P142A(2)|p.P142T(2)|p.P142S(2)|p.N131fs*27(2)|p.P142fs*28(2)|p.C141fs*8(2)|p.K139T(1)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.K7_T8delKT(1)|p.T140fs*9(1)|p.K46_T47delKT(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9S(1)|p.C9W(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.K139fs*10(1)|p.T140N(1)|p.C48S(1)|p.C48R(1)|p.C48W(1)|p.C42fs*9(1)|p.C9R(1)|p.C135_T140delCQLAKT(1)|p.Q136_K139delQLAK(1)|p.C141A(1)|p.C141G(1)|p.C141_P142insXX(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.C3fs*9(1)|p.T140fs*28(1)|p.T140fs*30(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGCTGCACAGGGCAGGTCTTGGCCAGTTG	0.569		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	44	---	---	---	---					
FAM83G	644815	broad.mit.edu	37	17	18874924	18874925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:18874924_18874925insC	ENST00000388995.6	-	6	2442_2443	c.2219_2220insG	c.(2218-2220)gccfs	p.A740fs	FAM83G_ENST00000345041.4_Frame_Shift_Ins_p.A740fs|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Frame_Shift_Ins_p.A740fs|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	740										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AGTGGTGGGGGCCAGCCATGGC	0.653													11	101	---	---	---	---					
LINC00854	100874261	broad.mit.edu	37	17	41381913	41381914	+	RNA	INS	-	-	T	rs11403368		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:41381913_41381914insT	ENST00000433702.2	-	0	14					NR_047479.1																						accctgatctatcatcgggagg	0.550													6	13	---	---	---	---					
G6PC3	92579	broad.mit.edu	37	17	42153275	42153275	+	Frame_Shift_Del	DEL	A	A	-	rs34019455		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:42153275delA	ENST00000269097.4	+	6	1136	c.905delA	c.(904-906)ccfs	p.H302fs		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	302					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGGCTGGGCCACCCCCCTCAG	0.612													8	123	---	---	---	---					
LOC146880	146880	broad.mit.edu	37	17	62757842	62757843	+	RNA	INS	-	-	A	rs79383345		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:62757842_62757843insA	ENST00000400873.3	-	0	1605					NR_026899.1																						gactccgtctcaaaaaaaaaaa	0.416													3	5	---	---	---	---					
CACNA1A	773	broad.mit.edu	37	19	13319692	13319694	+	In_Frame_Del	DEL	GAT	GAT	-	rs16051	by1000genomes	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:13319692_13319694delGAT	ENST00000360228.5	-	46	6655_6657	c.6656_6658delATC	c.(6655-6660)ccc>c	p.HP2219del	CACNA1A_ENST00000573710.2_In_Frame_Del_p.HP2220del	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2220	Poly-His.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGGGGCGGGGGAtggtggtggtg	0.734													3	6	---	---	---	---