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
CEACAM7	1087	broad.mit.edu	37	19	42187829	42187829	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr19:42187829T>C	ENST00000006724.3	-	3	794	c.593A>G	c.(592-594)aAc>aGc	p.N198S	CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000401731.1_Missense_Mutation_p.N198S	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	198	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GAGGGTCCTGTTGTCAGTGGA	0.527000													15	144					0	0	1	0	0
PIK3R3	8503	broad.mit.edu	37	1	46527681	46527681	+	Silent	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:46527681C>T	ENST00000262741.5	-	6	1373	c.684G>A	c.(682-684)gaG>gaA	p.E228E	PIK3R3_ENST00000420542.1_Silent_p.E228E|PIK3R3_ENST00000354242.4_Silent_p.E228E|PIK3R3_ENST00000540385.1_Silent_p.E274E|PIK3R3_ENST00000423209.1_Silent_p.E228E|PIK3R3_ENST00000372006.1_Silent_p.E228E|PIK3R3_ENST00000340332.6_Silent_p.E192E	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	228					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TGTGACACTGCTCTTCAAATA	0.358000													17	123					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45399594	45399594	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr15:45399594T>C	ENST00000389039.6	-	14	2027	c.1642A>G	c.(1642-1644)Atc>Gtc	p.I548V	DUOX2_ENST00000603300.1_Missense_Mutation_p.I548V			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	548	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCAATGTTGATAACAGCGACC	0.522000													34	100					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	63					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26304380	26304380	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr22:26304380G>A	ENST00000335473.7	+	32	5490	c.5240G>A	c.(5239-5241)cGt>cAt	p.R1747H	MYO18B_ENST00000407587.2_Missense_Mutation_p.R1748H|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1747H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1747	Gln-rich.|Tail.					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						GAGGATGTCCGTCAGTCCTGC	0.602000													3	9					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132159947	132159947	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chrX:132159947G>T	ENST00000511190.1	-	6	2771	c.2302C>A	c.(2302-2304)Cac>Aac	p.H768N	USP26_ENST00000406273.1_Missense_Mutation_p.H768N|USP26_ENST00000370832.1_Missense_Mutation_p.H768N	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	768					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTCTTTGTGTGCCCCTGGGTG	0.463000													7	60					0.248553	0.248553	1	1	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			14	32					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103234271	103234271	+	Missense_Mutation	SNP	G	G	A	rs5030858	byFrequency	TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:103234271G>A	ENST00000553106.1	-	12	1694	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	PAH_ENST00000307000.2_Missense_Mutation_p.R403W	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	408			R -> Q (in PKU; haplotypes 4,12).|R -> W (in PKU; haplotypes 1,2,4,5,13,34, 41,44; most common mutation).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GAGAAGGGCCGAGGTATTGTG	0.458000													21	76					0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54137875	54137875	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr19:54137875A>G	ENST00000376650.1	+	2	170	c.119A>G	c.(118-120)tAc>tGc	p.Y40C		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	40						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GAGAACCCATACCCAAACCCC	0.443000													15	90					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131861901	131861901	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr8:131861901C>T	ENST00000286355.5	-	10	4451	c.2359G>A	c.(2359-2361)Gtc>Atc	p.V787I	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	787					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGATGATGACGTTCCGGGCC	0.463000										HNSCC(32;0.087)			13	85					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000													5	53					0	0	1	0	0
GPR87	0	broad.mit.edu	37	3	151012973	151012973	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:151012973G>T	ENST00000260843.4	-	3	525	c.61C>A	c.(61-63)Cac>Aac	p.H21N	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	21						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTGAATTGTGACTCTCTTGG	0.488000													15	64					0.00316338	0.00332155	1	1	0
CTNNB1	1499	broad.mit.edu	37	3	41268787	41268787	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:41268787G>A	ENST00000349496.5	+	7	1305	c.1025G>A	c.(1024-1026)aGa>aAa	p.R342K	CTNNB1_ENST00000405570.1_Missense_Mutation_p.R342K|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R342K|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R335K|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R342K	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	342					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ACCACAAGCAGAGTGCTGAAG	0.408000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				9	70					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34003036	34003036	+	Splice_Site	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:34003036C>T	ENST00000373381.4	-	61	9981	c.9805_splice	c.e61+1	p.D3269_splice		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3247						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACCTCTCACCTATGCAGCTG	0.582000													5	152					0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1016153	1016153	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr4:1016153C>T	ENST00000398484.2	+	4	822	c.242C>T	c.(241-243)cCg>cTg	p.P81L	FGFRL1_ENST00000264748.6_Missense_Mutation_p.P81L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.P81L|FGFRL1_ENST00000510644.1_Missense_Mutation_p.P81L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	81	Ig-like C2-type 1.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCGTGCTGCCGCAGGGGCTG	0.687000													7	22					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47755173	47755173	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:47755173A>T	ENST00000360380.3	-	10	1320	c.957T>A	c.(955-957)tgT>tgA	p.C319*	STIL_ENST00000396221.2_Nonsense_Mutation_p.C319*|STIL_ENST00000243182.6_Nonsense_Mutation_p.C319*|STIL_ENST00000371877.3_Nonsense_Mutation_p.C319*|STIL_ENST00000337817.5_Nonsense_Mutation_p.C319*			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	319					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCTTGCCATCACAAGGGAAGC	0.353000													9	32					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49391578	49391578	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:49391578C>T	ENST00000421952.2	-	2	1102	c.1081G>A	c.(1081-1083)Gct>Act	p.A361T		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	361	Interaction with ACTN1.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GATCTGGGAGCGGGATGCGGG	0.607000													12	46					0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144732272	144732272	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr8:144732272G>T	ENST00000501748.2	+	1	319	c.230G>T	c.(229-231)gGc>gTc	p.G77V	ZNF623_ENST00000526926.1_Missense_Mutation_p.G37V|ZNF623_ENST00000458270.2_Missense_Mutation_p.G37V	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGACAGGGGCTGCAAGCAG	0.547000													33	73					3.62531e-18	4.00692e-18	1	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54903702	54903702	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:54903702G>A	ENST00000293373.6	+	7	747	c.668G>A	c.(667-669)cGc>cAc	p.R223H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R173H|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	223					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.R223H(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GAGCAGTGGCGCAGTGCCCAA	0.512000													6	146					0	0	1	0	0
BPNT1	10380	broad.mit.edu	37	1	220253161	220253161	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:220253161G>A	ENST00000469520.2	-	3	477	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	BPNT1_ENST00000414869.2_Missense_Mutation_p.R10W|BPNT1_ENST00000354807.3_Missense_Mutation_p.R10W|BPNT1_ENST00000322067.7_Missense_Mutation_p.R10W|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000544404.1_Intron			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	10					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		GCTACCAACCGCATCAACACA	0.398000													6	59					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557000													4	10					0	0	1	0	0
MT1E	4493	broad.mit.edu	37	16	56659784	56659784	+	Silent	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr16:56659784C>T	ENST00000330439.6	+	1	75	c.21C>T	c.(19-21)tgC>tgT	p.C7C	MT1E_ENST00000568293.1_Silent_p.C7C|MT1E_ENST00000306061.6_Silent_p.C7C			P04732	MT1E_HUMAN	metallothionein 1E	7	Beta.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										ACTGCTCTTGCGCCACTGGTA	0.547000													4	134					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30068924	30068924	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr14:30068924T>C	ENST00000331968.5	-	14	2234	c.2005A>G	c.(2005-2007)Atg>Gtg	p.M669V	PRKD1_ENST00000415220.2_Missense_Mutation_p.M677V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	669	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GACAAGATCATTTCCAGCATG	0.378000													5	76					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523910	24523910	+	Silent	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr20:24523910G>A	ENST00000376862.3	+	2	810	c.177G>A	c.(175-177)ccG>ccA	p.P59P		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	59					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCACAGTGCCGGCCAGCCTGG	0.627000													5	76					0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64706363	64706363	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr15:64706363C>T	ENST00000261884.3	+	8	1183	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	375					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTCTGAAGAGCCTTTGGGAGT	0.448000													8	67					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													4	41					0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40776809	40776809	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:40776809C>A	ENST00000372748.3	-	12	682	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	196	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCGCGTTTGCCCGCATGCCCC	0.617000													14	58					0.00244969	0.00261578	1	1	0
ST5	6764	broad.mit.edu	37	11	8737335	8737335	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr11:8737335G>A	ENST00000534127.1	-	9	2045	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C	ST5_ENST00000357665.1_Missense_Mutation_p.R554C|ST5_ENST00000313726.6_Missense_Mutation_p.R554C|ST5_ENST00000530438.1_Missense_Mutation_p.R134C|ST5_ENST00000530991.1_Missense_Mutation_p.R26C|ST5_ENST00000526757.1_Missense_Mutation_p.R134C|ST5_ENST00000526099.1_Missense_Mutation_p.R67C	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	554					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTCCCACTGCGCAGGGACTGG	0.622000													7	111					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24432816	24432816	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr2:24432816C>A	ENST00000355123.4	-	35	4787	c.4344G>T	c.(4342-4344)aaG>aaT	p.K1448N	ITSN2_ENST00000361999.3_Missense_Mutation_p.K1421N	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1448	PH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGCAGTTCCTTGTTGCTCT	0.453000													4	192					0.00909568	0.0093939	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77415276	77415276	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr9:77415276G>A	ENST00000451710.3	-	17	2369	c.2132C>T	c.(2131-2133)gCc>gTc	p.A711V	TRPM6_ENST00000449912.2_Missense_Mutation_p.A706V|TRPM6_ENST00000376864.4_Missense_Mutation_p.A711V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.A706V|TRPM6_ENST00000360774.1_Missense_Mutation_p.A711V			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	711					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCCCGACACGGCCAGTTTAAG	0.493000													4	88					0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773472	35773472	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:35773472G>A	ENST00000360215.1	+	1	402	c.25G>A	c.(25-27)Gag>Aag	p.E9K	LHFPL5_ENST00000373853.1_Missense_Mutation_p.E9K	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	9						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GCCGGCCCAGGAGGCAGCCAA	0.612000													13	75					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	38					0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52939178	52939178	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:52939178C>T	ENST00000394752.3	-	21	2957	c.2575G>A	c.(2575-2577)Gct>Act	p.A859T	SFMBT1_ENST00000358080.2_Missense_Mutation_p.A859T|SFMBT1_ENST00000394750.1_Missense_Mutation_p.A859T|SFMBT1_ENST00000296295.6_Missense_Mutation_p.A816T	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	859	SAM.				regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TCATAAAAAGCAAACTTGATC	0.453000													11	52					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152048836	152048836	+	Silent	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr4:152048836C>T	ENST00000409598.4	-	19	3288	c.2121G>A	c.(2119-2121)ccG>ccA	p.P707P	SH3D19_ENST00000455740.1_Silent_p.P707P|SH3D19_ENST00000424281.1_Silent_p.P671P|SH3D19_ENST00000304527.4_Silent_p.P730P|SH3D19_ENST00000409252.2_Silent_p.P730P|SH3D19_ENST00000427414.2_Silent_p.P671P|SH3D19_ENST00000514152.1_Silent_p.P707P			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	730	SH3 4.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TCCTCCCCTTCGGTACTATGG	0.363000													5	33					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157559034	157559034	+	Silent	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:157559034G>A	ENST00000271532.1	-	3	402	c.267C>T	c.(265-267)ggC>ggT	p.G89G	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	89	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.G89G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTCGTGGGGAGCCCCGGGCCT	0.498000													5	81					0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39877613	39877613	+	Silent	SNP	C	C	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:39877613C>A	ENST00000373186.4	-	8	1205	c.1068G>T	c.(1066-1068)ggG>ggT	p.G356G	MOCS1_ENST00000373195.3_Silent_p.G269G|MOCS1_ENST00000373188.2_Silent_p.G356G|MOCS1_ENST00000373175.4_Silent_p.G327G|MOCS1_ENST00000425303.2_Silent_p.G356G|MOCS1_ENST00000432280.2_Silent_p.G327G|MOCS1_ENST00000340692.5_Silent_p.G356G|MOCS1_ENST00000308559.7_Silent_p.G356G	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	356	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCACAGCAGCCCCAATGATTC	0.617000													30	108					8.4185e-14	9.14424e-14	1	1	0
FLT3	2322	broad.mit.edu	37	13	28608023	28608023	+	Splice_Site	SNP	C	C	G			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr13:28608023C>G	ENST00000380982.4	-	15	2024		c.e15+1		FLT3_ENST00000241453.7_Splice_Site|FLT3_ENST00000537084.1_Splice_Site			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTATACTGTACCTTTCAGCAT	0.433000			"""Mis, O"""		"""AML, ALL"""								31	101					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35811928	35811928	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr22:35811928C>T	ENST00000216122.4	+	10	1464	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V	MCM5_ENST00000382011.5_Missense_Mutation_p.A394V|MCM5_ENST00000465557.1_3'UTR	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	437	MCM.				cell cycle checkpoint|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	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGTCCTGGCCGATGGTGGG	0.577000													5	380					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19436440	19436440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:19436440C>T	ENST00000538714.1	+	11	1526	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.Q514*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.Q266*|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000309364.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.Q508*	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	508							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CGAATGGCAGCAGCGTCAGTT	0.478000													26	93					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137642640	137642640	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr9:137642640G>A	ENST00000371817.3	+	13	1988	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	525	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTGCAGTTCCGGTTTGGAGGT	0.627000													7	38					0	0	1	0	0
PCDHB12	0	broad.mit.edu	37	5	140589806	140589806	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr5:140589806G>A	ENST00000239450.2	+	1	1516	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D106N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		443	Cadherin 4.				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)			GCTGGTCTCCGACGTCAATGA	0.602000													15	123					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154600401	154600401	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:154600401A>C	ENST00000292205.5	-	1	73	c.74T>G	c.(73-75)gTg>gGg	p.V25G	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_Intron	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	0					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCCTCCCCCCACCCTCCCCCA	0.642000													7	31					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2832109	2832109	+	Silent	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr8:2832109G>A	ENST00000520002.1	-	57	9162	c.8607C>T	c.(8605-8607)gcC>gcT	p.A2869A	CSMD1_ENST00000542608.1_Silent_p.A2810A|CSMD1_ENST00000537824.1_Silent_p.A2868A|CSMD1_ENST00000400186.3_Silent_p.A2811A|CSMD1_ENST00000602723.1_Silent_p.A2811A|CSMD1_ENST00000602557.1_Silent_p.A2869A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2869	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGTGAGGACGGCGTTGGCAG	0.507000													3	15					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													3	44					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65425588	65425588	+	Silent	SNP	C	C	T	rs139785185		TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:65425588C>T	ENST00000330909.8	-	9	1235	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	MAGI1_ENST00000483466.1_Silent_p.Q412Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000497477.2_Silent_p.Q412Q|MAGI1_ENST00000402939.2_Silent_p.Q412Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	412	Poly-Gln.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgttgctgct	0.537000											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	110					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74336765	74336765	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr15:74336765C>T	ENST00000565898.1	+	8	2005	c.1921C>T	c.(1921-1923)Cgg>Tgg	p.R641W	PML_ENST00000268058.3_Missense_Mutation_p.R689W			P29590	PML_HUMAN	promyelocytic leukemia	689					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AAACTTCTTCCGGGCCCTGGA	0.647000			T	"""RARA, PAX5"""	"""APL, ALL"""								4	58					0	0	1	0	0
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	RNA	DEL	AT	AT	-			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262													2	4	---	---	---	---					
CHD1L	9557	broad.mit.edu	37	1	146714381	146714381	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:146714381delG	ENST00000369258.4	+	1	48	c.28delG	c.(28-30)ggfs	p.G11fs	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Frame_Shift_Del_p.G11fs|CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000369259.3_Frame_Shift_Del_p.G11fs	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	11					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TACTAGCCGCGGGGGCCAAGC	0.741													6	11	---	---	---	---					
NRXN1	9378	broad.mit.edu	37	2	50765580	50765580	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr2:50765580delG	ENST00000404971.1	-	11	3413	c.2074delC	c.(2074-2076)aafs	p.Q692fs	NRXN1_ENST00000402717.3_Frame_Shift_Del_p.Q644fs|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.Q644fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000406316.2_Frame_Shift_Del_p.Q652fs	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	652	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.Q693K(2)|p.Q652K(2)|p.Q692K(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTTGCTTTGGCCATCGATG	0.507													32	338	---	---	---	---					
AC002454.1	0	broad.mit.edu	37	7	92518563	92518563	+	RNA	DEL	C	C	-			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr7:92518563delC	ENST00000419668.1	+	0	189				AC002454.1_ENST00000435695.1_RNA|AC002454.1_ENST00000452050.1_RNA|AC002454.1_ENST00000424523.1_RNA																							atggtggccgcccctccccac	0.562													2	4	---	---	---	---