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
IGFN1	91156	broad.mit.edu	37	1	201168499	201168499	+	Silent	SNP	G	G	A	rs1534057	by1000genomes	TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:201168499G>A	uc001gwc.3	+	5	535	c.405G>A	c.(403-405)ccG>ccA	p.P135P	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAGGGAACCGCAGGAAGGTA	0.547000													4	122					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60686191	60686191	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr13:60686191T>C	uc001vht.3	-	2	562	c.343A>G	c.(343-345)Aag>Gag	p.K115E	DIAPH3_uc001vhw.1_Missense_Mutation_p.K104E|DIAPH3_uc010aed.1_Missense_Mutation_p.K104E|DIAPH3_uc010aee.1_Intron	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	115	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GACAGTGGCTTTGGAAAGTTC	0.403000													13	55					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510196	5510196	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:5510196T>C	uc010qzg.2	+	0	282	c.260T>C	c.(259-261)aTt>aCt	p.I87T	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTGGCCATTTTGTGGCTC	0.498000													93	251					0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78395127	78395127	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:78395127G>C	uc001dic.4	+	8	1288	c.991G>C	c.(991-993)Gaa>Caa	p.E331Q	NEXN_uc001dia.3_Missense_Mutation_p.E317Q|NEXN_uc009wcb.1_Missense_Mutation_p.E253Q|NEXN_uc001dib.4_Missense_Mutation_p.E267Q|NEXN_uc001did.1_Missense_Mutation_p.E241Q|NEXN_uc001dif.1_Missense_Mutation_p.E223Q	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	331	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		gaaagcagaagaagaagccag	0.388000													20	53					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66449317	66449317	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:66449317C>A	uc021xzk.1	+	25	3865	c.3557C>A	c.(3556-3558)gCa>gAa	p.A1186E	MAST4_uc003jut.2_Missense_Mutation_p.A997E|MAST4_uc003juw.3_Missense_Mutation_p.A925E	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1189	PDZ.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCATGCCAGGCAGGACTGAAG	0.438000													10	47					9.31168e-06	1.00877e-05	1	1	0
AKAP1	8165	broad.mit.edu	37	17	55183277	55183277	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr17:55183277C>T	uc010wnl.2	+	2	734	c.452C>T	c.(451-453)tCc>tTc	p.S151F	AKAP1_uc002iux.3_Missense_Mutation_p.S151F|AKAP1_uc021uak.1_Missense_Mutation_p.S151F|AKAP1_uc010dcm.3_Missense_Mutation_p.S151F|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	151					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCCCTTTCATCCCCAAAGGGT	0.537000													3	107					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53535630	53535630	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:53535630G>T	uc001cuv.3	+	1	415	c.247G>T	c.(247-249)Ggc>Tgc	p.G83C	PODN_uc010onr.2_Missense_Mutation_p.G64C|PODN_uc010ons.2_Missense_Mutation_p.G83C|PODN_uc001cuw.3_Missense_Mutation_p.G64C	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	35	LRRNT.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	p.G83D(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCGAAGTGGCGGCCACAGCCT	0.697000													13	12					7.41877e-09	8.19459e-09	1	1	0
CD164	8763	broad.mit.edu	37	6	109690201	109690201	+	Silent	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr6:109690201C>T	uc003pte.3	-	5	628	c.447G>A	c.(445-447)gtG>gtA	p.V149V	CD164_uc003ptd.3_Silent_p.V149V|CD164_uc003ptf.3_Silent_p.V130V|CD164_uc011eap.2_Intron|CD164_uc010kdn.3_Silent_p.V136V	NM_006016	NP_006007	Q04900	MUC24_HUMAN	Homo sapiens CD164 molecule, sialomucin (CD164), transcript variant 1, mRNA.	149	Thr-rich.				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding			breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		AGGTTGGAGTCACAGTGTTAT	0.408000													27	101					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4878618	4878618	+	Splice_Site	SNP	A	A	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:4878618A>C	uc003bqc.3	+	60	8495	c.8145_splice	c.e60+1	p.Q2715_splice	ITPR1_uc021wsi.1_Splice_Site_p.Q2682_splice|ITPR1_uc021wsj.1_Splice_Site_p.Q2667_splice|ITPR1_uc011asu.2_Splice_Site_p.Q693_splice|ITPR1_uc010hcc.2_Splice_Site_p.Q450_splice|ITPR1_uc011asv.2_Splice_Site_p.Q406_splice	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2730					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTAAAGGATCAGGTAAAGAAA	0.488000													12	34					0	0	1	0	0
ROPN1	54763	broad.mit.edu	37	3	123695737	123695737	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:123695737C>G	uc003eha.3	-	3	549	c.208G>C	c.(208-210)Gag>Cag	p.E70Q		NM_017578	NP_060048	Q9HAT0	ROP1A_HUMAN	Homo sapiens rhophilin associated tail protein 1 (ROPN1), mRNA.	70					signal transduction		cAMP-dependent protein kinase regulator activity			lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		TTTAACAGCTCAGGTGTTAGC	0.542000													29	148					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559488	20559488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:20559488G>A	uc002dhj.4	-	8	1204	c.994C>T	c.(994-996)Cag>Tag	p.Q332*	ACSM2B_uc002dhk.4_Nonsense_Mutation_p.Q332*|ACSM2B_uc010bwf.1_Nonsense_Mutation_p.Q332*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	332					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGGCAGTTCTGTAGATGGGGG	0.522000													34	83					0	0	1	0	0
LOC646938	646938	broad.mit.edu	37	15	79045665	79045665	+	RNA	SNP	G	G	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr15:79045665G>C	uc002bei.3	+	1		c.412G>C								Homo sapiens TBC1 domain family member 2B pseudogene (LOC646938), non-coding RNA.																		GCTCCGGGACGCTGCTCTTCC	0.582000													16	37					0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131521382	131521382	+	Silent	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:131521382C>A	uc021voy.1	+	0	1737	c.1737C>A	c.(1735-1737)gcC>gcA	p.A579A	FAM123C_uc002trw.2_Silent_p.A579A|FAM123C_uc010fmv.2_Silent_p.A579A|FAM123C_uc010fms.1_Silent_p.A579A|FAM123C_uc010fmt.1_Silent_p.A579A|FAM123C_uc010fmu.1_Silent_p.A579A	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	579								p.A579A(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GCCTGCTCGCCGGAGAGAGCA	0.662000													8	44					5.18039e-06	5.6483e-06	1	1	0
SNX9	51429	broad.mit.edu	37	6	158330822	158330822	+	Splice_Site	SNP	T	T	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr6:158330822T>G	uc003qqv.1	+	8	1004	c.831_splice	c.e8+1	p.T277_splice		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	277	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TAACACCTACTGTAAGTATCC	0.393000													21	65					0	0	1	0	0
SRC	6714	broad.mit.edu	37	20	36026154	36026154	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr20:36026154G>T	uc002xgx.3	+	8	1205	c.756G>T	c.(754-756)aaG>aaT	p.K252N	SRC_uc002xgy.3_Missense_Mutation_p.K252N	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	252					Ras protein signal transduction|T cell costimulation|axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly	caveola|cytosol|mitochondrial inner membrane	ATP binding|SH2 domain binding|SH3/SH2 adaptor activity|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	CCACGTCCAAGCCGCAGACTC	0.677000													3	38					0.00909568	0.0094887	1	1	0
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:102825947A>G	uc003vbh.4	-	19	3239	c.1048T>C	c.(1048-1050)Tgt>Cgt	p.C350R	DPY19L2P2_uc003vbg.4_Non-coding_Transcript|DPY19L2P2_uc010lit.3_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																		ACAGCTTGACACTTGCCATTG	0.373000													5	187					0	0	1	0	0
PRSS23	11098	broad.mit.edu	37	11	86519059	86519059	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:86519059G>A	uc021qok.1	+	0	374	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.R93Q|PRSS23_uc001pcb.3_Missense_Mutation_p.R125Q	NM_007173	NP_009104	O95084	PRS23_HUMAN	Homo sapiens protease, serine, 23 (PRSS23), mRNA.	125					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGAAAGTCTCGAAGGAAGCGG	0.527000													4	143					0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18226353	18226353	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr17:18226353A>T	uc002gsy.4	+	1	3293	c.2783A>T	c.(2782-2784)gAc>gTc	p.D928V		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.	928										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTCAGGTTTGACTATGTCCCC	0.547000													36	125					0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948772	2948772	+	Silent	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr6:2948772C>A	uc003muk.3	-	5	2886	c.891G>T	c.(889-891)ctG>ctT	p.L297L	SERPINB6_uc003mui.3_Silent_p.L180L|SERPINB6_uc003muj.3_Non-coding_Transcript|SERPINB6_uc003mul.3_Silent_p.L297L|SERPINB6_uc003mum.3_Silent_p.L297L|SERPINB6_uc003mun.3_Silent_p.L297L|SERPINB6_uc003muo.3_Silent_p.L297L	NM_004568	NP_004559	P35237	SPB6_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 6 (SERPINB6), transcript variant 1, mRNA.	297					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CTGCCTTGCCCAGCTCGAAGG	0.552000													41	125					1.41504e-22	1.64925e-22	1	1	0
SGSM3	27352	broad.mit.edu	37	22	40800334	40800334	+	Silent	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr22:40800334C>T	uc003ayu.1	+	4	450	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	SGSM3_uc010gyc.1_Silent_p.L81L|SGSM3_uc011aos.1_Silent_p.L14L|SGSM3_uc011aot.1_Silent_p.L18L	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	81					Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GCAGGCCCACCTGGAGTTCAC	0.627000													21	57					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141590874	141590874	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:141590874G>A	uc010ioj.3	-	7	1623	c.1351C>T	c.(1351-1353)Cta>Tta	p.L451L		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	451						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTGCCATTTAGGTTAAACTGG	0.577000													6	183					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58154281	58154281	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:58154281A>G	uc003djj.2	+	43	7478	c.7313A>G	c.(7312-7314)tAc>tGc	p.Y2438C	FLNB_uc010hne.2_Missense_Mutation_p.Y2469C|FLNB_uc003djk.2_Missense_Mutation_p.Y2427C|FLNB_uc010hnf.2_Missense_Mutation_p.Y2414C|FLNB_uc003djl.2_Missense_Mutation_p.Y2258C|FLNB_uc003djm.2_Missense_Mutation_p.Y2245C|BC041347_uc003djn.3_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2438	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTGAAGGGTACAAAGTCATG	0.522000													6	164					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5927943	5927943	+	Missense_Mutation	SNP	G	G	C	rs139767853	by1000genomes	TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:5927943G>C	uc001alq.2	-	23	3597	c.3329C>G	c.(3328-3330)gCg>gGg	p.A1110G	NPHP4_uc001alr.1_Missense_Mutation_p.A52G	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	1110					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACCACTCGCTCGGAACAA	0.607000													6	114					0	0	1	0	0
RRN3	54700	broad.mit.edu	37	16	15188060	15188060	+	Missense_Mutation	SNP	G	G	A	rs139679899	by1000genomes	TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:15188060G>A	uc002dde.3	-	0	99	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	PDXDC1_uc002ddc.3_Intron|RRN3_uc010uzq.2_Missense_Mutation_p.P11S|RRN3_uc002ddf.1_Missense_Mutation_p.P11S	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	Homo sapiens RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) (RRN3), mRNA.	11					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm		p.P11S(6)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						GCATCTCCCGGCAAACGCGTG	0.637000													4	124					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35704480	35704480	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr9:35704480C>T	uc003zxt.2	-	44	6250	c.5896G>A	c.(5896-5898)Gct>Act	p.A1966T		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1966				A -> R (in Ref. 1; AAD13152).	axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGAGCGCAGCCAGGACGTGG	0.582000													4	121					0	0	1	0	0
SLC16A4	9122	broad.mit.edu	37	1	110921516	110921516	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:110921516C>A	uc001dzo.2	-	5	1239	c.989G>T	c.(988-990)gGg>gTg	p.G330V	SLC16A4_uc009wfs.2_Missense_Mutation_p.G282V|SLC16A4_uc001dzp.2_Intron|SLC16A4_uc010ovy.2_Missense_Mutation_p.G268V|SLC16A4_uc010ovz.2_Missense_Mutation_p.G220V|SLC16A4_uc001dzq.2_Intron	NM_004696	NP_004687	O15374	MOT5_HUMAN	Homo sapiens solute carrier family 16, member 4 (monocarboxylic acid transporter 5) (SLC16A4), transcript variant 1, mRNA.	330						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GATGTCAATCCCCAGTGTTTT	0.418000													35	73					3.68427e-32	4.3239e-32	1	1	0
ATF7IP	55729	broad.mit.edu	37	12	14577475	14577475	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:14577475C>G	uc001rbw.3	+	1	784	c.626C>G	c.(625-627)cCc>cGc	p.P209R	ATF7IP_uc010shs.1_Missense_Mutation_p.P209R|ATF7IP_uc001rbu.3_Missense_Mutation_p.P209R|ATF7IP_uc001rbv.1_Missense_Mutation_p.P209R|ATF7IP_uc001rbx.3_Missense_Mutation_p.P209R|ATF7IP_uc010sht.1_Missense_Mutation_p.P209R|ATF7IP_uc001rby.4_Missense_Mutation_p.P209R|ATF7IP_uc001rbz.1_Missense_Mutation_p.P209R|ATF7IP_uc001rca.3_Missense_Mutation_p.P209R|ATF7IP_uc001rcb.3_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	209					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TCTAGTGATCCCATCCCAGGT	0.522000													12	314					0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27582616	27582616	+	Silent	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:27582616C>G	uc003szf.3	-	4	801	c.588G>C	c.(586-588)gtG>gtC	p.V196V	HIBADH_uc003szg.3_Silent_p.V147V|HIBADH_uc003szi.3_Silent_p.V147V	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	196					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	CACAGTACACCACGTTGGAGC	0.468000													28	79					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26988231	26988231	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:26988231G>T	uc003jgs.1	-	1	379	c.210C>A	c.(208-210)gaC>gaA	p.D70E	CDH9_uc010iug.3_Missense_Mutation_p.D70E	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	70	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATATTGTGTGTCAGTACCTG	0.393000													4	81					0.000602214	0.000636089	1	1	0
ZNF251	90987	broad.mit.edu	37	8	145947050	145947050	+	Silent	SNP	A	A	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:145947050A>T	uc003zdv.4	-	4	2251	c.1995T>A	c.(1993-1995)atT>atA	p.I665I		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TTTCTTGGAAAATCTTCTTGA	0.358000													25	56					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15765925	15765925	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:15765925G>A	uc003caj.1	-	6	800	c.657C>T	c.(655-657)atC>atT	p.I219I	ANKRD28_uc003cai.1_Silent_p.I65I|ANKRD28_uc011avz.1_Silent_p.I65I|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011awa.1_Non-coding_Transcript|ANKRD28_uc003cal.1_Silent_p.I249I|ANKRD28_uc003cam.2_Silent_p.I252I	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	219						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TGACTACGCTGATCATTCCAC	0.363000													14	84					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36185759	36185759	+	Missense_Mutation	SNP	A	A	G	rs145016452	byFrequency	TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr6:36185759A>G	uc003olv.4	+	8	3279	c.3055A>G	c.(3055-3057)Agt>Ggt	p.S1019G	BRPF3_uc010jwb.3_Missense_Mutation_p.S749G|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Intron|BRPF3_uc010jwd.3_5'UTR	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	1019					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TTTGGGTCTCAGTGGTGGACT	0.498000													4	179					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39886356	39886356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr15:39886356C>A	uc001zkh.3	+	19	3503	c.3324C>A	c.(3322-3324)taC>taA	p.Y1108*	THBS1_uc010bbi.3_Nonsense_Mutation_p.Y580*	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1108	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCACCGCCTACAGATGGCGTC	0.478000													35	106					9.84934e-19	1.13234e-18	1	1	0
IFT88	8100	broad.mit.edu	37	13	21163994	21163994	+	Silent	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr13:21163994T>C	uc001unh.3	+	5	621	c.225T>C	c.(223-225)gcT>gcC	p.A75A	IFT88_uc001uni.3_Silent_p.A66A|IFT88_uc001unj.3_Silent_p.A65A|IFT88_uc010tcq.2_Intron	NM_175605	NP_006522	Q13099	IFT88_HUMAN	Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA.	75					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		GACCTATAGCTACTGGATATG	0.328000													6	32					0	0	1	0	0
RRN3	54700	broad.mit.edu	37	16	15188066	15188066	+	Missense_Mutation	SNP	G	G	A	rs142601938	by1000genomes	TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:15188066G>A	uc002dde.3	-	0	93	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	PDXDC1_uc002ddc.3_Intron|RRN3_uc010uzq.2_Missense_Mutation_p.R9C|RRN3_uc002ddf.1_Missense_Mutation_p.R9C	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	Homo sapiens RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) (RRN3), mRNA.	9					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm		p.R9C(6)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CCCGGCAAACGCGTGTGAAGC	0.642000													4	113					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18861438	18861438	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:18861438T>C	uc002dfm.3	-	34	5657	c.5294A>G	c.(5293-5295)gAt>gGt	p.D1765G	SMG1_uc010bwb.3_Missense_Mutation_p.D1625G|SMG1_uc010bwa.3_Missense_Mutation_p.D496G|SMG1_uc021ted.1_Missense_Mutation_p.D63G	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	1765	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTCATCCTCATCTAAAGGAAT	0.388000													78	164					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38755540	38755540	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:38755540A>C	uc003ciq.3	-	20	3713	c.3713T>G	c.(3712-3714)cTg>cGg	p.L1238R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1238					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGAATATTCCAGAATCTTCGC	0.527000													22	40					0	0	1	0	0
MTMR9	66036	broad.mit.edu	37	8	11180146	11180146	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:11180146G>A	uc003wtm.3	+	9	1897	c.1499G>A	c.(1498-1500)cGt>cAt	p.R500H	MTMR9_uc010lrx.3_Missense_Mutation_p.R393H|MTMR9_uc011kxa.2_Missense_Mutation_p.R415H|CR749668_uc003wtn.2_5'Flank|CR749668_uc003wto.1_Intron	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	Homo sapiens myotubularin related protein 9 (MTMR9), mRNA.	500						cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		ATTTTCCTACGTTGGAATAGA	0.294000													4	120					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116729111	116729111	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:116729111G>A	uc001ppy.3	-	19	2788	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W	SIK3_uc001ppz.3_Missense_Mutation_p.R757W|SIK3_uc001pqa.3_Missense_Mutation_p.R858W|SIK3_uc001ppw.3_Missense_Mutation_p.R275W|SIK3_uc001ppx.3_Missense_Mutation_p.R296W|SIK3_uc001pqb.3_Missense_Mutation_p.R221W	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	918	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AGCGAATGCCGGGGAGAAAGC	0.592000													6	287					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	83635455	83635455	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:83635455C>G	uc021pvc.1	+	0	386	c.359C>G	c.(358-360)tCt>tGt	p.S120C	NRG3_uc010qlz.1_Missense_Mutation_p.S120C|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.S120C|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank|NRG3_uc021pvd.1_5'Flank|NRG3_uc021pve.1_5'Flank|NRG3_uc021pvf.1_5'Flank|NRG3_uc021pvg.1_5'Flank|NRG3_uc021pvh.1_5'Flank|NRG3_uc021pvi.1_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	120	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AAGCCCAGCTCTTTCCCCAAG	0.662000													23	61					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72190908	72190908	+	Silent	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr15:72190908A>G	uc002atl.4	-	24	4409	c.3936T>C	c.(3934-3936)ccT>ccC	p.P1312P	MYO9A_uc010biq.3_Silent_p.P932P|MYO9A_uc002atn.1_Silent_p.P1293P|MYO9A_uc002atk.3_Silent_p.P36P|MYO9A_uc002atm.1_Silent_p.P36P	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1312	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAAGGCCTTCAGGCACCAATT	0.453000													33	73					0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91795	91795	+	RNA	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chrGL000211.1:91795G>A	uc003bnz.1	+	6		c.1151G>A			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CAATTTGTATGTTGGATAGTG	0.383000													3	40					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40713882	40713882	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:40713882A>T	uc001rmg.4	+	33	5041	c.4920A>T	c.(4918-4920)aaA>aaT	p.K1640N	LRRK2_uc009zjw.3_Missense_Mutation_p.K478N|LRRK2_uc001rmi.3_Missense_Mutation_p.K473N	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1640					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAAAAAGGAAATTTCCAAAGA	0.358000											OREG0003827	type=REGULATORY REGION|Gene=LOC486608|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	25					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167825476	167825476	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:167825476C>T	uc001ger.3	-	16	2396	c.2098G>A	c.(2098-2100)Gta>Ata	p.V700I	ADCY10_uc010plj.2_Missense_Mutation_p.V547I|ADCY10_uc009wvk.3_Missense_Mutation_p.V608I|ADCY10_uc009wvl.3_Missense_Mutation_p.V699I	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	700					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTAGGCTGTACTGCACCAATG	0.458000													60	150					0	0	1	0	0
TMEM156	80008	broad.mit.edu	37	4	38988027	38988027	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:38988027T>A	uc003gto.3	-	4	860	c.752A>T	c.(751-753)aAa>aTa	p.K251I	TMEM156_uc010ifj.3_Missense_Mutation_p.K251I	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	251						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGATGTAGGTTTGTCTCTATG	0.373000													9	34					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254884	3254884	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:3254884G>T	uc010uwu.2	+	0	638	c.638G>T	c.(637-639)tGc>tTc	p.C213F		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCATTTCTTTGCATCCTGGCT	0.512000													8	274					0.0381472	0.039072	1	1	0
SUV420H1	51111	broad.mit.edu	37	11	67925405	67925405	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:67925405C>A	uc001onm.1	-	10	2664	c.2408G>T	c.(2407-2409)aGt>aTt	p.S803I	SUV420H1_uc009yse.1_Missense_Mutation_p.S389I|SUV420H1_uc001onn.1_Missense_Mutation_p.S631I|SUV420H1_uc009ysf.2_Missense_Mutation_p.S563I	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	803					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAGAGGATCACTGCAGCACAC	0.438000													4	99					1	1	1	1	0
BAZ2B	29994	broad.mit.edu	37	2	160206728	160206728	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:160206728C>T	uc002uao.3	-	27	4759	c.4354G>A	c.(4354-4356)Gaa>Aaa	p.E1452K	BAZ2B_uc002uap.3_Missense_Mutation_p.E1416K	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTATCTTTTTCTTTAAGATCT	0.368000													9	42					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66449318	66449318	+	Silent	SNP	A	A	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:66449318A>T	uc021xzk.1	+	25	3866	c.3558A>T	c.(3556-3558)gcA>gcT	p.A1186A	MAST4_uc003jut.2_Silent_p.A997A|MAST4_uc003juw.3_Silent_p.A925A	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1189	PDZ.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CATGCCAGGCAGGACTGAAGG	0.438000													10	47					0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42577629	42577629	+	Silent	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:42577629C>T	uc003clf.2	+	12	1354	c.1230C>T	c.(1228-1230)ggC>ggT	p.G410G	VIPR1_uc021wwl.1_Silent_p.G369G|VIPR1_uc011azn.2_Silent_p.G383G|VIPR1_uc011azl.1_Silent_p.G362G|VIPR1_uc011azm.1_Silent_p.G200G|VIPR1_uc003clg.2_Silent_p.G55G	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	410					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ACCTGCAGGGCGTCCTGGGCT	0.682000													44	52					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295663	29295663	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:29295663G>A	uc002rmt.2	-	0	1465	c.1465C>T	c.(1465-1467)Cca>Tca	p.P489S		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	489					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCCTCCTCTGGGCTGCTGTCC	0.527000													66	144					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8642191	8642191	+	Splice_Site	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr19:8642191C>G	uc002mkg.3	-	1	141	c.3_splice	c.e1+1	p.M1_splice	MYO1F_uc010xkf.2_Splice_Site_p.M1_splice	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	1	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AAGGACTTACCATGGTGGGGG	0.587000													15	44					0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87764193	87764193	+	Silent	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:87764193T>C	uc002fki.3	-	5	666	c.564A>G	c.(562-564)caA>caG	p.Q188Q	KLHDC4_uc010cht.2_Silent_p.Q7Q|KLHDC4_uc002fkj.3_Intron|KLHDC4_uc002fkl.3_Silent_p.Q131Q|KLHDC4_uc010chu.1_Silent_p.Q7Q	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	Homo sapiens kelch domain containing 4 (KLHDC4), transcript variant 1, mRNA.	188										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		ACAGGATCAATTGTCTCTTCC	0.428000													3	113					0	0	1	0	0
E2F6	1876	broad.mit.edu	37	2	11605913	11605913	+	Silent	SNP	G	G	A	rs145938903	byFrequency	TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:11605913G>A	uc002rbh.3	-	0	385	c.93C>T	c.(91-93)aaC>aaT	p.N31N	E2F6_uc002rbg.3_5'UTR|E2F6_uc002rbi.3_5'UTR|E2F6_uc010yjl.2_Non-coding_Transcript|E2F6_uc002rbe.3_5'UTR|E2F6_uc002rbf.3_5'UTR|E2F6_uc002rbj.1_Non-coding_Transcript	NM_198256	NP_937987	O75461	E2F6_HUMAN	Homo sapiens E2F transcription factor 6 (E2F6), mRNA.	31					negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		GGCCCTCCACGTTGATGGGGT	0.721000													3	59					0	0	1	0	0
CA1	759	broad.mit.edu	37	8	86250502	86250502	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:86250502C>T	uc022axc.1	-	1	293	c.214G>A	c.(214-216)Gag>Aag	p.E72K	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Missense_Mutation_p.E72K|CA1_uc022axd.1_Missense_Mutation_p.E72K|CA1_uc010mae.2_Missense_Mutation_p.E72K|CA1_uc003ydi.3_Missense_Mutation_p.E72K	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	72					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	TCGTTGTCCTCAAAATTTACA	0.388000													7	72					0	0	1	0	0
NUBP2	10101	broad.mit.edu	37	16	1837701	1837701	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:1837701G>T	uc002cmw.4	+	3	447	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	NUBP2_uc002cmx.4_5'UTR	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	Homo sapiens nucleotide binding protein 2 (NUBP2), mRNA.	120						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GTTTGTGTCCGACGTGGCCTG	0.662000													22	49					3.99451e-17	4.5613e-17	1	1	0
GPR107	57720	broad.mit.edu	37	9	132845879	132845879	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr9:132845879A>G	uc004bze.2	+	5	789	c.562A>G	c.(562-564)Aag>Gag	p.K188E	GPR107_uc004bzb.2_5'UTR|GPR107_uc011mbx.1_Missense_Mutation_p.K188E|GPR107_uc004bzd.2_Missense_Mutation_p.K188E	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.	188						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				AGTGGATTCAAAGGTAAGAAC	0.348000													8	161					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49586991	49586991	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr6:49586991C>T	uc003ozk.4	-	1	304	c.242G>A	c.(241-243)gGt>gAt	p.G81D	RHAG_uc010jzl.3_Missense_Mutation_p.G81D|RHAG_uc010jzm.3_Missense_Mutation_p.G81D	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	81					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TAGGTTGATACCCACACTGCT	0.443000													27	74					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82808191	82808191	+	Silent	SNP	A	A	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:82808191A>C	uc003kii.3	+	5	1374	c.1018A>C	c.(1018-1020)Aga>Cga	p.R340R	VCAN_uc003kij.3_Silent_p.R340R|VCAN_uc010jau.2_Silent_p.R340R|VCAN_uc003kik.3_Silent_p.R340R|VCAN_uc003kih.4_Silent_p.R340R	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	340	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCCTGATAGCAGATTTGATGC	0.448000													28	63					0	0	1	0	0
SLC7A6OS	84138	broad.mit.edu	37	16	68338097	68338097	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:68338097C>G	uc002evw.2	-	2	549	c.510G>C	c.(508-510)gaG>gaC	p.E170D		NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	Homo sapiens solute carrier family 7, member 6 opposite strand (SLC7A6OS), mRNA.	170					protein transport	cytoplasm|nucleus				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		CACGGATCAACTCTACAGAAT	0.458000													76	161					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100344177	100344177	+	Silent	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:100344177C>T	uc003uwj.3	+	7	948	c.783C>T	c.(781-783)ctC>ctT	p.L261L	ZAN_uc003uwk.3_Silent_p.L261L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	261	MAM 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTACATGCTCCTGGACCCCA	0.577000													26	67					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102825946	102825946	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:102825946C>T	uc003vbh.4	-	19	3240	c.1049G>A	c.(1048-1050)tGt>tAt	p.C350Y	DPY19L2P2_uc003vbg.4_Non-coding_Transcript|DPY19L2P2_uc010lit.3_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																		GACAGCTTGACACTTGCCATT	0.373000													5	191					0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691183	153691183	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:153691183C>T	uc003imy.3	-	1	1795	c.974G>A	c.(973-975)aGc>aAc	p.S325N	TIGD4_uc021xtf.1_Missense_Mutation_p.S325N	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA.	325	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding|chromatin binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GATTTTAAGGCTTTTAATAAC	0.323000													22	86					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42310472	42310472	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr20:42310472A>G	uc002xlb.1	+	2	378	c.163A>G	c.(163-165)Aag>Gag	p.K55E	MYBL2_uc010zwj.1_Intron	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	55	HTH myb-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCAGGACTGGAAGTTCCTGGC	0.602000													28	80					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117670	117670	+	RNA	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chrGL000205.1:117670G>A	uc002kgk.4	+	0		c.1048G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGTTCAGAGCGTGGAGCAGAT	0.607000													3	33					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154855893	154855893	+	Silent	SNP	T	T	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:154855893T>A	uc010hvr.1	+	8	934	c.723T>A	c.(721-723)gcT>gcA	p.A241A	MME_uc003fab.1_Silent_p.A241A|MME_uc003fac.1_Silent_p.A241A|MME_uc003fad.1_Silent_p.A241A|MME_uc003fae.1_Silent_p.A241A	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	241					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TCTTGCAGGCTTGTACAGCAT	0.323000													55	59					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155015935	155015935	+	Silent	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:155015935G>T	uc001fgn.2	+	9	1236	c.1122G>T	c.(1120-1122)ctG>ctT	p.L374L	DCST1_uc010per.2_Silent_p.L399L|DCST1_uc010pes.2_Silent_p.L349L	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	374						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGTGGGCCCTGGGGCTGCTGC	0.687000													15	35					0.000132079	0.000141274	1	1	0
CDHR5	53841	broad.mit.edu	37	11	621148	621148	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:621148T>C	uc001lql.3	-	6	988	c.721A>G	c.(721-723)Acc>Gcc	p.T241A	CDHR5_uc001lqj.3_Missense_Mutation_p.T241A|CDHR5_uc009ycd.3_Missense_Mutation_p.T241A|CDHR5_uc001lqk.3_Missense_Mutation_p.T241A|CDHR5_uc009ycc.3_Missense_Mutation_p.T75A|CDHR5_uc001lqm.2_Missense_Mutation_p.T75A|CDHR5_uc009yce.1_Missense_Mutation_p.T210A	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	241					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TCTGAGAAGGTGCAGGGCAGG	0.652000													24	91					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101076121	101076121	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:101076121C>G	uc003yjb.1	-	7	1070	c.875G>C	c.(874-876)aGa>aCa	p.R292T	RGS22_uc003yja.1_Missense_Mutation_p.R111T|RGS22_uc003yjc.1_Missense_Mutation_p.R280T|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.R196T	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	292					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAGGTATACTCTCAGAAGAGC	0.343000													6	39					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170012842	170012842	+	Silent	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:170012842G>T	uc002ues.3	-	64	12306	c.12093C>A	c.(12091-12093)gtC>gtA	p.V4031V		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4031	EGF-like 15; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATCAGCACAGACACACTCAT	0.438000													30	108					2.75727e-19	3.19164e-19	1	1	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91811	91811	+	RNA	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chrGL000211.1:91811A>G	uc003bnz.1	+	6		c.1167A>G			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TAGTGTGTTTACATTTGTTTT	0.363000													3	40					0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56301748	56301748	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:56301748A>G	uc003haz.1	-	23	3301	c.2375T>C	c.(2374-2376)cTc>cCc	p.L792P	CLOCK_uc003hba.1_Missense_Mutation_p.L792P|CLOCK_uc010igu.1_Non-coding_Transcript	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	792					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ATTCCCATGGAGCAACCTAGA	0.453000													49	119					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151261140	151261140	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:151261140T>G	uc001exq.3	+	2	2350	c.2252T>G	c.(2251-2253)cTc>cGc	p.L751R	ZNF687_uc009wmo.3_Missense_Mutation_p.L751R|ZNF687_uc009wmp.3_Missense_Mutation_p.L751R	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	751					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGACCCATCTCCGGGAGGCC	0.582000													29	87					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39542509	39542509	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr18:39542509C>A	uc002lap.3	+	2	371	c.313C>A	c.(313-315)Caa>Aaa	p.Q105K	PIK3C3_uc010xcl.2_Missense_Mutation_p.Q42K|PIK3C3_uc002lao.3_Missense_Mutation_p.Q105K	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA.	105					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CAGGAATGCCCAAGTGGCCCT	0.433000										TSP Lung(28;0.18)			5	97					0.00198382	0.00208239	1	1	0
SCARA3	51435	broad.mit.edu	37	8	27516084	27516084	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:27516084C>T	uc003xga.1	+	4	538	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	SCARA3_uc003xgb.1_Nonsense_Mutation_p.Q133*	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	133					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CCGAAAACTGCAGGAGGAGCT	0.562000													6	72					0	0	1	0	0
C14orf102	55051	broad.mit.edu	37	14	90769186	90769186	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr14:90769186C>T	uc001xyi.2	-	5	1522	c.1289G>A	c.(1288-1290)aGt>aAt	p.S430N	C14orf102_uc010atp.1_Intron|C14orf102_uc001xyj.2_Missense_Mutation_p.S199N	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	430							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		CGAAAAGGTACTAAACTGGCT	0.423000													11	62					0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40802147	40802147	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr22:40802147C>T	uc003ayu.1	+	8	1089	c.880C>T	c.(880-882)Ctc>Ttc	p.L294F	SGSM3_uc010gyc.1_Missense_Mutation_p.L294F|SGSM3_uc011aos.1_Missense_Mutation_p.L227F|SGSM3_uc011aot.1_Missense_Mutation_p.L231F	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	294	Rab-GAP TBC.				Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CATCAAGCTGCTCCTGCGCAT	0.617000													8	174					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82808190	82808190	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:82808190C>G	uc003kii.3	+	5	1373	c.1017C>G	c.(1015-1017)agC>agG	p.S339R	VCAN_uc003kij.3_Missense_Mutation_p.S339R|VCAN_uc010jau.2_Missense_Mutation_p.S339R|VCAN_uc003kik.3_Missense_Mutation_p.S339R|VCAN_uc003kih.4_Missense_Mutation_p.S339R	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	339	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCCCTGATAGCAGATTTGATG	0.443000													29	64					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21227463	21227463	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:21227463T>C	uc002red.3	-	26	12001	c.11873A>G	c.(11872-11874)tAt>tGt	p.Y3958C		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3958					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCTTCTTCATATTCTGCACT	0.363000													29	82					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867846	7867846	+	Silent	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:7867846A>G	uc003jeb.3	-	1	523	c.351T>C	c.(349-351)agT>agC	p.S117S	FASTKD3_uc011cmp.2_Intron|FASTKD3_uc003jec.3_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jed.3_5'Flank|MTRR_uc003jee.4_5'Flank|MTRR_uc003jef.4_5'Flank|MTRR_uc003jeg.4_5'Flank|MTRR_uc010ito.3_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	117					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.L116L(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGCTTATAAAACTTAGCACTT	0.423000													51	67					0	0	1	0	0
NUDT13	25961	broad.mit.edu	37	10	74884990	74884990	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:74884990T>G	uc001jtj.3	+	5	705	c.580T>G	c.(580-582)Tat>Gat	p.Y194D	NUDT13_uc010qkc.2_Missense_Mutation_p.Y68D|NUDT13_uc010qkd.2_5'UTR|NUDT13_uc009xqw.3_Non-coding_Transcript|NUDT13_uc001jtk.3_Missense_Mutation_p.Y194D|NUDT13_uc010qke.2_5'UTR|NUDT13_uc001jtl.3_Missense_Mutation_p.Y194D|BC069792_uc001jtm.3_Non-coding_Transcript	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 13 (NUDT13), mRNA.	194							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					TAATATAATCTATTATCCACA	0.478000													23	65					0	0	1	0	0
HUS1B	135458	broad.mit.edu	37	6	656335	656335	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr6:656335A>T	uc003mtg.3	-	0	630	c.610T>A	c.(610-612)Ttt>Att	p.F204I	EXOC2_uc003mtd.3_Intron|EXOC2_uc003mte.3_Intron|EXOC2_uc011dho.2_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	Homo sapiens HUS1 checkpoint homolog b (S. pombe) (HUS1B), mRNA.	204										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		AGATTTTTAAAATAACTTTGA	0.532000													22	57					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44922716	44922716	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chrX:44922716G>A	uc011mkz.2	+	16	2108	c.1733G>A	c.(1732-1734)gGg>gAg	p.G578E	KDM6A_uc022bvi.1_Missense_Mutation_p.G196E|KDM6A_uc010nhk.2_Missense_Mutation_p.G492E|KDM6A_uc004dge.4_Missense_Mutation_p.G526E|KDM6A_uc011mla.2_Missense_Mutation_p.G481E|KDM6A_uc011mlb.2_Missense_Mutation_p.G533E|KDM6A_uc011mlc.2_Missense_Mutation_p.G230E|KDM6A_uc022bvj.1_Missense_Mutation_p.G447E|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.G165E	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	526					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATTCCTAATGGGCCAACAGCT	0.488000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								16	10					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110734657	110734657	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:110734657G>A	uc009wfq.3	+	6	1389	c.928G>A	c.(928-930)Ggc>Agc	p.G310S	SLC6A17_uc001dze.1_5'Flank	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	310					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTTTGCCTTGGGCCTGGGCTT	0.552000													37	119					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2426375	2426375	+	Silent	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:2426375C>T	uc001aji.1	+	11	2011	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	PLCH2_uc010nyz.2_Silent_p.F368F|PLCH2_uc009vle.1_Silent_p.F368F|PLCH2_uc001ajj.1_Silent_p.F368F|PLCH2_uc001ajk.1_Silent_p.F368F	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	580					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGGGAAGCTTCTCCAGGCGCA	0.687000													3	15					0	0	1	0	0
WNT8A	7478	broad.mit.edu	37	5	137426733	137426733	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:137426733G>T	uc011cyk.1	+	4	1317	c.1081G>T	c.(1081-1083)Gcc>Tcc	p.A361S	WNT8A_uc011cyj.1_Intron|WNT8A_uc003lcd.1_Missense_Mutation_p.A343S			Q9H1J5	WNT8A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA.	343					Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.A343S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCCAGGCAGTGCCCAGTCCCT	0.507000													7	85					1	1	1	1	0
HMOX2	3163	broad.mit.edu	37	16	4557884	4557884	+	Silent	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:4557884G>T	uc002cwr.4	+	4	682	c.375G>T	c.(373-375)gtG>gtT	p.V125V	HMOX2_uc010bts.3_Silent_p.V125V|HMOX2_uc002cwq.4_Silent_p.V125V|HMOX2_uc010btt.3_Silent_p.V125V|HMOX2_uc002cwt.3_Silent_p.V125V	NM_001127204	NP_002125	P30519	HMOX2_HUMAN	Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 1, mRNA.	125					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	AGGAGCAGGTGCAGTGCCCCA	0.582000													32	180					8.73648e-17	9.90916e-17	1	1	0
MKL1	57591	broad.mit.edu	37	22	40825749	40825749	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr22:40825749G>A	uc003ayv.1	-	3	369	c.162C>T	c.(160-162)ctC>ctT	p.L54L	MKL1_uc010gyf.1_Silent_p.L54L|MKL1_uc003ayw.1_Silent_p.L54L|MKL1_uc010gye.1_Silent_p.L54L	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	54	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	p.L54L(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTTGGCCTGGAGGGATGGCT	0.577000			T	RBM15	acute megakaryocytic leukemia								22	79					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2703754	2703754	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr18:2703754A>C	uc002klm.4	+	12	1901	c.1712A>C	c.(1711-1713)gAt>gCt	p.D571A	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_5'Flank	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	571					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GAGAAGTATGATAAACAAATA	0.343000													26	74					0	0	1	0	0
MIEN1	84299	broad.mit.edu	37	17	37886504	37886504	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr17:37886504T>C	uc002hsq.3	-	1	170	c.130A>G	c.(130-132)Agt>Ggt	p.S44G		NM_032339	NP_115715	Q9BRT3	CQ037_HUMAN	Homo sapiens migration and invasion enhancer 1 (MIEN1), mRNA.	44					cell redox homeostasis	cytosol|membrane	selenium binding										TTCACAGCACTGGCCAGCTCC	0.657000											OREG0024383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	34					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9324818	9324818	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:9324818A>G	uc001apt.3	+	4	2539	c.2266A>G	c.(2266-2268)Acg>Gcg	p.T756A		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	756	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TGAGATCACCACGCTGGTGAG	0.637000													40	143					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89971181	89971181	+	Silent	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:89971181C>T	uc003kju.3	+	23	5328	c.5232C>T	c.(5230-5232)atC>atT	p.I1744I	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1744					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATTGGTCATCCGTGCACAGG	0.507000													5	271					0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53416459	53416459	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:53416459C>T	uc001cur.2	+	3	400	c.232C>T	c.(232-234)Cac>Tac	p.H78Y	SCP2_uc010ono.2_5'UTR|SCP2_uc010onp.2_Missense_Mutation_p.H54Y|SCP2_uc009vzi.2_Intron|SCP2_uc001cus.2_5'UTR|SCP2_uc001cuq.2_Intron	NM_002979	NP_001180546	P22307	NLTP_HUMAN	Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA.	78					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GGCTATCTATCACAGTTTGGG	0.393000													21	78					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76463728	76463728	+	Splice_Site	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:76463728A>G	uc003yaq.3	+	5	618	c.348_splice	c.e5+1	p.Q116_splice	HNF4G_uc003yar.3_Splice_Site_p.Q153_splice	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	116					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CGGTCTCGCCAGGTACCTGTG	0.423000													6	41					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1478499	1478499	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:1478499T>G	uc003skj.4	-	9	2246	c.2099A>C	c.(2098-2100)aAa>aCa	p.K700T	MICALL2_uc003ski.4_Missense_Mutation_p.K187T	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	700						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AAGGTGAGGTTTCTTCTCCTC	0.632000													9	22					0	0	1	0	0
SH3BP5	9467	broad.mit.edu	37	3	15298471	15298471	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:15298471G>A	uc003bzp.1	-	7	1228	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L	SH3BP5_uc003bzq.1_Silent_p.L190L|SH3BP5_uc003bzr.1_Silent_p.L190L|AL133111_uc003bzo.1_Non-coding_Transcript	NM_004844	NP_001018009	O60239	3BP5_HUMAN	Homo sapiens SH3-domain binding protein 5 (BTK-associated) (SH3BP5), transcript variant 1, mRNA.	347	Ser-rich.				intracellular signal transduction	mitochondrion	SH3 domain binding|protein kinase inhibitor activity			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GGCAGATCCAGGCTGCCAGGC	0.587000													35	144					0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125988719	125988719	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:125988719A>C	uc003yrr.3	+	2	364	c.209A>C	c.(208-210)gAa>gCa	p.E70A		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GATGCAAAAGAAATGCCACTG	0.378000										HNSCC(60;0.17)			10	37					0	0	1	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132919099	132919099	+	RNA	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:132919099C>T	uc002tti.3	-	0		c.427G>A			ANKRD30BL_uc002ttj.3_Intron					Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA.											endometrium(1)|kidney(3)	4						CCATTGTCGTCTTCTTCATCA	0.582000													8	95					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13399893	13399893	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:13399893G>A	uc003bxv.1	-	15	2240	c.2157C>T	c.(2155-2157)gtC>gtT	p.V719V	NUP210_uc003bxx.3_Silent_p.V391V	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	719					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ACAGGGCGATGACCTGGTAGG	0.612000													20	142					0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82039973	82039973	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:82039973G>T	uc001kbw.3	-	4	760	c.505C>A	c.(505-507)Cgc>Agc	p.R169S		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	169					S-adenosylmethionine biosynthetic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGGCCGGAGCGCCTGAGGTCT	0.582000													5	61					0.0293803	0.0302761	1	1	0
KCNU1	157855	broad.mit.edu	37	8	36703123	36703123	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:36703123C>A	uc010lvw.3	+	16	1816	c.1729C>A	c.(1729-1731)Caa>Aaa	p.Q577K	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	577						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCCACCTCCACAAGTGAGGAT	0.383000													3	79					0.115264	0.117347	1	1	0
BMPR1A	657	broad.mit.edu	37	10	88681453	88681453	+	Splice_Site	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:88681453G>A	uc001kdy.3	+	11	1890	c.1342_splice	c.e11+1	p.G448_splice		NM_004329	NP_004320	P36894	BMR1A_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IA (BMPR1A), mRNA.	448	Protein kinase.				BMP signaling pathway|immune response|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|SMAD binding|metal ion binding|protein homodimerization activity|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						ATCACAGGAGGTGGGAGTTTG	0.388000			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				29	78					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40745358	40745358	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:40745358T>A	uc001rmg.4	+	43	6520	c.6399T>A	c.(6397-6399)aaT>aaA	p.N2133K	LRRK2_uc009zjw.3_Missense_Mutation_p.N971K|LRRK2_uc001rmi.3_Missense_Mutation_p.N966K	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	2133	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACATTTTGAATTCAGCTGAAT	0.343000													6	41					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31735431	31735431	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr6:31735431T>C	uc011dog.2	-	10	1842	c.1604A>G	c.(1603-1605)gAc>gGc	p.D535G	VWA7_uc003nxd.2_Missense_Mutation_p.D210G	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	535						extracellular region											GCTGCTGATGTCTCCGTGGAT	0.572000													32	76					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519562	113519562	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:113519562T>C	uc010ljy.1	-	3	1616	c.1585A>G	c.(1585-1587)Aaa>Gaa	p.K529E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	529					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCTTTGTTTTTCATTAACA	0.343000													10	65					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40825750	40825750	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr22:40825750A>G	uc003ayv.1	-	3	368	c.161T>C	c.(160-162)cTc>cCc	p.L54P	MKL1_uc010gyf.1_Missense_Mutation_p.L54P|MKL1_uc003ayw.1_Missense_Mutation_p.L54P|MKL1_uc010gye.1_Missense_Mutation_p.L54P	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	54	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	p.L54L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTTGGCCTGGAGGGATGGCTC	0.582000			T	RBM15	acute megakaryocytic leukemia								23	77					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214820384	214820384	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:214820384G>A	uc001hkm.3	+	12	7645	c.7471G>A	c.(7471-7473)Gag>Aag	p.E2491K		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2587	2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGGCCTTGATGAGGCCAAAAA	0.403000													4	76					0	0	1	0	0
SAV1	60485	broad.mit.edu	37	14	51132275	51132275	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr14:51132275G>A	uc001wyh.1	-	1	495	c.157C>T	c.(157-159)Cca>Tca	p.P53S	SAV1_uc021rsy.1_Non-coding_Transcript	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	Homo sapiens salvador homolog 1 (Drosophila) (SAV1), mRNA.	53					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CTTGAATCTGGAAGACAGATA	0.368000													3	124					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157369349	157369349	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:157369349G>C	uc003wno.3	-	18	2860	c.2739C>G	c.(2737-2739)gaC>gaG	p.D913E	PTPRN2_uc003wnp.3_Missense_Mutation_p.D896E|PTPRN2_uc003wnq.3_Missense_Mutation_p.D884E|PTPRN2_uc003wnr.3_Missense_Mutation_p.D875E|PTPRN2_uc011kwa.2_Missense_Mutation_p.D936E|MIR153-2_uc011kwb.1_5'Flank	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	913	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGACTCCTCGGTCATACCAAC	0.632000													6	69					0	0	1	0	0
GIN1	54826	broad.mit.edu	37	5	102432357	102432357	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:102432357G>C	uc003koa.1	-	6	1264	c.1182C>G	c.(1180-1182)gaC>gaG	p.D394E	GIN1_uc003kob.1_Missense_Mutation_p.D247E|GIN1_uc003koc.1_Intron	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	Homo sapiens gypsy retrotransposon integrase 1 (GIN1), mRNA.	394					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CTGTAATATAGTCTATGACAC	0.398000													3	116					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219330816	219330816	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:219330816C>T	uc010fvs.1	-	20	2796	c.2383G>A	c.(2383-2385)Gat>Aat	p.D795N	USP37_uc002vie.2_Missense_Mutation_p.D795N|USP37_uc010zkf.1_Missense_Mutation_p.D795N|USP37_uc002vif.2_Missense_Mutation_p.D795N|USP37_uc002vig.2_Missense_Mutation_p.D701N	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	795					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TGGAGCCAATCAACTTCTCCC	0.428000													3	68					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44922715	44922715	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chrX:44922715G>T	uc011mkz.2	+	16	2107	c.1732G>T	c.(1732-1734)Ggg>Tgg	p.G578W	KDM6A_uc022bvi.1_Missense_Mutation_p.G196W|KDM6A_uc010nhk.2_Missense_Mutation_p.G492W|KDM6A_uc004dge.4_Missense_Mutation_p.G526W|KDM6A_uc011mla.2_Missense_Mutation_p.G481W|KDM6A_uc011mlb.2_Missense_Mutation_p.G533W|KDM6A_uc011mlc.2_Missense_Mutation_p.G230W|KDM6A_uc022bvj.1_Missense_Mutation_p.G447W|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.G165W	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	526					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AATTCCTAATGGGCCAACAGC	0.488000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								16	10					3.41278e-10	3.79448e-10	1	1	0
MUC2	4583	broad.mit.edu	37	11	1093271	1093271	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:1093271C>G	uc001lsx.1	+	30	5117	c.5090C>G	c.(5089-5091)aCa>aGa	p.T1697R		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1732	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding	p.T1696T(3)|p.T1697R(2)|p.T1664R(2)|p.V1697G(1)|p.T1696M(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	cagaccccaacatcgacaccc	0.637000													3	28					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22436990	22436990	+	Missense_Mutation	SNP	C	C	G	rs146147575		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:22436990C>G	uc003gqm.1	-	9	1652	c.1387G>C	c.(1387-1389)Gtg>Ctg	p.V463L	GPR125_uc010ieo.1_Missense_Mutation_p.V337L|GPR125_uc003gqn.1_Missense_Mutation_p.V237L|GPR125_uc003gqo.3_Missense_Mutation_p.V463L	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	463					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATTTCTGCCACAAATATAACA	0.388000													38	121					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268538	1268538	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:1268538G>A	uc001lta.3	+	30	10487	c.10428G>A	c.(10426-10428)tcG>tcA	p.S3476S		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3476	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCCACCTCGGGCATCTTGG	0.667000													4	130					0	0	1	0	0
SLC22A13	9390	broad.mit.edu	37	3	38316203	38316203	+	Silent	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:38316203T>C	uc003chz.3	+	2	645	c.591T>C	c.(589-591)gcT>gcC	p.A197A	SLC22A13_uc011aym.1_Intron|SLC22A13_uc011ayn.1_Silent_p.A197A	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA.	197						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TGCGCTTTGCTGTGGCTACTG	0.617000													57	90					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196227503	196227503	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:196227503C>T	uc001gtd.1	-	25	3092	c.3032G>A	c.(3031-3033)cGg>cAg	p.R1011Q	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.R944Q|KCNT2_uc001gtf.1_Missense_Mutation_p.R987Q|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Missense_Mutation_p.R515Q	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1011						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTTTTTCTCCGCAGCAAGGG	0.517000													7	118					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154754041	154754041	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:154754041C>T	uc022aqg.1	-	9	2160	c.2117G>A	c.(2116-2118)tGt>tAt	p.C706Y	PAXIP1_uc022aqf.1_Missense_Mutation_p.C706Y|PAXIP1_uc022aqh.1_Missense_Mutation_p.C672Y|PAXIP1_uc022aqi.1_Missense_Mutation_p.C670Y	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	Homo sapiens PAX interacting (with transcription-activation domain) protein 1 (PAXIP1), mRNA.	706	BRCT 4.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ATGCTGTGAACATGGCTTTCC	0.493000													4	147					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57965901	57965901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:57965901C>T	uc001sor.1	+	13	1628	c.1420C>T	c.(1420-1422)Caa>Taa	p.Q474*	KIF5A_uc010srr.1_Nonsense_Mutation_p.Q385*	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	474					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.L473M(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GAGCCACCTGCAATCAGAGAA	0.582000													3	88					0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12628411	12628411	+	Silent	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:12628411T>C	uc001auc.3	-	5	1334	c.867A>G	c.(865-867)tcA>tcG	p.S289S	DHRS3_uc001aub.3_Silent_p.S204S	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	289					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TGTAGGTTCCTGAGAATTTGT	0.537000													4	145					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829526	61829526	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:61829526A>C	uc001jky.3	-	36	11451	c.11113T>G	c.(11113-11115)Tca>Gca	p.S3705A	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3705					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTGCTGCTGATTTCTCCAGG	0.512000													21	79					0	0	1	0	0
DEFB136	613210	broad.mit.edu	37	8	11831570	11831570	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:11831570G>A	uc011kxm.2	-	1	113	c.113C>T	c.(112-114)gCc>gTc	p.A38V		NM_001033018	NP_001028190	Q30KP8	DB136_HUMAN	Homo sapiens defensin, beta 136 (DEFB136), mRNA.	38					defense response to bacterium	extracellular region		p.A38A(1)		endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		GAAACATACGGCTTTCTGGCT	0.453000													41	96					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23444254	23444254	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr14:23444254G>A	uc001whz.3	-	4	1672	c.1299C>T	c.(1297-1299)aaC>aaT	p.N433N	AJUBA_uc001why.3_Silent_p.N16N	NM_032876	NP_116265	Q96IF1	JUB_HUMAN	Homo sapiens ajuba LIM protein (AJUBA), transcript variant 1, mRNA.	433	LIM zinc-binding 2.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CCAGGCACTTGTTGCAAACAA	0.522000													19	46					0	0	1	0	0
TMEM74B	55321	broad.mit.edu	37	20	1161648	1161648	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr20:1161648G>A	uc002weq.1	-	1	1287	c.615C>T	c.(613-615)taC>taT	p.Y205Y	TMEM74B_uc010gaa.1_Silent_p.Y205Y	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	Homo sapiens transmembrane protein 74B (TMEM74B), mRNA.	205						integral to membrane	protein binding										TCCTCCGGCGGTACAGCTCGC	0.652000													17	54					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116741113	116741113	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:116741113A>G	uc001ppy.3	-	13	1604	c.1568T>C	c.(1567-1569)gTg>gCg	p.V523A	SIK3_uc001ppz.3_Missense_Mutation_p.V422A|SIK3_uc001pqa.3_Missense_Mutation_p.V475A|SIK3_uc001ppx.3_5'Flank	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	523						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AACTGCTGGCACTGCCTGAAG	0.542000											OREG0003489	type=REGULATORY REGION|Gene=BC063887|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	20	66					0	0	1	0	0
GAPDHS	26330	broad.mit.edu	37	19	36029207	36029207	+	Splice_Site	SNP	A	A	C	rs111871741		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr19:36029207A>C	uc002oaf.1	+	3	362	c.246_splice	c.e3-2	p.G82_splice		NM_014364	NP_055179	O14556	G3PT_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), mRNA.	82					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	NAD binding|glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	GTCCCTGGCCAGATTTGGACG	0.567000													26	94					0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104125253	104125253	+	Silent	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr9:104125253T>C	uc010mtd.3	-	3	823	c.714A>G	c.(712-714)gtA>gtG	p.V238V	BAAT_uc004bbd.4_Silent_p.V238V	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	238					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GTCCAATCTGTACTCCTTGAC	0.393000													13	37					0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57389791	57389791	+	Silent	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:57389791C>G	uc021qzf.1	+	0	798	c.798C>G	c.(796-798)gtC>gtG	p.V266V	GPR182_uc001smk.3_Silent_p.V266V	NM_007264	NP_009195	O15218	GP182_HUMAN	Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.	266						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V266I(1)		endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						ACGTGGCCGTCTTTGTCATGT	0.617000													18	47					0	0	1	0	0
C1orf228	339541	broad.mit.edu	37	1	45189860	45189860	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:45189860C>T	uc001cmf.2	+	6	965	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_001145636	NP_001139108	Q6PIY5	CA228_HUMAN	Homo sapiens chromosome 1 open reading frame 228 (C1orf228), mRNA.	264							binding			central_nervous_system(1)	1						GGCCTCGTGGCGCTGCTGATA	0.627000													6	169					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	6981115	6981115	+	Missense_Mutation	SNP	G	G	A	rs35049841	byFrequency	TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr9:6981115G>A	uc003zkh.3	+	8	1692	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	KDM4C_uc010mhu.2_Missense_Mutation_p.R393Q|KDM4C_uc011lmi.1_Missense_Mutation_p.R371Q|KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.3_Missense_Mutation_p.R371Q|KDM4C_uc011lmk.2_Missense_Mutation_p.R190Q|KDM4C_uc011lml.2_Missense_Mutation_p.R58Q	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA.	371					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AAAGCATCCCGAAGGTAATGA	0.453000													18	28					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784506	151784506	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:151784506C>A	uc003luv.2	-	0	335	c.169G>T	c.(169-171)Gtg>Ttg	p.V57L		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	57					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ACCCCCACCACAAAAATTGGC	0.572000													7	192					3.09899e-07	3.40083e-07	1	1	0
USP12	219333	broad.mit.edu	37	13	27664060	27664060	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr13:27664060A>T	uc001uqy.3	-	5	951	c.694T>A	c.(694-696)Tac>Aac	p.Y232N		NM_182488	NP_872294	O75317	UBP12_HUMAN	Homo sapiens ubiquitin specific peptidase 12 (USP12), mRNA.	232					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TCTTCACAGTAATACTTGTAT	0.338000													26	50					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53225246	53225246	+	Silent	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:53225246C>A	uc001sbb.3	-	1	675	c.642G>T	c.(640-642)ggG>ggT	p.G214G	KRT79_uc001sba.3_5'Flank	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	214	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTCCAGCCTCCCCCGCTCGC	0.617000													24	75					1.1804e-14	1.32991e-14	1	1	0
CHI3L1	1116	broad.mit.edu	37	1	203151959	203151959	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:203151959T>C	uc001gzi.2	-	5	658	c.487A>G	c.(487-489)Aag>Gag	p.K163E	CHI3L1_uc001gzk.1_5'Flank|CHI3L1_uc001gzj.2_Missense_Mutation_p.K163E	NM_001276	NP_001267	P36222	CH3L1_HUMAN	Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.	163					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TGGGCTTCCTTTATAAATTCG	0.537000													24	66					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154574370	154574370	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:154574370C>A	uc001ffh.3	-	1	990	c.748G>T	c.(748-750)Gct>Tct	p.A250S	ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Missense_Mutation_p.A250S|ADAR_uc001ffi.3_Missense_Mutation_p.A250S|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	250					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	p.A250V(1)		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)		CAAGCCTGAGCTGAGACTGCA	0.512000													5	191					3.59834e-05	3.87337e-05	1	1	0
WLS	79971	broad.mit.edu	37	1	68697907	68697910	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:68697907_68697910delTTTG	uc001dee.3	-	0	375_378	c.73_76delCAAA	c.(73-78)caaatcfs	p.Q25fs	WLS_uc001def.2_Frame_Shift_Del_p.Q25fs|WLS_uc001deg.2_Frame_Shift_Del_p.Q25fs|WLS_uc001deh.2_Frame_Shift_Del_p.Q25fs	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	25					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of canonical Wnt receptor signaling pathway	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						AAGGCGATGATTTGGAACACGAGC	0.505													34	96	---	---	---	---					
GIGYF2	26058	broad.mit.edu	37	2	233676027	233676029	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:233676027_233676029delCTT	uc002vtj.4	+	18	2302_2304	c.2035_2037delCTT	c.(2035-2037)cttdel	p.L681del	GIGYF2_uc010zmj.1_In_Frame_Del_p.L660del|GIGYF2_uc002vtg.2_In_Frame_Del_p.L654del|GIGYF2_uc002vti.4_In_Frame_Del_p.L660del|GIGYF2_uc002vtk.4_In_Frame_Del_p.L660del|GIGYF2_uc002vth.4_In_Frame_Del_p.L654del|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_In_Frame_Del_p.L491del|GIGYF2_uc002vtq.4_5'UTR	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	660	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCAGTTGGCACTTCTTCTTCAAC	0.414													47	122	---	---	---	---					
PPP3CA	5530	broad.mit.edu	37	4	102030234	102030236	+	Splice_Site	DEL	AAC	AAC	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:102030234_102030236delAAC	uc011cen.1	-	3	935	c.260_splice	c.e3-1	p.V87_splice	PPP3CA_uc003hvu.2_Splice_Site_p.V87_splice|PPP3CA_uc010ilj.2_Splice_Site_p.V87_splice|PPP3CA_uc003hvt.2_Splice_Site_p.V74_splice|PPP3CA_uc003hvs.2_Splice_Site_p.V20_splice|PPP3CA_uc010ilk.2_Intron	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, alpha isozyme (PPP3CA), transcript variant 1, mRNA.	87	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TGTCCCCACAAACTGAAAGAAAC	0.330													9	42	---	---	---	---					
HSPA4L	22824	broad.mit.edu	37	4	128726257	128726266	+	Frame_Shift_Del	DEL	GAAATTGTAG	GAAATTGTAG	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:128726257_128726266delGAAATTGTAG	uc003ifm.3	+	8	1268_1277	c.1015_1024delGAAATTGTAG	c.(1015-1026)gaaattgtaggafs	p.E339fs	HSPA4L_uc010iny.1_Frame_Shift_Del_p.E298fs|HSPA4L_uc011cgr.2_Frame_Shift_Del_p.E306fs	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	339					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TAGTAGTATAGAAATTGTAGGAGGAGCAAC	0.333													16	117	---	---	---	---					
NIPBL	25836	broad.mit.edu	37	5	37017244	37017247	+	Frame_Shift_Del	DEL	ATAG	ATAG	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:37017244_37017247delATAG	uc003jkl.4	+	23	5399_5402	c.4900_4903delATAG	c.(4900-4905)atagaafs	p.I1634fs	NIPBL_uc003jkk.4_Frame_Shift_Del_p.I1634fs	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1634					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.E1635K(3)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCAAGGATCTATAGAACGCATTTT	0.333													76	98	---	---	---	---					
TXNDC15	79770	broad.mit.edu	37	5	134223683	134223688	+	In_Frame_Del	DEL	TGGCGC	TGGCGC	-	rs144331590		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:134223683_134223688delTGGCGC	uc003lac.1	+	1	1060_1065	c.402_407delTGGCGC	c.(400-408)gatggcgct>gat	p.GA137del	TXNDC15_uc010jdy.1_Intron	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	Homo sapiens thioredoxin domain containing 15 (TXNDC15), mRNA.	137					cell redox homeostasis	integral to membrane		p.G135G(1)|p.G137E(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTCTCTGGATGGCGCTGGAGCACAC	0.558													27	157	---	---	---	---					
BRD8	10902	broad.mit.edu	37	5	137506838	137506838	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:137506838delC	uc003lcf.1	-	4	303	c.248delG	c.(247-249)ggtfs	p.G83fs	BRD8_uc021yea.1_5'UTR|BRD8_uc003lcg.3_Frame_Shift_Del_p.G83fs|BRD8_uc003lci.3_Frame_Shift_Del_p.G83fs|BRD8_uc011cym.2_Frame_Shift_Del_p.G67fs|BRD8_uc011cyn.1_Frame_Shift_Del_p.G42fs|BRD8_uc010jes.1_5'UTR	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	83					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCCCTTTTCACCTCGTTTCCG	0.353													19	116	---	---	---	---					
HECW1	23072	broad.mit.edu	37	7	43508701	43508701	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:43508701delA	uc003tid.1	+	15	3701	c.3096delA	c.(3094-3096)ggafs	p.G1032fs	HECW1_uc011kbi.1_Frame_Shift_Del_p.G998fs	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1032	WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCAGCAGGGAAAGGTGAGTG	0.577													36	74	---	---	---	---					
CYP3A43	64816	broad.mit.edu	37	7	99434139	99434139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:99434139delT	uc003ury.1	+	1	238	c.135delT	c.(133-135)cctfs	p.P45fs	CYP3A43_uc003urx.1_Frame_Shift_Del_p.P45fs|CYP3A43_uc003urz.1_Frame_Shift_Del_p.P45fs|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Frame_Shift_Del_p.P45fs|CYP3A43_uc003usb.1_Intron	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	45			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	CCCCTCTGCCTTTTCTGGGAA	0.393													21	68	---	---	---	---					
RAB11FIP1	80223	broad.mit.edu	37	8	37730035	37730036	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:37730035_37730036insT	uc003xkm.2	-	3	2340_2341	c.2284_2285insA	c.(2284-2286)agcfs	p.S762fs	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Frame_Shift_Ins_p.S91fs|RAB11FIP1_uc003xko.1_Frame_Shift_Ins_p.S91fs|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	762					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCTGGCTTTGCTCTCCACAAGA	0.569													27	99	---	---	---	---					
KCNK9	51305	broad.mit.edu	37	8	140631226	140631231	+	In_Frame_Del	DEL	TGTTCA	TGTTCA	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:140631226_140631231delTGTTCA	uc003yvf.1	-	1	459_464	c.395_400delTGAACA	c.(394-402)atgaacacc>acc	p.MN132del	KCNK9_uc003yvg.1_In_Frame_Del_p.MN132del|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	132						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGCACGAAGGTGTTCATGCGCTCGCC	0.587													27	186	---	---	---	---					
BC080605	0	broad.mit.edu	37	9	68413567	68413567	+	RNA	DEL	G	G	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr9:68413567delG	uc004aex.3	+	0		c.122delG								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CTCCCCCAGTGGCGCCGGATC	0.602													4	5	---	---	---	---					
TAL2	6887	broad.mit.edu	37	9	108425384	108425384	+	Splice_Site	DEL	A	A	-	rs34463219		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr9:108425384delA	uc004bct.3	+	1	648	c.608_splice	c.e1+1			NM_005421	NP_005412	Q16559	TAL2_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 2 (TAL2), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										AATTCTAAATAAAAAAAAAAA	0.373			T	TRB@	T-ALL								2	4	---	---	---	---					
MKI67	4288	broad.mit.edu	37	10	129902204	129902205	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:129902204_129902205delTG	uc001lke.3	-	12	8094_8095	c.7899_7900delCA	c.(7897-7902)cacaaafs	p.H2633fs	MKI67_uc001lkf.3_Frame_Shift_Del_p.H2273fs|MKI67_uc009yav.1_Frame_Shift_Del_p.H2208fs|MKI67_uc009yaw.1_Frame_Shift_Del_p.H1783fs	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2633	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.H2633D(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGGTTCTTTGTGTGTGTGTG	0.500													7	173	---	---	---	---					
MRPL21	219927	broad.mit.edu	37	11	68660882	68660883	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:68660882_68660883insT	uc010rqe.1	-	4	462_463	c.437_438insA	c.(436-438)aagfs	p.K146fs	MRPL21_uc001ooh.3_Frame_Shift_Ins_p.K61fs|MRPL21_uc001ooi.3_Frame_Shift_Ins_p.K146fs	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	Homo sapiens mitochondrial ribosomal protein L21 (MRPL21), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	146					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGAGGAGTGGCTTGCCAAGCAG	0.540													7	135	---	---	---	---					
KRTAP5-10	387273	broad.mit.edu	37	11	71276657	71276658	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCCGGCTGTGGG	rs71049990		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:71276657_71276658insGGCTGTGGCTCCGGCTGTGGG	uc001oqt.1	+	0	49_50	c.24_25insGGCTGTGGCTCCGGCTGTGGG	c.(22-27)insGGCTGTGGCTCCGGCTGTGGG	p.29_30insGCGSGCG		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	29						keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGCTCCGGAGGCTGTGGCTC	0.668													29	62	---	---	---	---					
EXPH5	23086	broad.mit.edu	37	11	108381937	108381941	+	Frame_Shift_Del	DEL	CTTCT	CTTCT	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:108381937_108381941delCTTCT	uc001pkk.3	-	5	4404_4408	c.4293_4297delAGAAG	c.(4291-4299)tcagaagttfs	p.S1431fs	EXPH5_uc010rvz.2_Frame_Shift_Del_p.S1275fs|EXPH5_uc010rvy.2_Frame_Shift_Del_p.S1243fs	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1431					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCAATATTAACTTCTGAAAGAGCTG	0.395													28	96	---	---	---	---					
USP5	8078	broad.mit.edu	37	12	6974373	6974374	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:6974373_6974374delTG	uc001qri.4	+	18	2503_2504	c.2444_2445delTG	c.(2443-2445)atgfs	p.M815fs	USP5_uc001qrh.4_Frame_Shift_Del_p.M792fs|TPI1_uc001qrk.3_5'Flank|TPI1_uc010sfo.2_5'Flank	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	815					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACCTCTACCATGTGTGGTCACT	0.500													31	151	---	---	---	---					
TIMELESS	8914	broad.mit.edu	37	12	56827702	56827703	+	Frame_Shift_Ins	INS	-	-	CACG			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:56827702_56827703insCACG	uc001slf.2	-	2	273_274	c.105_106insCGTG	c.(103-108)gtgaagfs	p.V35fs	TIMELESS_uc001slg.2_Frame_Shift_Ins_p.V35fs	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	35					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ATCAGATCCTTCACGCTCTCTT	0.520													30	127	---	---	---	---					
TMEM132B	114795	broad.mit.edu	37	12	126138829	126138830	+	In_Frame_Ins	INS	-	-	CAA			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:126138829_126138830insCAA	uc001uhe.1	+	8	2818_2819	c.2810_2811insCAA	c.(2809-2811)ggc>ggCAAc	p.938_939insN	TMEM132B_uc001uhf.1_In_Frame_Ins_p.450_451insN	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	938						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGTGAGCAGGGCAACATCCCCC	0.510													27	142	---	---	---	---					
CLK3	1198	broad.mit.edu	37	15	74912367	74912371	+	Frame_Shift_Del	DEL	ACCAG	ACCAG	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr15:74912367_74912371delACCAG	uc010uln.2	+	2	1075_1079	c.614_618delACCAG	c.(613-618)taccagfs	p.Y205fs	CLK3_uc002ayg.4_Frame_Shift_Del_p.Y57fs|CLK3_uc002ayh.4_5'UTR|CLK3_uc010ulm.1_Frame_Shift_Del_p.Y205fs|CLK3_uc002ayj.4_Frame_Shift_Del_p.Y57fs|CLK3_uc002ayk.4_5'UTR	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	205	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CGCCTGCCCTACCAGAGGAGGTACC	0.580													41	136	---	---	---	---					
LOC100132247	100132247	broad.mit.edu	37	16	22545744	22545755	+	In_Frame_Del	DEL	TCCACCCTCAGC	TCCACCCTCAGC	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:22545744_22545755delTCCACCCTCAGC	uc010bxg.3	+	8	1622_1633	c.1440_1451delTCCACCCTCAGC	c.(1438-1452)cttccaccctcagct>ctt	p.PPSA485del	LOC100132247_uc010vbv.2_In_Frame_Del_p.PPSA485del|LOC100132247_uc021tew.1_In_Frame_Del_p.PPSA485del|LOC100132247_uc010bxi.3_In_Frame_Del_p.PPSA466del|LOC100132247_uc010bxk.3_In_Frame_Del_p.PPSA302del|DQ576951_uc021tey.1_5'Flank	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		TCACTCCCCTTCCACCCTCAGCTCCACCCTCA	0.571													20	8	---	---	---	---					
ZNF101	94039	broad.mit.edu	37	19	19790040	19790040	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr19:19790040delA	uc002nni.2	+	3	352	c.242delA	c.(241-243)gaafs	p.E81fs	ZNF101_uc010ecg.2_5'UTR|ZNF101_uc002nnj.2_5'UTR	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	Homo sapiens zinc finger protein 101 (ZNF101), mRNA.	81	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GAACACAGAGAAACTTTCAGC	0.413													39	112	---	---	---	---					
C21orf58	54058	broad.mit.edu	37	21	47721985	47721986	+	In_Frame_Ins	INS	-	-	TGG	rs144223236	by1000genomes	TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr21:47721985_47721986insTGG	uc002zjf.3	-	7	2029_2030	c.896_897insCCA	c.(895-897)cat>caCCAt	p.299_299H>HH	C21orf58_uc002ziz.3_Intron|C21orf58_uc002zja.3_In_Frame_Ins_p.193_193H>HH|C21orf58_uc002zjc.3_In_Frame_Ins_p.193_193H>HH|C21orf58_uc011afx.2_In_Frame_Ins_p.193_193H>HH|C21orf58_uc010gqj.2_Non-coding_Transcript	NM_058180	NP_478060	P58505	CU058_HUMAN	Homo sapiens chromosome 21 open reading frame 58 (C21orf58), mRNA.	299	Poly-His.							p.H299_A300insH(6)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GCCACACAGCAtggtggtggtg	0.708													5	10	---	---	---	---					
