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
CDA	978	broad.mit.edu	37	1	20944980	20944980	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:20944980G>A	uc001bdk.3	+	3	539	c.360G>A	c.(358-360)ccG>ccA	p.P120P	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	120					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	TGACCAAGCCGGATGGTACGT	0.587												
GRIK3	2899	broad.mit.edu	37	1	37356675	37356675	+	Silent	SNP	G	G	A	rs150456185		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:37356675G>A	uc001caz.2	-	1	273	c.138C>T	c.(136-138)gaC>gaT	p.D46D	GRIK3_uc001cba.1_Silent_p.D46D	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	46					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGTTGGGGCCGTCCGCATACT	0.507												
PTPRF	5792	broad.mit.edu	37	1	44086251	44086251	+	Splice_Site	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:44086251G>A	uc001cjr.3	+	31	5704	c.5364_splice	c.e31+1	p.R1788_splice	PTPRF_uc001cjs.3_Splice_Site_p.R1779_splice|PTPRF_uc001cju.3_Splice_Site_p.R1177_splice|PTPRF_uc009vwt.3_Splice_Site_p.R1348_splice|PTPRF_uc001cjv.3_Splice_Site_p.R1259_splice|PTPRF_uc001cjw.3_Splice_Site_p.R1014_splice	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1788	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGATGCCCGGGTGAGTGAGTG	0.547												
NEGR1	257194	broad.mit.edu	37	1	72058647	72058647	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:72058647A>G	uc001dfw.3	-	5	1021	c.793T>C	c.(793-795)Ttc>Ctc	p.F265L	NEGR1_uc001dfv.3_Missense_Mutation_p.F137L|NEGR1_uc010oqs.2_Missense_Mutation_p.F221L	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	265	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TGGCCATTGAAGAGCCTAGAA	0.373												
COL24A1	255631	broad.mit.edu	37	1	86282552	86282552	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:86282552delT	uc001dlj.3	-	46	3945	c.3870delA	c.(3868-3870)aaafs	p.K1290fs	COL24A1_uc001dli.3_Frame_Shift_Del_p.K426fs|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Frame_Shift_Del_p.K590fs|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1290	Collagen-like 14.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTGTATGCCTTTTGGCCCAA	0.388												
RBMXL1	494115	broad.mit.edu	37	1	89448604	89448605	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:89448604_89448605insGG	uc021opo.1	-	0	905_906	c.905_906insCC	c.(904-906)ccafs	p.P302fs	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Frame_Shift_Ins_p.P302fs|RBMXL1_uc001dms.3_Frame_Shift_Ins_p.P302fs	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	302	Ser-rich.						nucleotide binding|RNA binding										CACCATAAGATGGCGGGGGCCC	0.475												
HFM1	164045	broad.mit.edu	37	1	91740328	91740328	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:91740328C>T	uc001doa.4	-	32	3726	c.3627G>A	c.(3625-3627)gaG>gaA	p.E1209E	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Silent_p.E888E|HFM1_uc001dob.4_Silent_p.E397E|HFM1_uc010osv.1_Silent_p.E893E	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	1209							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TAAAACCAAACTCTTTAAGGT	0.299												
FAM102B	284611	broad.mit.edu	37	1	109167309	109167309	+	Silent	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:109167309T>C	uc010ouy.2	+	5	575	c.495T>C	c.(493-495)tcT>tcC	p.S165S		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	Homo sapiens family with sequence similarity 102, member B (FAM102B), mRNA.	165										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		CTGGTGAATCTGAATCTTTGC	0.403												
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	C	T	rs4996269	by1000genomes	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:145296403C>T	uc021oul.1	+	2	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L109L|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	109										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517												
RPTN	126638	broad.mit.edu	37	1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:152128277_152128280delTGTC	uc001ezs.1	-	2	1360_1363	c.1295_1298delGACA	c.(1294-1299)agacaafs	p.R432fs		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	432	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.R432K(2)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.525												
FLG	2312	broad.mit.edu	37	1	152282565	152282565	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:152282565G>C	uc001ezu.1	-	2	4833	c.4797C>G	c.(4795-4797)gaC>gaG	p.D1599E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1599	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCCTCACTGTCCCTGTCCT	0.592									Ichthyosis			
HDGF	3068	broad.mit.edu	37	1	156713958	156713958	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:156713958C>T	uc001fpy.4	-	3	808	c.486G>A	c.(484-486)ctG>ctA	p.L162L	HDGF_uc009wsd.3_Silent_p.L130L|HDGF_uc001fpz.4_Silent_p.L155L|HDGF_uc009wse.3_Silent_p.L178L|HDGF_uc010phr.2_Silent_p.L185L|HDGF_uc009wsf.3_Silent_p.L130L	NM_004494	NP_004485	P51858	HDGF_HUMAN	Homo sapiens hepatoma-derived growth factor (HDGF), transcript variant 1, mRNA.	162	Glu-rich.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CAGTTACCTCCAGCAAGTCCC	0.612												
PTGS2	5743	broad.mit.edu	37	1	186645642	186645642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:186645642C>T	uc001gsb.3	-	6	1064	c.927G>A	c.(925-927)tgG>tgA	p.W309*	PTGS2_uc009wyo.3_Nonsense_Mutation_p.W156*	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	309					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GCTCATCACCCCATTCAGGAT	0.448												
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:214557049_214557051delCCT	uc001hkk.2	-	12	2800_2802	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_uc021piy.1_In_Frame_Del_p.E480del|PTPN14_uc010pty.2_In_Frame_Del_p.E617del	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	716	Poly-Glu.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.E716delE(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626												
OR6F1	343169	broad.mit.edu	37	1	247875393	247875393	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:247875393A>C	uc001idj.1	-	0	665	c.665T>G	c.(664-666)aTc>aGc	p.I222S		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GATGGTGCTGATGATGTACAC	0.532												
TET1	80312	broad.mit.edu	37	10	70332622	70332622	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr10:70332622A>G	uc001jok.4	+	1	1032	c.527A>G	c.(526-528)cAa>cGa	p.Q176R		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	176					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATTGGTGTACAAAATCCCTCT	0.433												
ATRNL1	26033	broad.mit.edu	37	10	117061383	117061383	+	Missense_Mutation	SNP	C	C	T	rs140372621		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr10:117061383C>T	uc001lcg.3	+	16	3034	c.2648C>T	c.(2647-2649)gCg>gTg	p.A883V	ATRNL1_uc010qsm.2_Missense_Mutation_p.A58V|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	883						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATCAAAATGCGAGGCCGTGC	0.378												
HSPA12A	259217	broad.mit.edu	37	10	118434624	118434624	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr10:118434624C>T	uc001lct.3	-	11	1801	c.1696G>A	c.(1696-1698)Gac>Aac	p.D566N	HSPA12A_uc001lcu.3_Missense_Mutation_p.D483N	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	566							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCAAAGACGTCGGTGCACCAC	0.622												
TRIM21	6737	broad.mit.edu	37	11	4410895	4410895	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:4410895C>A	uc001lyy.1	-	2	606	c.493G>T	c.(493-495)Gca>Tca	p.A165S		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	165					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TTCCAGTCTGCTCTCTTTATT	0.507												
OR51G1	79324	broad.mit.edu	37	11	4944754	4944754	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:4944754G>A	uc010qyr.2	-	0	816	c.816C>T	c.(814-816)cgC>cgT	p.R272R		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGTACAACGCGGGGCAGAT	0.498												
C11orf41	25758	broad.mit.edu	37	11	33566719	33566719	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:33566719G>A	uc021qfs.1	+	1	2413	c.2289G>A	c.(2287-2289)atG>atA	p.M763I	C11orf41_uc001mun.1_Missense_Mutation_p.M769I	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	763						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						ACCTGGAGATGCCCAGAGCAT	0.592												
LRRC4C	57689	broad.mit.edu	37	11	40136459	40136459	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:40136459T>C	uc021qgf.1	-	0	1384	c.1384A>G	c.(1384-1386)Atg>Gtg	p.M462V	LRRC4C_uc001mxc.1_Missense_Mutation_p.M458V|LRRC4C_uc001mxd.1_Missense_Mutation_p.M458V|LRRC4C_uc001mxa.1_Missense_Mutation_p.M462V|LRRC4C_uc001mxb.1_Missense_Mutation_p.M458V	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	462					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GACGGTTCCATAGTCTCTACT	0.507												
INCENP	3619	broad.mit.edu	37	11	61895641	61895641	+	Missense_Mutation	SNP	C	C	T	rs61744797		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:61895641C>T	uc001nsw.1	+	1	210	c.8C>T	c.(7-9)aCg>aTg	p.T3M	INCENP_uc009ynv.3_Missense_Mutation_p.T3M|INCENP_uc009ynw.1_Missense_Mutation_p.T3M|INCENP_uc001nsx.1_Missense_Mutation_p.T3M	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	3					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACCATGGGGACGACGGCCCCA	0.567												
RSF1	51773	broad.mit.edu	37	11	77413468	77413468	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:77413468T>C	uc001oyn.3	-	5	926	c.806A>G	c.(805-807)aAt>aGt	p.N269S	RSF1_uc001oym.3_Missense_Mutation_p.N17S	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	269	Glu-rich.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTCTAGAACATTGGCTGTAGA	0.348												
KCNJ5	3762	broad.mit.edu	37	11	128786516	128786516	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:128786516C>T	uc001qet.3	+	2	1464	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	KCNJ5_uc009zck.3_Missense_Mutation_p.P384S|KCNJ5_uc001qew.3_Missense_Mutation_p.P384S	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	384					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CCCCAGCCCCCCACTGCTGGG	0.627												
LGR5	8549	broad.mit.edu	37	12	71977624	71977624	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr12:71977624G>A	uc001swl.3	+	17	1882	c.1834G>A	c.(1834-1836)Gtg>Atg	p.V612M	LGR5_uc001swm.3_Missense_Mutation_p.V588M|LGR5_uc021rar.1_Missense_Mutation_p.V540M|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	612						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTCCAGTGCCGTGCTGGCTGG	0.507												
CCDC41	51134	broad.mit.edu	37	12	94761707	94761707	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr12:94761707C>G	uc001tdd.3	-	10	1792	c.1206G>C	c.(1204-1206)gaG>gaC	p.E402D	CCDC41_uc001tde.3_Missense_Mutation_p.E402D|CCDC41_uc009zsw.1_Non-coding_Transcript	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	394										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CTAATCTGTTCTCGAGTTCTA	0.343												
RBM19	9904	broad.mit.edu	37	12	114282581	114282581	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr12:114282581C>T	uc009zwi.2	-	22	2821	c.2677G>A	c.(2677-2679)Gcc>Acc	p.A893T	RBM19_uc001tvn.4_Missense_Mutation_p.A893T|RBM19_uc001tvm.3_Missense_Mutation_p.A893T	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	893	RRM 6.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGACACAGGGCGTTGAAGGCT	0.642												
RNF17	56163	broad.mit.edu	37	13	25417989	25417989	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:25417989C>T	uc001upr.3	+	19	2752	c.2711C>T	c.(2710-2712)tCt>tTt	p.S904F	RNF17_uc010tdd.1_Missense_Mutation_p.S763F|RNF17_uc010tde.2_Missense_Mutation_p.S904F|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.S843F|RNF17_uc010aac.3_Missense_Mutation_p.S102F|RNF17_uc010aad.3_5'UTR	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	904					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCTGCAAAATCTCTACCTAAT	0.323												
SHISA2	387914	broad.mit.edu	37	13	26621160	26621160	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:26621160C>T	uc001uqm.1	-	1	464	c.379G>A	c.(379-381)Gcc>Acc	p.A127T		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	Homo sapiens shisa homolog 2 (Xenopus laevis) (SHISA2), mRNA.	127					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						ATGATAAAGGCGACAAACACG	0.542												
KIAA0226L	80183	broad.mit.edu	37	13	46937309	46937309	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:46937309C>T	uc010acl.3	-	5	1471	c.866G>A	c.(865-867)cGt>cAt	p.R289H	KIAA0226L_uc001vbf.4_Missense_Mutation_p.R222H|KIAA0226L_uc010tfz.2_Missense_Mutation_p.R132H|KIAA0226L_uc010acn.3_Missense_Mutation_p.R74H|KIAA0226L_uc010acm.3_Missense_Mutation_p.R154H|KIAA0226L_uc001vbe.4_Missense_Mutation_p.R289H|KIAA0226L_uc001vbh.4_Missense_Mutation_p.R289H|KIAA0226L_uc001vbi.4_Missense_Mutation_p.R132H|KIAA0226L_uc010aco.1_Missense_Mutation_p.R289H	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	289										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ATGGTAAGTACGTGTTTCAGT	0.393												
PCDH17	27253	broad.mit.edu	37	13	58299189	58299189	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:58299189C>G	uc001vhq.1	+	3	4133	c.3241C>G	c.(3241-3243)Cct>Gct	p.P1081A	PCDH17_uc010aec.1_Missense_Mutation_p.P1080A|PCDH17_uc001vhr.1_Missense_Mutation_p.P170A	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1081					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATATCTGTCACCTAGTAAGCA	0.527												
DACH1	1602	broad.mit.edu	37	13	72147083	72147083	+	Silent	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:72147083T>C	uc021rkj.1	-	3	1617	c.1194A>G	c.(1192-1194)gcA>gcG	p.A398A	DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	448					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.A398T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGGTGACAGATGCTGGAGGTA	0.473												
ARID4A	5926	broad.mit.edu	37	14	58771705	58771705	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr14:58771705A>G	uc001xdp.3	+	3	415	c.161A>G	c.(160-162)gAc>gGc	p.D54G	ARID4A_uc010apf.1_Non-coding_Transcript|ARID4A_uc001xdo.3_Missense_Mutation_p.D54G|ARID4A_uc001xdq.3_Missense_Mutation_p.D54G	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	54					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTACAAGATGACCAAGTAAAG	0.279												
SYNE2	23224	broad.mit.edu	37	14	64450574	64450574	+	Silent	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr14:64450574A>G	uc001xgl.3	+	17	2351	c.2121A>G	c.(2119-2121)gaA>gaG	p.E707E	SYNE2_uc001xgm.3_Silent_p.E707E|SYNE2_uc021ruh.1_Silent_p.E707E	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	707					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTCAGTAGAACTTCCTGAAA	0.259												
ATP10A	57194	broad.mit.edu	37	15	26026298	26026298	+	Silent	SNP	G	G	A	rs145190957	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr15:26026298G>A	uc010ayu.3	-	1	628	c.522C>T	c.(520-522)aaC>aaT	p.N174N		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	174					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAAGATTTCGTTGCAGCGAA	0.498												
SPINT1	6692	broad.mit.edu	37	15	41146113	41146113	+	Missense_Mutation	SNP	C	C	T	rs145193299		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr15:41146113C>T	uc001zna.3	+	4	1151	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SPINT1_uc001znb.3_Intron|SPINT1_uc001znc.3_Intron|SPINT1_uc010ucs.2_Missense_Mutation_p.A316V	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	316						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGGGCTCAGGCGACTTTCCCC	0.592												
GABPB1	2553	broad.mit.edu	37	15	50593063	50593063	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr15:50593063G>T	uc001zyb.3	-	5	1080	c.656C>A	c.(655-657)tCt>tAt	p.S219Y	GABPB1_uc001zya.3_Missense_Mutation_p.S207Y|GABPB1_uc010ufg.2_Missense_Mutation_p.S143Y|GABPB1_uc001zyd.3_Missense_Mutation_p.S207Y|GABPB1_uc001zye.3_Missense_Mutation_p.S219Y|GABPB1_uc001zyf.3_Missense_Mutation_p.S207Y|GABPB1_uc001zyc.3_Missense_Mutation_p.S207Y	NM_005254	NP_005245	Q06547	GABP1_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA.	219					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TGATGTAGAAGAGTTTCCAAA	0.363												
USP7	7874	broad.mit.edu	37	16	8998407	8998407	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr16:8998407G>A	uc002czl.2	-	14	1788	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	USP7_uc010uyk.1_Missense_Mutation_p.A431V|USP7_uc010uyj.1_Missense_Mutation_p.A431V|USP7_uc002czk.2_Missense_Mutation_p.A514V|USP7_uc010uyl.1_Intron	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	530					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.A530V(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GTCGGTGACCGCCTGTAAAAC	0.502												
ERCC4	2072	broad.mit.edu	37	16	14029049	14029049	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr16:14029049G>A	uc002dce.2	+	7	1269	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	ERCC4_uc010uyz.1_5'UTR	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	420					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GTTCCCAGCTGAGAGACTATA	0.403			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum			
CNOT1	23019	broad.mit.edu	37	16	58587731	58587731	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr16:58587731C>T	uc002env.3	-	21	3218	c.2925G>A	c.(2923-2925)ttG>ttA	p.L975L	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.L970L|CNOT1_uc002enx.3_Silent_p.L975L|CNOT1_uc002enz.1_Silent_p.L404L|CNOT1_uc010vik.2_5'Flank	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	975					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGATAGAAGCCAAATGCTGAC	0.368												
PIK3R5	23533	broad.mit.edu	37	17	8791674	8791674	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:8791674C>T	uc002glt.3	-	9	1497	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	PIK3R5_uc010vuz.2_Missense_Mutation_p.R477H|PIK3R5_uc021tqc.1_Missense_Mutation_p.R91H|PIK3R5_uc010cob.2_Missense_Mutation_p.R91H|PIK3R5_uc010coa.2_Missense_Mutation_p.R91H|PIK3R5_uc002glu.4_Missense_Mutation_p.R91H	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	477					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGGCAGGGAGCGGGAGCGCTG	0.721												
MYH13	8735	broad.mit.edu	37	17	10215249	10215249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:10215249G>A	uc002gmk.1	-	31	4600	c.4510C>T	c.(4510-4512)Cga>Tga	p.R1504*		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1504					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTGTTCTCTCGCCTCAGTGTC	0.542												
KRT35	3886	broad.mit.edu	37	17	39637207	39637207	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:39637207C>A	uc002hws.3	-	0	186	c.143G>T	c.(142-144)aGt>aTt	p.S48I		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	48	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GGCAGAGAAACTTCTGGCCAC	0.622												
CYTH1	9267	broad.mit.edu	37	17	76705733	76705733	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:76705733T>C	uc021ueg.1	-	2	176	c.105_splice	c.e2+1	p.Q35_splice	CYTH1_uc002jvw.3_Splice_Site_p.Q35_splice|CYTH1_uc010wtw.1_Splice_Site|CYTH1_uc010wtx.1_Splice_Site	NM_004762	NP_004753	Q15438	CYH1_HUMAN	Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.	35					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						CTCTCCTACCTGAATGTCAGC	0.498												
ZNF556	80032	broad.mit.edu	37	19	2878077	2878077	+	Missense_Mutation	SNP	C	C	T	rs139830711	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:2878077C>T	uc002lwp.1	+	3	1208	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M	ZNF556_uc002lwq.3_Missense_Mutation_p.T373M	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAATGTGAAACGTGTGGGAAA	0.483												
MFSD12	126321	broad.mit.edu	37	19	3557226	3557226	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:3557226C>T	uc002lxw.3	-	0	346	c.176G>A	c.(175-177)gGg>gAg	p.G59E	MFSD12_uc002lxx.3_Missense_Mutation_p.G59E|MFSD12_uc002lxy.3_Missense_Mutation_p.G59E|MFSD12_uc002lxz.3_Missense_Mutation_p.G59E	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	59					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CAGCAGCAGCCCCGCGCCGCG	0.726												
ATCAY	85300	broad.mit.edu	37	19	3918804	3918804	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:3918804C>T	uc010xhz.2	+	12	1503	c.1020_splice	c.e12-1	p.S340_splice	ATCAY_uc002lyy.4_Splice_Site_p.S334_splice|ATCAY_uc010dts.3_Splice_Site_p.S91_splice			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	334					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CTGTCCACAGCGCGAGGCCCC	0.612												
FUT3	2525	broad.mit.edu	37	19	5844141	5844141	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:5844141G>A	uc002mdk.2	-	1	807	c.710C>T	c.(709-711)aCg>aTg	p.T237M	FUT3_uc002mdm.2_Missense_Mutation_p.T237M|FUT3_uc002mdj.2_Missense_Mutation_p.T237M|FUT3_uc002mdl.2_Missense_Mutation_p.T237M|FUT3_uc021unn.1_Missense_Mutation_p.T237M	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	237					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	p.T237M(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCGGGACAGCGTCTCCATCAT	0.622												
TNFSF14	8740	broad.mit.edu	37	19	6669943	6669943	+	Silent	SNP	C	C	T	rs140577063		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:6669943C>T	uc002mfk.2	-	1	520	c.138G>A	c.(136-138)ctG>ctA	p.L46L	TNFSF14_uc002mfj.2_Intron	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	46					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CGGCCCCCATCAGCAACAGCA	0.662												
MUC16	94025	broad.mit.edu	37	19	9047128	9047128	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:9047128C>G	uc002mkp.3	-	4	34707	c.34503G>C	c.(34501-34503)atG>atC	p.M11501I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11503	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTGGGAACCATTGTGTTGG	0.507												
MUC16	94025	broad.mit.edu	37	19	9082859	9082859	+	Nonsense_Mutation	SNP	T	T	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:9082859T>A	uc002mkp.3	-	0	9160	c.8956A>T	c.(8956-8958)Aga>Tga	p.R2986*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2987	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGCATATCTAGGGTCCCCT	0.498												
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:12430217delA	uc002mtp.3	-	3	860	c.622delT	c.(622-624)tggfs	p.W208fs	ZNF563_uc002mtq.2_Intron	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393												
NOTCH3	4854	broad.mit.edu	37	19	15289676	15289676	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:15289676C>T	uc002nan.3	-	22	3871	c.3795G>A	c.(3793-3795)ccG>ccA	p.P1265P	NOTCH3_uc002nao.1_Silent_p.P1213P	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1265	EGF-like 32.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCCAGGACCCGGGCTAGGAC	0.647												
IL12RB1	3594	broad.mit.edu	37	19	18180414	18180414	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:18180414G>A	uc002nhx.1	-	10	1302	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	IL12RB1_uc002nhw.1_Silent_p.D377D|IL12RB1_uc010xqb.1_Silent_p.D377D	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	377	Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CAAGGCCCCCGTCCTGGCCCA	0.627												
ZNF91	7644	broad.mit.edu	37	19	23544856	23544856	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:23544856delG	uc002nre.3	-	3	1038	c.925delC	c.(925-927)cttfs	p.L309fs	ZNF91_uc010xrj.2_Frame_Shift_Del_p.L277fs	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	309						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTTTAGCAAGGGTTGAAGAA	0.403												
GPATCH1	55094	broad.mit.edu	37	19	33604693	33604693	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:33604693C>T	uc002nug.1	+	13	2227	c.1913C>T	c.(1912-1914)cCa>cTa	p.P638L	GPATCH1_uc002nuh.1_Missense_Mutation_p.P15L	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	638						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GTTGGCTTACCAAGAGTGAAG	0.418												
WDR88	126248	broad.mit.edu	37	19	33666419	33666421	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:33666419_33666421delTCA	uc002nui.3	+	10	1438_1440	c.1360_1362delTCA	c.(1360-1362)tcadel	p.S458del	TRNA_Thr_uc021usc.1_5'Flank	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	458	Poly-Ser.									breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TACTTCATCGTCATCATCATCAT	0.527												
CYP2F1	1572	broad.mit.edu	37	19	41622139	41622139	+	Missense_Mutation	SNP	G	G	A	rs142026539		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:41622139G>A	uc002opu.1	+	1	102	c.46G>A	c.(46-48)Gtc>Atc	p.V16I	CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.V16I|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	16					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCTGGCTCTCGTCTGTCTGCT	0.577												
NLRP8	126205	broad.mit.edu	37	19	56477731	56477731	+	Missense_Mutation	SNP	G	G	A	rs142437909	by1000genomes	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:56477731G>A	uc002qmh.3	+	4	2437	c.2366G>A	c.(2365-2367)cGt>cAt	p.R789H	NLRP8_uc010etg.3_Missense_Mutation_p.R789H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	789						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCCCGGTGCCGTCTGCAGTGT	0.547												
C2orf89	129293	broad.mit.edu	37	2	85051303	85051303	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:85051303G>A	uc010ysl.2	-	5	1197	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	C2orf89_uc002sou.4_Missense_Mutation_p.R321W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	370						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						AGAGTGGGCCGTGTGGAGGTC	0.567												
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:98427639delT	uc002syh.4	-	17	2149	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	640						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393												
MYO7B	4648	broad.mit.edu	37	2	128384614	128384614	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:128384614G>A	uc002top.3	+	30	4255	c.4202G>A	c.(4201-4203)cGc>cAc	p.R1401H	MYO7B_uc002toq.1_Missense_Mutation_p.R254H|MYO7B_uc002tor.1_Missense_Mutation_p.R254H	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1401	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GACGCCGCCCGCCTGCAGTGG	0.637												
YSK4	80122	broad.mit.edu	37	2	135738842	135738842	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:135738842G>A	uc002tue.1	-	8	3500	c.3469C>T	c.(3469-3471)Cca>Tca	p.P1157S	YSK4_uc002tuf.1_Missense_Mutation_p.P339S|YSK4_uc010fnc.1_Missense_Mutation_p.P291S|YSK4_uc010fnd.1_Missense_Mutation_p.P1044S|YSK4_uc010zbg.1_Missense_Mutation_p.P289S|YSK4_uc021vpz.1_Missense_Mutation_p.P18S|YSK4_uc002tuh.4_Missense_Mutation_p.P885S|YSK4_uc002tui.4_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1157	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCAGGCAATGGCCCAAAACGG	0.418												
FMNL2	114793	broad.mit.edu	37	2	153463859	153463859	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:153463859G>A	uc002tye.3	+	9	1250	c.883G>A	c.(883-885)Gga>Aga	p.G295R		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	295	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TCAGGTTTGTGGAGAAAAACA	0.313												
LOC200726	200726	broad.mit.edu	37	2	207509344	207509344	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:207509344G>A	uc010fuh.1	+	1	559	c.384G>A	c.(382-384)gcG>gcA	p.A128A		NM_001102659	NP_001096129			Homo sapiens hCG1657980 (LOC200726), mRNA.																LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)		TCTCAGCAGCGCAGCCACAGC	0.488												
R3HDML	140902	broad.mit.edu	37	20	42965819	42965819	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr20:42965819G>A	uc002xls.1	+	0	194	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	Homo sapiens R3H domain containing-like (R3HDML), mRNA.	8						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GCCCAGCACCGTGGGCCTGGC	0.647												
SLC17A9	63910	broad.mit.edu	37	20	61595026	61595026	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr20:61595026C>T	uc002yea.4	+	6	1000	c.816C>T	c.(814-816)gaC>gaT	p.D272D	SLC17A9_uc002ydz.4_Silent_p.D266D|SLC17A9_uc011aap.1_Silent_p.D292D	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	272					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTTCCCCGACGCCAAGGTGA	0.667												
PWP2	5822	broad.mit.edu	37	21	45545899	45545899	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr21:45545899T>C	uc002zeb.3	+	15	2063	c.1973T>C	c.(1972-1974)tTg>tCg	p.L658S		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	658						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TAGGAATTTTTGAACCGAAGA	0.537												
TSPEAR	54084	broad.mit.edu	37	21	45919792	45919792	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr21:45919792C>T	uc002zfe.1	-	11	1950	c.1884G>A	c.(1882-1884)gcG>gcA	p.A628A	TSPEAR_uc010gpv.1_Silent_p.A560A	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	628					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGCTGTGCACCGCCACGAAGC	0.706												
ZNF280B	140883	broad.mit.edu	37	22	22843649	22843649	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr22:22843649G>A	uc002zwc.1	-	3	851	c.75C>T	c.(73-75)gaC>gaT	p.D25D	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Silent_p.D25D	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CAGCATCTTCGTCATCTACTT	0.378												
SCUBE1	80274	broad.mit.edu	37	22	43603579	43603579	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr22:43603579C>T	uc003bdt.2	-	20	2902	c.2775G>A	c.(2773-2775)ggG>ggA	p.G925G		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	925					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CGTACAGGCGCCCATCGCGCA	0.597												
MOV10L1	54456	broad.mit.edu	37	22	50588117	50588117	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr22:50588117G>A	uc003bjj.3	+	19	2784	c.2701G>A	c.(2701-2703)Ggg>Agg	p.G901R	MOV10L1_uc003bjk.4_Missense_Mutation_p.G901R|MOV10L1_uc011arp.2_Missense_Mutation_p.G881R|MOV10L1_uc003bjl.3_Missense_Mutation_p.G28R|MOV10L1_uc003bjm.1_5'UTR	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	901					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CATTCCTCTGGGGCTGATGTC	0.562											OREG0026674	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DNAH12	201625	broad.mit.edu	37	3	57493504	57493504	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr3:57493504C>A	uc003dit.2	-	7	944	c.763G>T	c.(763-765)Gca>Tca	p.A255S	DNAH12_uc003diu.2_Missense_Mutation_p.A255S	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	255	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTCTCTTCTGCGTTTCTAGTT	0.333												
MORC1	27136	broad.mit.edu	37	3	108682419	108682419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr3:108682419delT	uc003dxl.3	-	26	2728	c.2641delA	c.(2641-2643)atafs	p.I881fs	MORC1_uc011bhn.2_Frame_Shift_Del_p.I860fs	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	881					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCCTCTTTATTTTTTTTTCA	0.284												
SEMA5B	54437	broad.mit.edu	37	3	122632727	122632727	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr3:122632727C>T	uc003efz.1	-	14	2414	c.2110G>A	c.(2110-2112)Gtg>Atg	p.V704M	SEMA5B_uc011bju.1_Missense_Mutation_p.V646M|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.V704M|SEMA5B_uc010hro.1_Missense_Mutation_p.V646M|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	704	TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTCTTGCCCACGCAGATGCGG	0.657												
RTP1	132112	broad.mit.edu	37	3	186917605	186917605	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr3:186917605G>A	uc003frg.3	+	1	569	c.539G>A	c.(538-540)cGc>cAc	p.R180H		NM_153708	NP_714919	P59025	RTP1_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.	180					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GTGGCCAGCCGCCAGGACAAC	0.682												
CCDC149	91050	broad.mit.edu	37	4	24878210	24878210	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:24878210T>C	uc003grc.3	-	1	272	c.173A>G	c.(172-174)aAt>aGt	p.N58S	CCDC149_uc003grd.3_Missense_Mutation_p.N58S|CCDC149_uc011bxr.2_Missense_Mutation_p.N58S|CCDC149_uc003gre.3_Missense_Mutation_p.N3S	NM_001130726	NP_001124198	B4DZG3	B4DZG3_HUMAN	Homo sapiens coiled-coil domain containing 149 (CCDC149), transcript variant 2, mRNA.	58										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CCGGAGCTGATTGGCCATGAG	0.517												
EPHA5	2044	broad.mit.edu	37	4	66217156	66217156	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:66217156C>A	uc003hcy.3	-	13	2652	c.2459G>T	c.(2458-2460)gGa>gTa	p.G820V	EPHA5_uc003hcx.3_Missense_Mutation_p.G752V|EPHA5_uc003hcz.3_Missense_Mutation_p.G798V|EPHA5_uc011cah.2_Missense_Mutation_p.G821V|EPHA5_uc011cai.2_Missense_Mutation_p.G799V|EPHA5_uc003hda.2_Missense_Mutation_p.G821V	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	820	Protein kinase.			G -> E (in Ref. 3; CAD97914).	cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCGGGAAAGTCCAAAGTCAGA	0.443										TSP Lung(17;0.13)		
GK2	2712	broad.mit.edu	37	4	80328891	80328891	+	Missense_Mutation	SNP	C	C	A	rs147498656	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:80328891C>A	uc003hlu.3	-	0	482	c.464G>T	c.(463-465)cGt>cTt	p.R155L		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	155					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAGCATCCAACGAAGTTTTAC	0.408												
SPARCL1	8404	broad.mit.edu	37	4	88414795	88414795	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:88414795T>C	uc010ikm.3	-	4	1729	c.1157A>G	c.(1156-1158)cAa>cGa	p.Q386R	SPARCL1_uc011cdc.2_Missense_Mutation_p.Q261R|SPARCL1_uc003hqs.4_Missense_Mutation_p.Q386R|SPARCL1_uc011cdd.2_Missense_Mutation_p.Q261R	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	386					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTTTTCTCTTTGCTCCTCAAT	0.443												
FAM198B	51313	broad.mit.edu	37	4	159052126	159052126	+	Silent	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:159052126T>C	uc003ipq.4	-	4	1595	c.1188A>G	c.(1186-1188)agA>agG	p.R396R	FAM198B_uc003ipp.4_Silent_p.R388R|FAM198B_uc003ipr.4_Silent_p.R388R	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	388						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CCTTGCGAGGTCTGAATCCAC	0.413												
AHRR	57491	broad.mit.edu	37	5	428029	428029	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:428029C>T	uc003jav.3	+	8	925	c.882C>T	c.(880-882)ccC>ccT	p.P294P	AHRR_uc003jaw.3_Silent_p.P276P|AHRR_uc010isy.3_Silent_p.P122P|AHRR_uc010isz.3_Silent_p.P272P|AHRR_uc003jax.3_Silent_p.P35P|AHRR_uc003jay.3_Silent_p.P132P	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TTGCGGCACCCGTTCTCCTCC	0.577												
SLC6A19	340024	broad.mit.edu	37	5	1216774	1216774	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:1216774C>T	uc003jbw.4	+	6	1045	c.989C>T	c.(988-990)aCa>aTa	p.T330I		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	330					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.A329T(2)|p.T330T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTCCGCGCCACACAGCGCTAC	0.607												
GZMK	3003	broad.mit.edu	37	5	54329635	54329635	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:54329635G>A	uc003jpl.1	+	4	720	c.676G>A	c.(676-678)Gct>Act	p.A226T		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	226	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.A226S(2)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGTCTTCCACGCTATAGTCTC	0.453												
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:67589138G>A	uc003jva.3	+	9	1706	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(11)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
SLCO4C1	353189	broad.mit.edu	37	5	101599411	101599411	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:101599411G>A	uc003knm.3	-	3	1163	c.876C>T	c.(874-876)taC>taT	p.Y292Y		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	292					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CAACATCAATGTATATGGTTA	0.358												
PCDHB5	26167	broad.mit.edu	37	5	140516927	140516927	+	Missense_Mutation	SNP	C	C	G	rs138297526		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:140516927C>G	uc003liq.3	+	0	2128	c.1911C>G	c.(1909-1911)caC>caG	p.H637Q		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	637	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCACAGGCTGGTGG	0.697												
PCDHB7	56129	broad.mit.edu	37	5	140554075	140554075	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:140554075C>T	uc003lit.3	+	0	1833	c.1659C>T	c.(1657-1659)gaC>gaT	p.D553D		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	553	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D553Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACGCCAACGACA	0.721												
PCDHGC5	56113	broad.mit.edu	37	5	140720777	140720777	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:140720777C>T	uc003ljk.2	+	0	2424	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.R747W|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	757					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGGGGTTCGGGCTTTCCT	0.627												
HLA-J	3137	broad.mit.edu	37	6	29977342	29977342	+	Missense_Mutation	SNP	A	A	T	rs116382006	by1000genomes	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:29977342A>T	uc021yty.1	+	4	388	c.370A>T	c.(370-372)Agg>Tgg	p.R124W	HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Missense_Mutation_p.R121W					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		TGGGACTGAGAGGCAAGATTT	0.438												
DNAH8	1769	broad.mit.edu	37	6	38850799	38850799	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:38850799T>G	uc021yzh.1	+	53	8081	c.7972T>G	c.(7972-7974)Ttg>Gtg	p.L2658V	DNAH8_uc003ooe.2_Missense_Mutation_p.L2441V	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACAAATTTTTTGATAGACAC	0.323												
SLC35B2	347734	broad.mit.edu	37	6	44222858	44222858	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:44222858delT	uc003oxd.3	-	3	1020	c.884delA	c.(883-885)tatfs	p.Y295fs	SLC35B2_uc011dvt.2_Frame_Shift_Del_p.Y198fs|SLC35B2_uc011dvu.2_Frame_Shift_Del_p.Y162fs|SLC35B2_uc021yzy.1_5'Flank	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Homo sapiens solute carrier family 35, member B2 (SLC35B2), mRNA.	295					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGACATCTTATAGGCAAACAG	0.532												
GSTA5	221357	broad.mit.edu	37	6	52699018	52699018	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:52699018C>T	uc003pba.1	-	4	405	c.335G>A	c.(334-336)tGt>tAt	p.C112Y		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA.	112	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.C112R(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CTCTGGTTGACATATGAGCAG	0.373												
MYO6	4646	broad.mit.edu	37	6	76545638	76545638	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:76545638G>C	uc003pih.1	+	6	797	c.518G>C	c.(517-519)gGa>gCa	p.G173A	MYO6_uc003pig.1_Missense_Mutation_p.G173A|MYO6_uc003pii.1_Missense_Mutation_p.G173A	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	173	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAATCCTATGGAACAGGTCAA	0.279												
SIM1	6492	broad.mit.edu	37	6	100896034	100896034	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:100896034C>T	uc003pqj.4	-	6	1305	c.838G>A	c.(838-840)Gcg>Acg	p.A280T	SIM1_uc021zdg.1_Missense_Mutation_p.A280T|SIM1_uc010kcu.3_Missense_Mutation_p.A280T	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	280	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AAATGGTGCGCGCAGCGCAGG	0.622												
ASCC3	10973	broad.mit.edu	37	6	101073206	101073206	+	Silent	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:101073206A>G	uc003pqk.3	-	29	4976	c.4647T>C	c.(4645-4647)atT>atC	p.I1549I		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1549	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AATGGCTTCTAATTGCTGTTG	0.368												
SYNE1	23345	broad.mit.edu	37	6	152554981	152554981	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:152554981G>A	uc021zhb.1	-	109	20870	c.20647C>T	c.(20647-20649)Cgc>Tgc	p.R6883C	SYNE1_uc003qos.4_Missense_Mutation_p.R1407C|SYNE1_uc003qot.4_Missense_Mutation_p.R6812C|SYNE1_uc003qou.4_Missense_Mutation_p.R6883C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6883					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTATCAATGCGCGACAGCTCA	0.512										HNSCC(10;0.0054)		
PDE10A	10846	broad.mit.edu	37	6	165808689	165808689	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:165808689G>A	uc003qun.3	-	15	1701	c.1456C>T	c.(1456-1458)Cgg>Tgg	p.R486W	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.R416W|PDE10A_uc003quo.3_Missense_Mutation_p.R496W	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	486					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CCACAGGACCGATGAACCATG	0.383												
SDK1	221935	broad.mit.edu	37	7	4050739	4050739	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:4050739C>A	uc003smx.3	+	14	2412	c.2273C>A	c.(2272-2274)aCa>aAa	p.T758K	SDK1_uc010kso.3_Missense_Mutation_p.T34K	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	758	Fibronectin type-III 1.				cell adhesion	integral to membrane		p.T758K(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCGCCGAGACAAGCAGGTGC	0.597												
SDK1	221935	broad.mit.edu	37	7	4189057	4189057	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:4189057G>A	uc003smx.3	+	29	4726	c.4587G>A	c.(4585-4587)tcG>tcA	p.S1529S	SDK1_uc010kso.3_Silent_p.S805S|SDK1_uc003smy.3_Silent_p.S16S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1529	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTACTCCTCGTCCATCAGCC	0.682												
FAM188B	84182	broad.mit.edu	37	7	30830978	30830978	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:30830978C>T	uc003tbt.3	+	4	938	c.861C>T	c.(859-861)gcC>gcT	p.A287A	FAM188B_uc010kwe.3_Silent_p.A258A	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	287										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAACCACTGCCAGCAGCCCTC	0.637												
EGFR	1956	broad.mit.edu	37	7	55220329	55220329	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:55220329G>A	uc003tqk.3	+	5	965	c.719G>A	c.(718-720)tGc>tAc	p.C240Y	EGFR_uc003tqh.3_Missense_Mutation_p.C240Y|EGFR_uc003tqi.3_Missense_Mutation_p.C240Y|EGFR_uc003tqj.3_Missense_Mutation_p.C240Y|EGFR_uc022adm.1_Missense_Mutation_p.C240Y|EGFR_uc010kzg.2_Missense_Mutation_p.C195Y|EGFR_uc022adn.1_Missense_Mutation_p.C195Y|EGFR_uc011kco.2_Missense_Mutation_p.C187Y|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	240					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCTGCAGGCTGCACAGGCCCC	0.647		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
PHKG1	5260	broad.mit.edu	37	7	56151084	56151084	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:56151084T>C	uc011kdb.1	-	6	725	c.530A>G	c.(529-531)aAc>aGc	p.N177S	PSPH_uc003trj.3_Intron|PHKG1_uc003try.1_Missense_Mutation_p.N39S|PHKG1_uc003trz.1_Missense_Mutation_p.N145S|PHKG1_uc011kdc.1_Missense_Mutation_p.N136S|PHKG1_uc011kdd.1_Missense_Mutation_p.N91S	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	Homo sapiens phosphorylase kinase, gamma 1 (muscle) (PHKG1), mRNA.	145	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGCACGATGTTGAGTTTGTG	0.527												
CALN1	83698	broad.mit.edu	37	7	71571179	71571179	+	Silent	SNP	G	G	A	rs139754746		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:71571179G>A	uc003twb.4	-	3	736	c.345C>T	c.(343-345)agC>agT	p.S115S	CALN1_uc003twa.4_Silent_p.S73S|CALN1_uc003twc.4_Silent_p.S73S	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	73						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592												
KCND2	3751	broad.mit.edu	37	7	119915031	119915031	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:119915031C>T	uc003vjj.1	+	0	1310	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	115					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.Y115Y(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCTCTGCTTACGATGAAGAAC	0.542												
CCDC136	64753	broad.mit.edu	37	7	128445464	128445464	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:128445464G>A	uc003vnv.2	+	5	1250	c.834G>A	c.(832-834)acG>acA	p.T278T	CCDC136_uc003vnu.2_Silent_p.T316T|CCDC136_uc003vnx.2_Silent_p.T94T|CCDC136_uc010llq.2_5'UTR|CCDC136_uc003vny.2_5'Flank	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	278	Glu-rich.					integral to membrane	protein binding	p.T278T(3)|p.T394T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TGAGTATGACGTCAGCAGAGT	0.502												
TRPV6	55503	broad.mit.edu	37	7	142570125	142570125	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:142570125C>T	uc003wbx.2	-	14	2124	c.1895_splice	c.e14+1	p.R632_splice	TRPV6_uc003wbw.1_Splice_Site_p.R418_splice|TRPV6_uc010lou.1_Splice_Site_p.R503_splice	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	632					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TATCACTCACCGCAGGAACCA	0.662												
MSR1	4481	broad.mit.edu	37	8	16012638	16012638	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:16012638G>A	uc010lsu.3	-	5	951	c.887C>T	c.(886-888)cCg>cTg	p.P296L	MSR1_uc003wwz.3_Missense_Mutation_p.P278L|MSR1_uc003wxa.3_Missense_Mutation_p.P278L|MSR1_uc003wxb.3_Missense_Mutation_p.P278L|MSR1_uc011kxz.2_Missense_Mutation_p.P52L	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	278	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTTTTCACCCGGGGGTCCAGG	0.398												
PRDM14	63978	broad.mit.edu	37	8	70964463	70964463	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:70964463C>A	uc003xym.3	-	7	1767	c.1565G>T	c.(1564-1566)tGt>tTt	p.C522F		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGATTTACCACAGTACTTGCA	0.517												
MTDH	92140	broad.mit.edu	37	8	98731338	98731338	+	Missense_Mutation	SNP	G	G	A	rs143317071		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:98731338G>A	uc003yhz.3	+	9	1770	c.1442G>A	c.(1441-1443)cGt>cAt	p.R481H	MTDH_uc010mbf.3_Non-coding_Transcript	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	Homo sapiens metadherin (MTDH), mRNA.	481					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	p.T480T(1)|p.R481S(1)|p.T480A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TCTAAAACCCGTCCAAAACAG	0.333												
WISP1	8840	broad.mit.edu	37	8	134239690	134239690	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:134239690G>A	uc003yub.3	+	4	947	c.841G>A	c.(841-843)Gca>Aca	p.A281T	WISP1_uc003yuc.3_Missense_Mutation_p.A194T|WISP1_uc010meb.3_Missense_Mutation_p.A109T|WISP1_uc010mec.3_Missense_Mutation_p.G129D|WISP1_uc010med.3_Missense_Mutation_p.A36T|WISP1_uc003yud.3_Non-coding_Transcript	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	281	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCAGCCAGAGGCATCCATGAA	0.527												
KIAA0020	9933	broad.mit.edu	37	9	2837296	2837296	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:2837296T>C	uc003zhp.1	-	2	284	c.188A>G	c.(187-189)aAg>aGg	p.K63R	KIAA0020_uc003zhq.1_Missense_Mutation_p.K63R	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	63						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388												
FAM75C1	441452	broad.mit.edu	37	9	90536630	90536630	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:90536630G>A	uc010mqi.3	+	3	1837	c.1808G>A	c.(1807-1809)cGt>cAt	p.R603H	FAM75C1_uc004apq.4_Missense_Mutation_p.R586H	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GTGAGTGTGCGTCGATCCTGG	0.512												
BICD2	23299	broad.mit.edu	37	9	95481762	95481762	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:95481762G>A	uc004asp.1	-	4	1222	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	BICD2_uc004aso.1_Missense_Mutation_p.R389C	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	389					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCTGTGAGGCGGGTCACCTTC	0.647												
SH2D3C	10044	broad.mit.edu	37	9	130507103	130507103	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:130507103A>G	uc004bsc.3	-	6	1682	c.1540T>C	c.(1540-1542)Tcc>Ccc	p.S514P	SH2D3C_uc010mxo.3_Missense_Mutation_p.S354P|SH2D3C_uc004bry.3_Missense_Mutation_p.S356P|SH2D3C_uc004brz.4_Missense_Mutation_p.S160P|SH2D3C_uc011mak.2_Missense_Mutation_p.S160P|SH2D3C_uc004bsb.3_Missense_Mutation_p.S446P|SH2D3C_uc004bsa.3_Missense_Mutation_p.S357P	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	514					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.T513N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCTGGCTGGAGGTCTCAGTC	0.622												
NTNG2	84628	broad.mit.edu	37	9	135042315	135042315	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:135042315A>C	uc004cbh.2	+	1	873	c.97A>C	c.(97-99)Acc>Ccc	p.T33P		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	33					axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGAGGGCCCCACCTGGGAGTT	0.607												
COL5A1	1289	broad.mit.edu	37	9	137716532	137716532	+	Silent	SNP	C	C	T	rs149981025		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:137716532C>T	uc004cfe.3	+	61	5167	c.4785C>T	c.(4783-4785)gaC>gaT	p.D1595D	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1595	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGCTGGACGACGGGAATGGCG	0.627												
KDM6A	7403	broad.mit.edu	37	X	44929255	44929255	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chrX:44929255G>A	uc011mkz.2	+	17	2886	c.2511G>A	c.(2509-2511)atG>atA	p.M837I	KDM6A_uc022bvi.1_Missense_Mutation_p.M455I|KDM6A_uc010nhk.2_Missense_Mutation_p.M751I|KDM6A_uc004dge.4_Missense_Mutation_p.M785I|KDM6A_uc011mla.2_Missense_Mutation_p.M740I|KDM6A_uc011mlb.2_Missense_Mutation_p.M792I|KDM6A_uc011mlc.2_Missense_Mutation_p.M489I|KDM6A_uc022bvj.1_Missense_Mutation_p.M706I|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.M424I	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	785					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)		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						CCTTGTTGATGGGAAAAGCCA	0.448			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""							
IL1RAPL2	26280	broad.mit.edu	37	X	105011554	105011554	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chrX:105011554C>T	uc004elz.1	+	10	2717	c.1961C>T	c.(1960-1962)cCc>cTc	p.P654L		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	654					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGACAGCTACCCCTTAATAAC	0.448												
MAGEC2	51438	broad.mit.edu	37	X	141290669	141290669	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chrX:141290669C>T	uc022cfj.1	-	0	1105	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	MAGEC2_uc004fbu.2_Missense_Mutation_p.V369I	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	369						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAAGGAGACGTTGCTGGAC	0.502										HNSCC(46;0.14)		
