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
TINAGL1	64129	broad.mit.edu	37	1	32042921	32042921	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr1:32042921C>G	uc001bta.2	+	2	298	c.172C>G	c.(172-174)CGT>GGT	p.R58G	TINAGL1_uc001bsz.2_Intron|TINAGL1_uc010ogi.1_Missense_Mutation_p.R58G|TINAGL1_uc010ogj.1_Missense_Mutation_p.R58G|TINAGL1_uc010ogk.1_Missense_Mutation_p.R58G	NM_022164	NP_071447	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	58	SMB.				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CTGCCGCGGCCGTGCCGACGA	0.692000												
PTGFR	5737	broad.mit.edu	37	1	78958499	78958499	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr1:78958499C>A	uc001din.2	+	2	337	c.71C>A	c.(70-72)ACG>AAG	p.T24K	PTGFR_uc001dim.2_Missense_Mutation_p.T24K	NM_000959	NP_000950	P43088	PF2R_HUMAN	prostaglandin F receptor isoform a precursor	24	Extracellular (Potential).				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			ovary(3)|breast(2)|skin(1)	6				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ACCTGCCAGACGGAAAACCGG	0.448000												
RBM15	64783	broad.mit.edu	37	1	110883151	110883151	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr1:110883151C>T	uc001dzl.1	+	1	1207	c.1124C>T	c.(1123-1125)ACG>ATG	p.T375M	RBM15_uc001dzm.1_Missense_Mutation_p.T375M|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	375	RRM 2.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTAACCGGACGCTCTTCTTG	0.507000			T	MKL1	acute megakaryocytic leukemia							
CADM3	57863	broad.mit.edu	37	1	159162373	159162373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr1:159162373C>T	uc001ftl.2	+	3	377	c.235C>T	c.(235-237)CGA>TGA	p.R79*	CADM3_uc009wsx.1_Nonsense_Mutation_p.R113*|CADM3_uc009wsy.1_Nonsense_Mutation_p.R79*|CADM3_uc001ftk.2_Nonsense_Mutation_p.R113*	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	79	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					CCCAGCCCTTCGAGATAATCG	0.522000												
PHRF1	57661	broad.mit.edu	37	11	609019	609019	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:609019G>A	uc001lqe.2	+	14	3694	c.3563G>A	c.(3562-3564)CGG>CAG	p.R1188Q	PHRF1_uc010qwc.1_Missense_Mutation_p.R1187Q|PHRF1_uc010qwd.1_Missense_Mutation_p.R1186Q|PHRF1_uc010qwe.1_Missense_Mutation_p.R1184Q|PHRF1_uc009ybz.1_Missense_Mutation_p.R978Q|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1188							RNA polymerase binding|zinc ion binding				0						CCGCAGACCCGGTCCCATTCC	0.711000												
ZNF408	79797	broad.mit.edu	37	11	46726259	46726259	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:46726259C>G	uc001nde.1	+	5	1239	c.1009C>G	c.(1009-1011)CGG>GGG	p.R337G	ZNF408_uc010rgw.1_Missense_Mutation_p.R329G	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						TACACTCTCGCGGAGCCCTCC	0.612000												
OR4A47	403253	broad.mit.edu	37	11	48510483	48510483	+	Missense_Mutation	SNP	G	G	A	rs142333570	byFrequency	TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:48510483G>A	uc010rhx.1	+	1	139	c.139G>A	c.(139-141)GTA>ATA	p.V47I		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	47	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGTAGTGACCGTAACTGTCAG	0.418000												
TRMT112	51504	broad.mit.edu	37	11	64084799	64084799	+	Silent	SNP	G	G	A			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:64084799G>A	uc001nzt.2	-	2	152	c.117C>T	c.(115-117)CCC>CCT	p.P39P	PRDX5_uc001nzu.2_5'Flank|PRDX5_uc001nzv.2_5'Flank|PRDX5_uc001nzw.2_5'Flank|PRDX5_uc001nzx.2_5'Flank	NM_016404	NP_057488	Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog	39	TRM112.				peptidyl-glutamine methylation	protein complex	protein binding|protein methyltransferase activity				0						CCACGAAGTTGGGGTTGAATT	0.627000												
KDM2A	22992	broad.mit.edu	37	11	67021038	67021038	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:67021038A>G	uc001ojw.2	+	19	3911	c.3047A>G	c.(3046-3048)GAC>GGC	p.D1016G	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.D710G|KDM2A_uc001ojz.1_Missense_Mutation_p.D474G|KDM2A_uc001oka.2_Missense_Mutation_p.D140G	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	1016					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						GGAATCAAGGACCCTCAAATT	0.552000												
CARNS1	57571	broad.mit.edu	37	11	67191316	67191316	+	Silent	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:67191316C>T	uc009yrp.2	+	9	2180	c.1728C>T	c.(1726-1728)TCC>TCT	p.S576S	PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Silent_p.S715S	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	576	ATP-grasp.|ATP (By similarity).			S -> P (in Ref. 3; BAF82627).	carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						AGCACTTTTCCCGGATTACCC	0.632000												
USP35	57558	broad.mit.edu	37	11	77921697	77921697	+	Silent	SNP	G	G	A			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:77921697G>A	uc009yva.1	+	10	3042	c.2796G>A	c.(2794-2796)GAG>GAA	p.E932E	USP35_uc001oze.2_Silent_p.E688E|USP35_uc001ozc.2_Silent_p.E500E|USP35_uc010rsp.1_Silent_p.E364E|USP35_uc001ozd.2_Silent_p.E543E|USP35_uc001ozf.2_Silent_p.E663E	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	932					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AGGGGCCCGAGGCTGAGTTGG	0.552000												
A2M	2	broad.mit.edu	37	12	9264996	9264996	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr12:9264996G>T	uc001qvk.1	-	3	520	c.407C>A	c.(406-408)TCA>TAA	p.S136*	A2M_uc009zgk.1_Intron	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	136					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TTTGTAGATTGATTTGTCTGT	0.463000												
OVCH1	341350	broad.mit.edu	37	12	29639273	29639273	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr12:29639273G>A	uc001rix.1	-	8	901	c.901C>T	c.(901-903)CGG>TGG	p.R301W		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	301	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGTTGGCCCCGATCCAAACCT	0.388000												
OR6C1	390321	broad.mit.edu	37	12	55714592	55714592	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr12:55714592C>T	uc010spi.1	+	1	209	c.209C>T	c.(208-210)TCG>TTG	p.S70L		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2						TTAGAAATTTCGTTCACAACC	0.378000												
TCTN1	79600	broad.mit.edu	37	12	111052045	111052045	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr12:111052045G>A	uc009zvs.2	+	1	166	c.58G>A	c.(58-60)GTG>ATG	p.V20M	TCTN1_uc010syb.1_Missense_Mutation_p.V20M|TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Translation_Start_Site|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.V20M|TCTN1_uc001trn.3_Missense_Mutation_p.V20M|TCTN1_uc001tri.2_Translation_Start_Site|TCTN1_uc001trj.1_Translation_Start_Site|TCTN1_uc001trk.3_RNA	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN	tectonic family member 1 isoform 2	20					multicellular organismal development	extracellular region					0						CTGGGCCTCCGTGAGCGCCCA	0.711000												
SLITRK1	114798	broad.mit.edu	37	13	84453672	84453672	+	Silent	SNP	G	G	A	rs77908553	byFrequency	TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr13:84453672G>A	uc001vlk.2	-	1	2857	c.1971C>T	c.(1969-1971)TCC>TCT	p.S657S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	657	Cytoplasmic (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCTCGGACGCGGAGGAGTTGG	0.552000												
NTRK3	4916	broad.mit.edu	37	15	88680668	88680668	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr15:88680668G>A	uc002bme.1	-	6	751	c.589C>T	c.(589-591)CTT>TTT	p.L197F	NTRK3_uc002bmh.2_Missense_Mutation_p.L197F|NTRK3_uc002bmf.1_Missense_Mutation_p.L197F|NTRK3_uc010upl.1_Missense_Mutation_p.L99F|NTRK3_uc010bnh.1_Missense_Mutation_p.L197F|NTRK3_uc002bmg.2_Missense_Mutation_p.L197F	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	197	Extracellular (Potential).|LRRCT.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGAGAGGAAGCTGGGAGCCA	0.607000			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)		
ARHGDIG	398	broad.mit.edu	37	16	332693	332693	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr16:332693C>T	uc002cgm.1	+	6	632	c.557C>T	c.(556-558)GCG>GTG	p.A186V	PDIA2_uc002cgn.1_5'UTR|PDIA2_uc010bqt.1_5'UTR|PDIA2_uc002cgo.1_5'Flank	NM_001176	NP_001167	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	186					negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			central_nervous_system(1)	1		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GTGGAGGAAGCGCCGAGGGGT	0.642000												
CREBBP	1387	broad.mit.edu	37	16	3781465	3781465	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr16:3781465C>T	uc002cvv.2	-	30	5104	c.4900G>A	c.(4900-4902)GTG>ATG	p.V1634M	CREBBP_uc002cvw.2_Missense_Mutation_p.V1596M	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1634	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGTGGATCACGAAGAAGACC	0.642000			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
LRRC50	123872	broad.mit.edu	37	16	84209614	84209614	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr16:84209614C>A	uc002fhl.3	+	11	1955	c.1774C>A	c.(1774-1776)CTC>ATC	p.L592I	LRRC50_uc010vnw.1_Missense_Mutation_p.L356I	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	leucine rich repeat containing 50	592					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0						CTACACGTCACTCCCTGTGCT	0.473000									Kartagener_syndrome		OREG0023983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DNAH9	1770	broad.mit.edu	37	17	11687794	11687794	+	Silent	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr17:11687794C>T	uc002gne.2	+	41	8067	c.7999C>T	c.(7999-8001)CTA>TTA	p.L2667L	DNAH9_uc010coo.2_Silent_p.L1961L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2667	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TACCACCTTCCTACCCACAGG	0.522000												
C17orf75	64149	broad.mit.edu	37	17	30660530	30660530	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr17:30660530C>T	uc002hhg.2	-	9	912	c.881G>A	c.(880-882)CGG>CAG	p.R294Q		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	hypothetical protein LOC64149	294					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CTCACAAAACCGGTTACTTCC	0.264000												
KRT24	192666	broad.mit.edu	37	17	38859549	38859549	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr17:38859549C>T	uc002hvd.2	-	1	454	c.397G>A	c.(397-399)GGG>AGG	p.G133R		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	133	Head.|Gly-rich.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				AAAAGCCCCCCATCGCCAACA	0.542000												
ERN1	2081	broad.mit.edu	37	17	62144105	62144105	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr17:62144105C>T	uc002jdz.2	-	8	881	c.768G>A	c.(766-768)ATG>ATA	p.M256I		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	256	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						CCTCCCCAGACATGAAGGTCA	0.587000												
MCOLN1	57192	broad.mit.edu	37	19	7593728	7593728	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr19:7593728C>T	uc002mgo.2	+	9	1131	c.1006C>T	c.(1006-1008)CGG>TGG	p.R336W	MCOLN1_uc002mgp.2_Missense_Mutation_p.R301W	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	336					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(1)	1						GTTCATGTGGCGGCAGCGGGG	0.632000												
KIAA0355	9710	broad.mit.edu	37	19	34824689	34824689	+	Silent	SNP	T	T	A			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr19:34824689T>A	uc002nvd.3	+	8	2203	c.1344T>A	c.(1342-1344)GTT>GTA	p.V448V		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	448										ovary(1)	1	Esophageal squamous(110;0.162)					GAATCGTGGTTCAAGTCCCAT	0.438000												
SAE1	10055	broad.mit.edu	37	19	47700550	47700550	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr19:47700550A>T	uc002pgc.2	+	7	850	c.794A>T	c.(793-795)GAT>GTT	p.D265V	SAE1_uc002pgd.2_Intron|SAE1_uc010ekx.2_Intron|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.D91V|SAE1_uc002pge.2_Missense_Mutation_p.D201V	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN	SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;	265					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			ovary(1)	1		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TATGAGGAAGATTCTGAGTTG	0.418000												
ABCG5	64240	broad.mit.edu	37	2	44059008	44059008	+	Splice_Site	SNP	T	T	G			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr2:44059008T>G	uc002rtn.2	-	4	543	c.403_splice	c.e4-1	p.S135_splice	ABCG5_uc002rto.2_Splice_Site_p.S54_splice|ABCG5_uc002rtp.2_Splice_Site	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5						cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGTGTCGCTCTGCAGGAGACT	0.582000												
COL3A1	1281	broad.mit.edu	37	2	189863014	189863014	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr2:189863014C>G	uc002uqj.1	+	28	2063	c.1946C>G	c.(1945-1947)CCT>CGT	p.P649R		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	649	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACAGGTGGTCCTCCAGGAGAA	0.358000												
MAP1B	4131	broad.mit.edu	37	5	71495819	71495819	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr5:71495819C>T	uc003kbw.3	+	5	6878	c.6637C>T	c.(6637-6639)CGC>TGC	p.R2213C	MAP1B_uc010iyw.1_Missense_Mutation_p.R2230C|MAP1B_uc010iyx.1_Missense_Mutation_p.R2087C|MAP1B_uc010iyy.1_Missense_Mutation_p.R2087C	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2213						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCCTTCGCCACGCCACCCTGA	0.542000												
YTHDC2	64848	broad.mit.edu	37	5	112868584	112868584	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr5:112868584G>T	uc003kqn.2	+	5	867	c.684G>T	c.(682-684)CAG>CAT	p.Q228H	YTHDC2_uc010jce.1_Missense_Mutation_p.Q228H|YTHDC2_uc010jcf.1_5'UTR	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	228	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGATTCCTCAGTTCCTTTTAG	0.264000												
SH3RF2	153769	broad.mit.edu	37	5	145435659	145435659	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr5:145435659C>T	uc003lnt.2	+	8	1676	c.1438C>T	c.(1438-1440)CGT>TGT	p.R480C	SH3RF2_uc011dbl.1_Missense_Mutation_p.R480C|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.2_5'UTR|SH3RF2_uc011dbn.1_5'UTR	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	480							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGGCAAAGCCGTCCCTTCAA	0.577000												
FAT2	2196	broad.mit.edu	37	5	150901209	150901209	+	Missense_Mutation	SNP	G	G	A	rs142359154		TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr5:150901209G>A	uc003lue.3	-	18	10958	c.10945C>T	c.(10945-10947)CGG>TGG	p.R3649W	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.R342W	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3649	Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCAGGTTCCGCCAGTGGTCA	0.607000												
DOCK2	1794	broad.mit.edu	37	5	169141406	169141406	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr5:169141406T>C	uc003maf.2	+	19	1966	c.1886T>C	c.(1885-1887)CTG>CCG	p.L629P	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.L121P|DOCK2_uc010jjl.1_Missense_Mutation_p.L147P	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	629	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGCCTCAACTGCTACAGGAG	0.433000												
SNAP91	9892	broad.mit.edu	37	6	84291982	84291982	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr6:84291982G>T	uc011dze.1	-	22	2425	c.2108C>A	c.(2107-2109)ACA>AAA	p.T703K	SNAP91_uc011dzd.1_Missense_Mutation_p.T206K|SNAP91_uc003pkb.2_Missense_Mutation_p.T612K|SNAP91_uc003pkc.2_Missense_Mutation_p.T673K|SNAP91_uc003pkd.2_Missense_Mutation_p.T396K|SNAP91_uc003pka.2_Missense_Mutation_p.T701K	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	703					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGAAGGCGTTGTCCCAAAAGC	0.458000												
IKZF1	10320	broad.mit.edu	37	7	50459524	50459524	+	Silent	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr7:50459524C>T	uc003tow.3	+	8	981	c.813C>T	c.(811-813)GTC>GTT	p.V271V	IKZF1_uc003tox.3_Silent_p.V229V|IKZF1_uc003toy.3_Silent_p.V229V|IKZF1_uc011kck.1_Silent_p.V184V|IKZF1_uc003toz.3_Silent_p.V241V|IKZF1_uc010kyx.2_Intron|IKZF1_uc003tpa.3_Silent_p.V23V	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	271					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(74)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CAAGTAACGTCGCCAAACGTA	0.393000			D		ALL							
CALN1	83698	broad.mit.edu	37	7	71488683	71488683	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr7:71488683C>T	uc003twa.3	-	4	861	c.334G>A	c.(334-336)GAT>AAT	p.D112N	CALN1_uc003twb.3_Missense_Mutation_p.D154N|CALN1_uc003twc.3_Missense_Mutation_p.D112N	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN	calneuron 1 isoform 2	112	Cytoplasmic (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AGAAAACCATCGCGACCTTCT	0.418000												
HGF	3082	broad.mit.edu	37	7	81372752	81372752	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr7:81372752C>T	uc003uhl.2	-	7	947	c.782G>A	c.(781-783)CGC>CAC	p.R261H	HGF_uc003uhm.2_Missense_Mutation_p.R256H|HGF_uc003uhn.1_Missense_Mutation_p.R261H|HGF_uc003uho.1_Missense_Mutation_p.R256H	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	261	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						ATCGGGATTGCGGCAATAATT	0.502000												
MEST	4232	broad.mit.edu	37	7	130144838	130144838	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr7:130144838C>T	uc003vqg.2	+	12	1166	c.949C>T	c.(949-951)CAG>TAG	p.Q317*	MEST_uc003vqc.2_Nonsense_Mutation_p.Q308*|MEST_uc003vqd.2_Nonsense_Mutation_p.Q274*|MEST_uc003vqf.2_Nonsense_Mutation_p.Q308*|MEST_uc011kph.1_Nonsense_Mutation_p.Q303*|MEST_uc010lmg.2_Silent_p.H295H	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	mesoderm specific transcript isoform a	317					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			ovary(2)	2	Melanoma(18;0.0435)					CCACTATCCACAGCTAGAGGA	0.517000												
MSR1	4481	broad.mit.edu	37	8	15967658	15967658	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr8:15967658A>C	uc003wwz.2	-	10	1490	c.1292T>G	c.(1291-1293)ATT>AGT	p.I431S	MSR1_uc010lsu.2_Missense_Mutation_p.I449S|MSR1_uc003wxa.2_Missense_Mutation_p.I368S	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	431	SRCR.|Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCATTGCCGAATTTTACATTC	0.378000												
PTK2B	2185	broad.mit.edu	37	8	27293800	27293800	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr8:27293800G>A	uc003xfn.1	+	20	2084	c.1276G>A	c.(1276-1278)GTC>ATC	p.V426I	PTK2B_uc003xfo.1_Missense_Mutation_p.V426I|PTK2B_uc003xfp.1_Missense_Mutation_p.V426I|PTK2B_uc003xfq.1_Missense_Mutation_p.V426I|PTK2B_uc010luq.1_Missense_Mutation_p.V184I|PTK2B_uc003xfr.1_Missense_Mutation_p.V172I	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	426	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TGAAGATGTGGTCCTGAATCG	0.498000												
C9orf79	286234	broad.mit.edu	37	9	90502005	90502005	+	Missense_Mutation	SNP	C	C	T	rs147060985	byFrequency	TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr9:90502005C>T	uc004app.3	+	4	2638	c.2603C>T	c.(2602-2604)CCG>CTG	p.P868L	C9orf79_uc004apo.1_Missense_Mutation_p.P680L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	868						integral to membrane		p.P868L(1)		ovary(3)	3						GCTCAGGCCCCGCCCTTCCCA	0.552000												
C9orf43	257169	broad.mit.edu	37	9	116191236	116191236	+	Silent	SNP	T	T	C			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr9:116191236T>C	uc004bho.3	+	13	1560	c.1164T>C	c.(1162-1164)AGT>AGC	p.S388S	C9orf43_uc004bhp.2_Silent_p.S388S	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	388											0						TCCACCACAGTGTAAAAAGTA	0.418000												
QSOX2	169714	broad.mit.edu	37	9	139100598	139100598	+	Silent	SNP	G	G	C			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr9:139100598G>C	uc010nbi.2	-	12	2111	c.2073C>G	c.(2071-2073)GTC>GTG	p.V691V		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2 precursor	691					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			ovary(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GGTGGTGCTTGACCTTCCACC	0.617000												
PCDH11X	27328	broad.mit.edu	37	X	91132496	91132496	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chrX:91132496G>C	uc004efk.1	+	2	2102	c.1257G>C	c.(1255-1257)GAG>GAC	p.E419D	PCDH11X_uc004efl.1_Missense_Mutation_p.E419D|PCDH11X_uc004efo.1_Missense_Mutation_p.E419D|PCDH11X_uc010nmv.1_Missense_Mutation_p.E419D|PCDH11X_uc004efm.1_Missense_Mutation_p.E419D|PCDH11X_uc004efn.1_Missense_Mutation_p.E419D|PCDH11X_uc004efh.1_Missense_Mutation_p.E419D|PCDH11X_uc004efj.1_Missense_Mutation_p.E419D	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	419	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TCCTCCTGGAGACTGCAGCAT	0.443000												
GPRASP1	9737	broad.mit.edu	37	X	101908902	101908902	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chrX:101908902G>T	uc004ejj.3	+	5	862	c.61G>T	c.(61-63)GAG>TAG	p.E21*	GPRASP1_uc004eji.3_Nonsense_Mutation_p.E21*|GPRASP1_uc010nod.2_Nonsense_Mutation_p.E21*	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	21						cytoplasm	protein binding			ovary(1)|lung(1)	2						GCCTGGGGAAGAGGTTGTAGG	0.532000												
SLITRK4	139065	broad.mit.edu	37	X	142717775	142717775	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chrX:142717775C>T	uc004fbx.2	-	2	1526	c.1150G>A	c.(1150-1152)GTC>ATC	p.V384I	SLITRK4_uc004fby.2_Missense_Mutation_p.V384I	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	384	Extracellular (Potential).|LRR 7.					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCATTGACGTGCAGCTTC	0.403000												
MAGEA12	4111	broad.mit.edu	37	X	151900012	151900012	+	Silent	SNP	G	G	T			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chrX:151900012G>T	uc010ntp.2	-	3	1143	c.789C>A	c.(787-789)GGC>GGA	p.G263G	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.G263G	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	263	MAGE.									skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGATCACTGCCGGGGACCT	0.552000												
PCDH11Y	83259	broad.mit.edu	37	Y	4968065	4968065	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chrY:4968065G>C	uc004fqo.2	+	2	3180	c.2446G>C	c.(2446-2448)GAA>CAA	p.E816Q	PCDH11Y_uc010nwg.1_Missense_Mutation_p.E805Q|PCDH11Y_uc004fql.1_Missense_Mutation_p.E805Q|PCDH11Y_uc004fqm.1_Missense_Mutation_p.E805Q|PCDH11Y_uc004fqn.1_Missense_Mutation_p.E816Q|PCDH11Y_uc004fqp.1_Missense_Mutation_p.E587Q	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	816	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						ACTGATTAATGAACTGGTGCG	0.438000												
ATM	472	broad.mit.edu	37	11	108172425	108172426	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:108172425_108172426insA	uc001pkb.1	+	35	5613_5614	c.5228_5229insA	c.(5227-5229)ACAfs	p.T1743fs	ATM_uc009yxr.1_Frame_Shift_Ins_p.T1743fs|ATM_uc001pke.1_Frame_Shift_Ins_p.T395fs|ATM_uc001pkg.1_Frame_Shift_Ins_p.T100fs|ATM_uc009yxt.1_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1743			T -> I (in AT; associated with preleukemic T-cell proliferation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.T1743I(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATTTTAGCCACAAAGACTGGAC	0.361			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
CD3G	917	broad.mit.edu	37	11	118215190	118215190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:118215190delC	uc001psu.2	+	1	132	c.52delC	c.(52-54)CAAfs	p.Q18fs	CD3D_uc001pss.1_5'Flank|CD3D_uc001pst.1_5'Flank	NM_000073	NP_000064	P09693	CD3G_HUMAN	CD3G antigen, gamma polypeptide precursor	18					establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CATTCTTCTTCAAGGTAAGGG	0.532												
ABI3BP	25890	broad.mit.edu	37	3	100604388	100604388	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr3:100604388delG	uc003dun.2	-	6	794	c.709delC	c.(709-711)CACfs	p.H237fs	ABI3BP_uc003duo.2_Frame_Shift_Del_p.H230fs|ABI3BP_uc003dup.3_Frame_Shift_Del_p.H230fs	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	237						extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						ACCACTGTGTGGTCTTGGTCA	0.284												
LETM1	3954	broad.mit.edu	37	4	1821128	1821130	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr4:1821128_1821130delCTT	uc003gdv.2	-	11	1975_1977	c.1678_1680delAAG	c.(1678-1680)AAGdel	p.K560del		NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	560	Mitochondrial matrix (Potential).|Potential.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TGGTGAGTGACTTCTTCTGCTCC	0.532												
ZSWIM5	57643	broad.mit.edu	37	1	45500008	45500009	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr1:45500007_45500008G>GA	uc001cnd.2	-	10	2653_2654	c.2425_2426C>TC	c.(2425-2427)tccfs	p.S809fs		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	809							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CAGCATGGTGGAGGCCAGTTCA	0.564												
MICAL1	64780	broad.mit.edu	37	6	109770634	109770636	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr6:109770633_109770635CGTT>C	uc011eaq.2	-	10	1832_1834	c.1541_1543AACG>G	c.(1540-1545)aacgac>aGac	p.514_515ND>R	MICAL1_uc003ptj.3_In_Frame_Del_p.495_496ND>R|MICAL1_uc003ptk.3_In_Frame_Del_p.495_496ND>R|MICAL1_uc010kdr.3_In_Frame_Del_p.409_410ND>R	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	495	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCTGTCTTGTCGTTGTTCCTCTG	0.596												
IPO7	10527	broad.mit.edu	37	11	9446755	9446756	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:9446754_9446755G>GA	uc001mho.3	+	11	1422_1423	c.1280_1281G>GA	c.(1279-1281)cgafs	p.R427fs		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	427					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity	p.R427Q(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GCTGACCCTCGAAAAAAAGATG	0.366												
ATM	472	broad.mit.edu	37	11	108172426	108172427	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:108172425_108172426C>CA	uc001pkb.1	+	34	5613_5614	c.5228_5229C>CA	c.(5227-5229)acafs	p.T1743fs	ATM_uc009yxr.1_Frame_Shift_Ins_p.T1743fs|ATM_uc001pke.2_Frame_Shift_Ins_p.T395fs|ATM_uc001pkg.1_Frame_Shift_Ins_p.T100fs|ATM_uc009yxt.1_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1743			T -> I (in AT; associated with preleukemic T-cell proliferation).		DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.T1743I(2)|p.A1742P(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATTTTAGCCACAAAGACTGGAC	0.361			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)		
SP7	121340	broad.mit.edu	37	12	53722840	53722841	+	Frame_Shift_Ins	INS	-	-	AGAG			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr12:53722839_53722840C>CAGAG	uc001sct.3	-	1	493_494	c.386_387G>CTCTG	c.(385-387)ctgfs	p.L129fs	SP7_uc001scv.3_Frame_Shift_Ins_p.L129fs|SP7_uc001scu.3_Frame_Shift_Ins_p.L111fs	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GTGTCATGTCCAGAGAGGTGTA	0.594												
OR10G3	26533	broad.mit.edu	37	14	22038804	22038805	+	Frame_Shift_Ins	INS	-	-	CCTTA			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr14:22038803_22038804T>TCCTTA	uc010tmb.2	-	0	72_73	c.72_73A>TAAGGA	c.(70-75)aggacafs	p.R24fs		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R24S(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AAAAAGAGTGTCCTTAGCCTGA	0.446