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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638		NA											False	1	False	12:49445039	0
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635		NA											False	1	False	16:72991713	0
MYH7B	57644	broad.mit.edu	37	20	33586211	33586212	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:33586211_33586212delAC	ENST00000262873.7	+	31	4079_4080	c.3987_3988delAC	c.(3985-3990)ctacagfs	p.Q1330fs		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1288						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GTGGGCGACTACAGACGGAAAG	0.649		NA											False	1	False	20:33586211	0
SLC12A5	57468	broad.mit.edu	37	20	44685140	44685142	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:44685140_44685142delAGA	ENST00000243964.3	+	23	3145_3147	c.3047_3049delAGA	c.(3046-3051)gagaag>gag	p.K1017del	SLC12A5_ENST00000454036.1_In_Frame_Del_p.K1040del	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1040					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCGGTGGCAGAGAAGAATAAGGG	0.635		NA											False	2	False	20:44685140	0
ANKRD36B	57730	broad.mit.edu	37	2	98205990	98205991	+	RNA	INS	-	-	TCC			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:98205990_98205991insTCC	ENST00000443455.1	-	0	336_337							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	NA											NA						CCCATTACCTTTCCTTCCTGTC	0.579		NA											False	1	True	2:98205990	0
ANKRD50	57182	broad.mit.edu	37	4	125599951	125599952	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:125599951_125599952insA	ENST00000504087.1	-	3	1658_1659	c.621_622insT	c.(619-624)tctaccfs	p.T208fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.T29fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	208										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GATAAGCTGGTAGACGTTTGTT	0.475		NA											False	1	False	4:125599951	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
HSD17B13	345275	broad.mit.edu	37	4	88243945	88243945	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:88243945A>G	ENST00000328546.4	-	1	113	c.49T>C	c.(49-51)Tcc>Ccc	p.S17P	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B13_ENST00000302219.6_Missense_Mutation_p.S17P	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	17						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TCCAAGTAGGAGTAGATGATG	0.468		NA											False	0	False	4:88243945	0
SYT5	6861	broad.mit.edu	37	19	55690401	55690401	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:55690401C>T	ENST00000590851.1	-	1	357	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	SYT5_ENST00000537500.1_Silent_p.P3P|SYT5_ENST00000354308.3_Silent_p.P3P			O00445	SYT5_HUMAN	synaptotagmin V	0					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TTGGGGGCTCCGGGAACATGG	0.677		NA											False	0	True	19:55690401	0
ARHGAP21	57584	broad.mit.edu	37	10	24959236	24959236	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr10:24959236T>G	ENST00000396432.2	-	3	640	c.154A>C	c.(154-156)Acg>Ccg	p.T52P		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	51	PDZ.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTTTTCAACGTAACTGTTTTG	0.343		NA											False	0	False	10:24959236	0
LPA	4018	broad.mit.edu	37	6	161006101	161006101	+	Silent	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:161006101C>T	ENST00000447678.1	-	27	4386	c.4266G>A	c.(4264-4266)agG>agA	p.R1422R	LPA_ENST00000316300.5_Silent_p.R1422R	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3930	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.R1422S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAATGGGATCCTCCGATGCC	0.443		NA											False	0	False	6:161006101	0
FAT1	2195	broad.mit.edu	37	4	187510158	187510158	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:187510158G>A	ENST00000441802.2	-	27	13564	c.13355C>T	c.(13354-13356)cCg>cTg	p.P4452L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4452					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAATTCGGGCGGTAACGGTGG	0.537		NA								HNSCC(5;0.00058)			False	0	False	4:187510158	0
HSD3B1	3283	broad.mit.edu	37	1	120057235	120057235	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:120057235G>A	ENST00000235547.6	+	4	1234	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	HSD3B1_ENST00000528909.1_Silent_p.R363R|HSD3B1_ENST00000369413.3_Silent_p.R363R	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	363					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TTGTGGACCGGCACAAGGAGA	0.517		NA											False	0	False	1:120057235	0
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353		NA											False	0	False	2:109371498	0
MYO5C	55930	broad.mit.edu	37	15	52534277	52534277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:52534277G>A	ENST00000261839.7	-	20	2685	c.2524C>T	c.(2524-2526)Cga>Tga	p.R842*	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	842	IQ 4.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AGGAATCCTCGGCTGTAGGCC	0.542		NA											False	0	False	15:52534277	0
TNXB	7148	broad.mit.edu	37	6	32063700	32063700	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:32063700C>T	ENST00000375244.3	-	3	2131	c.1930G>A	c.(1930-1932)Ggc>Agc	p.G644S	TNXB_ENST00000375247.2_Missense_Mutation_p.G644S|TNXB_ENST00000479795.1_Missense_Mutation_p.G644S			P22105	TENX_HUMAN	tenascin XB	644	EGF-like 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGTAGGGCCGGTGTAGCCT	0.687		NA											False	0	False	6:32063700	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251421	25251421	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:25251421A>C	ENST00000328086.7	-	7	3423	c.2620T>G	c.(2620-2622)Ttc>Gtc	p.F874V		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	874					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGGGCGCTGAAATGAGAACTG	0.458		NA											False	0	True	16:25251421	0
PCDHB7	0	broad.mit.edu	37	5	140552501	140552501	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:140552501G>A	ENST00000231137.3	+	1	259	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		29					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTGGCGCCGAACCGCTTCG	0.517		NA											False	0	False	5:140552501	0
KIF1A	547	broad.mit.edu	37	2	241697827	241697827	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:241697827G>A	ENST00000498729.2	-	26	2778	c.2532C>T	c.(2530-2532)acC>acT	p.T844T	KIF1A_ENST00000320389.7_Silent_p.T835T	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	835					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.T835T(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTCTCCGCCGGTCACCACGT	0.637		NA											False	0	False	2:241697827	0
ANXA2R	389289	broad.mit.edu	37	5	43040202	43040202	+	Translation_Start_Site	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:43040202C>T	ENST00000314890.3	-	0	1366					NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	NA							receptor activity				NA						AGTCTCTGCACTACCATCAGC	0.502		NA									OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	5:43040202	0
UNC13C	440279	broad.mit.edu	37	15	54825264	54825264	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:54825264C>T	ENST00000545554.1	+	25	5696	c.5696C>T	c.(5695-5697)aCa>aTa	p.T1899I	UNC13C_ENST00000260323.11_Splice_Site_p.T1899I|UNC13C_ENST00000537900.1_Splice_Site_p.T1897I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1899	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTGGACAAAACGTAAGTTTTT	0.338		NA											False	0	True	15:54825264	0
ITPR1	3708	broad.mit.edu	37	3	4718357	4718357	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:4718357C>T	ENST00000354582.6	+	24	3189	c.2839C>T	c.(2839-2841)Cgg>Tgg	p.R947W	ITPR1_ENST00000357086.4_Missense_Mutation_p.R938W|ITPR1_ENST00000443694.2_Missense_Mutation_p.R932W|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.R923W|ITPR1_ENST00000302640.8_Missense_Mutation_p.R932W|ITPR1_ENST00000423119.2_Missense_Mutation_p.R938W			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	947					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGTGGTGCTCCGGGGAGGAGG	0.562		NA											False	0	True	3:4718357	0
MAP1B	4131	broad.mit.edu	37	5	71494871	71494871	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:71494871C>T	ENST00000296755.7	+	5	5987	c.5689C>T	c.(5689-5691)Cgg>Tgg	p.R1897W		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1897						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAAGACCACCCGGACCTCAGA	0.453		NA											False	0	True	5:71494871	0
FBN3	84467	broad.mit.edu	37	19	8180474	8180474	+	Missense_Mutation	SNP	C	C	T	rs146523311		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:8180474C>T	ENST00000600128.1	-	30	4177	c.3763G>A	c.(3763-3765)Gag>Aag	p.E1255K	FBN3_ENST00000270509.2_Missense_Mutation_p.E1255K|FBN3_ENST00000601739.1_Missense_Mutation_p.E1255K			Q75N90	FBN3_HUMAN	fibrillin 3	1255	EGF-like 18; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTCGTGTTCTCGCAGTCCCCA	0.607		NA											False	0	False	19:8180474	0
KLK15	55554	broad.mit.edu	37	19	51330356	51330356	+	Missense_Mutation	SNP	G	G	A	rs61751959		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:51330356G>A	ENST00000326856.4	-	4	385	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	KLK15_ENST00000596931.1_Missense_Mutation_p.R86W|KLK15_ENST00000598239.1_Missense_Mutation_p.R87W|KLK15_ENST00000301421.2_Missense_Mutation_p.R87W|KLK15_ENST00000416184.1_Missense_Mutation_p.R87W	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	87	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GACGTGGTCCGTAGTTGCTCT	0.652		NA											False	0	False	19:51330356	0
IL2RA	3559	broad.mit.edu	37	10	6063598	6063598	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr10:6063598G>A	ENST00000379959.3	-	4	599	c.426C>T	c.(424-426)ttC>ttT	p.F142F	IL2RA_ENST00000379954.1_Intron|IL2RA_ENST00000256876.6_Silent_p.F142F	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	142	Sushi 2.				cell proliferation	integral to membrane	interleukin-2 receptor activity	p.F142F(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCCCCACCACGAAATGATAAA	0.512		NA											False	0	True	10:6063598	0
ADAMTS19	171019	broad.mit.edu	37	5	128863477	128863477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:128863477C>T	ENST00000274487.4	+	5	1250	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	369	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCTGAGTGTGCAGGTCAATCT	0.299		NA											False	0	False	5:128863477	0
ULK1	8408	broad.mit.edu	37	12	132396530	132396530	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr12:132396530C>T	ENST00000321867.4	+	13	1343	c.992C>T	c.(991-993)cCg>cTg	p.P331L		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	331	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTGGCCTCCCCGGCTGACACC	0.632		NA											False	0	True	12:132396530	0
KL	9365	broad.mit.edu	37	13	33635841	33635841	+	Silent	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:33635841C>T	ENST00000380099.3	+	4	2633	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	875	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCAATGGAATCGATGACGGGC	0.517		NA											False	0	False	13:33635841	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968431	4968431	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chrY:4968431G>C	ENST00000333703.4	+	5	3292	c.2779G>C	c.(2779-2781)Gac>Cac	p.D927H	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D938H|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D938H	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	938					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTCACACTAGACCTTCCTAT	0.428		NA											False	0	False	Y:4968431	0
ABCC12	94160	broad.mit.edu	37	16	48174686	48174686	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:48174686G>A	ENST00000311303.3	-	4	914	c.569C>T	c.(568-570)aCg>aTg	p.T190M	ABCC12_ENST00000416054.1_Missense_Mutation_p.T190M|ABCC12_ENST00000448542.1_Missense_Mutation_p.T190M	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	190	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCGGATGGCCGTGCGGTAGTT	0.532		NA											False	0	False	16:48174686	0
LMBR1	64327	broad.mit.edu	37	7	156520649	156520649	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:156520649T>C	ENST00000353442.5	-	12	1204	c.968A>G	c.(967-969)gAa>gGa	p.E323G	LMBR1_ENST00000540390.1_Missense_Mutation_p.E302G|LMBR1_ENST00000359422.4_Missense_Mutation_p.E171G|LMBR1_ENST00000354505.4_Missense_Mutation_p.E364G	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	NA						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CATTGCTGTTTCATCAACCAA	0.363		NA											False	0	True	7:156520649	0
GLI3	2737	broad.mit.edu	37	7	42018305	42018305	+	Missense_Mutation	SNP	C	C	T	rs148502119		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:42018305C>T	ENST00000395925.3	-	11	1624	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	514					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CACCTGCACACGAACTCCTTC	0.443		NA							Pallister-Hall syndrome;Greig Cephalopolysyndactyly				False	0	False	7:42018305	0
PRSS35	167681	broad.mit.edu	37	6	84233890	84233890	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:84233890G>A	ENST00000536636.1	+	3	1075	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	PRSS35_ENST00000369700.3_Missense_Mutation_p.E244K	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	244	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GAGGATTGCCGAAGGGAGGCC	0.567		NA											False	0	False	6:84233890	0
TP53	7157	broad.mit.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr17:7578370C>T	ENST00000420246.2	-	5	692		c.e5+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	NA					activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCTGCTCACCATCGCTATC	0.632		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7578370	0
PLOD1	5351	broad.mit.edu	37	1	12030859	12030859	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:12030859G>A	ENST00000196061.4	+	17	1915	c.1888G>A	c.(1888-1890)Ggc>Agc	p.G630S	PLOD1_ENST00000376369.3_Missense_Mutation_p.G677S	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	630					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCTCTACCCCGGCTACTACAC	0.607		NA											False	0	True	1:12030859	0
KIF22	3835	broad.mit.edu	37	16	29814108	29814108	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:29814108C>A	ENST00000561482.1	+	9	1732	c.1095C>A	c.(1093-1095)agC>agA	p.S365R	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.S365R|KIF22_ENST00000160827.4_Missense_Mutation_p.S433R|KIF22_ENST00000400751.5_Missense_Mutation_p.S365R	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	433					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGAAGCTAAGCAGCATGGACC	0.617		NA											False	0	False	16:29814108	0
MAP1B	4131	broad.mit.edu	37	5	71495084	71495084	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:71495084G>A	ENST00000296755.7	+	5	6200	c.5902G>A	c.(5902-5904)Gaa>Aaa	p.E1968K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1968						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CAGCCCCCCCGAAGTGAGTGG	0.478		NA											False	0	True	5:71495084	0
ERBB2	2064	broad.mit.edu	37	17	37863277	37863277	+	Silent	SNP	T	T	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr17:37863277T>A	ENST00000406381.2	+	4	528	c.18T>A	c.(16-18)ccT>ccA	p.P6P	ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540147.1_Silent_p.P6P|ERBB2_ENST00000584601.1_Silent_p.P6P|ERBB2_ENST00000578199.1_Silent_p.P6P|ERBB2_ENST00000269571.5_Silent_p.P36P|ERBB2_ENST00000584450.1_Silent_p.P36P|ERBB2_ENST00000541774.1_Silent_p.P21P|ERBB2_ENST00000540042.1_Silent_p.P6P	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	36					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGCGGCTCCCTGCCAGTCCCG	0.642		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			False	0	True	17:37863277	0
USP31	57478	broad.mit.edu	37	16	23119457	23119457	+	Silent	SNP	A	A	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:23119457A>G	ENST00000219689.7	-	2	680	c.681T>C	c.(679-681)caT>caC	p.H227H		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	227					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CCTGGGCATCATGTTGGGAAT	0.478		NA											False	0	False	16:23119457	0
ZNF181	339318	broad.mit.edu	37	19	35232318	35232318	+	Silent	SNP	T	T	G	rs2607243		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:35232318T>G	ENST00000392232.3	+	6	1332	c.1164T>G	c.(1162-1164)acT>acG	p.T388T	ZNF181_ENST00000459757.2_Silent_p.T343T|ZNF181_ENST00000492450.1_Silent_p.T344T			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAATTCATACTCAAGAAAAAC	0.388		NA											False	0	False	19:35232318	0
FASTKD5	60493	broad.mit.edu	37	20	3128938	3128938	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:3128938C>T	ENST00000380266.3	-	2	1100	c.779G>A	c.(778-780)aGg>aAg	p.R260K	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	260					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GTTTAAAAACCTAGGTACTTT	0.398		NA											False	0	False	20:3128938	0
SLAIN1	122060	broad.mit.edu	37	13	78293775	78293775	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:78293775G>A	ENST00000466548.1	+	3	695	c.669G>A	c.(667-669)gcG>gcA	p.A223A	SLAIN1_ENST00000418532.1_Silent_p.A4A|SLAIN1_ENST00000267219.8_Silent_p.A4A|SLAIN1_ENST00000488699.1_Silent_p.A81A	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	223										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TGGAAGCAGCGAGACGTTCCC	0.468		NA											False	0	False	13:78293775	0
DCLK2	166614	broad.mit.edu	37	4	151160950	151160950	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:151160950G>A	ENST00000296550.7	+	11	2377	c.1623G>A	c.(1621-1623)gcG>gcA	p.A541A	DCLK2_ENST00000302176.8_Silent_p.A558A|DCLK2_ENST00000506325.1_Silent_p.A540A	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	541	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTGGGCTTGCGACTGTGGTAG	0.458		NA											False	0	False	4:151160950	0
DHX38	9785	broad.mit.edu	37	16	72132878	72132878	+	Nonsense_Mutation	SNP	A	A	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:72132878A>T	ENST00000268482.3	+	6	1326	c.817A>T	c.(817-819)Aaa>Taa	p.K273*	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	273					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCCCTCCTACAAATATAACGA	0.592		NA											False	0	True	16:72132878	0
WFDC10A	140832	broad.mit.edu	37	20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:44258532A>T	ENST00000372643.3	+	1	368	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	27						extracellular region	serine-type endopeptidase inhibitor activity			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587		NA									OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	20:44258532	0
CACNA1H	8912	broad.mit.edu	37	16	1246017	1246017	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:1246017G>A	ENST00000348261.5	+	5	885	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V213M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V213M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	213					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CATCAACCGCGTGCCTAGTAA	0.652		NA											False	0	False	16:1246017	0
RYR3	6263	broad.mit.edu	37	15	34130031	34130031	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:34130031G>A	ENST00000389232.4	+	89	11920	c.11850G>A	c.(11848-11850)ggG>ggA	p.G3950G	RYR3_ENST00000415757.3_Silent_p.G3945G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3950	EF-hand.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G3949G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATGGAAGGGCAAAAACAGT	0.408		NA											False	0	True	15:34130031	0
PASK	23178	broad.mit.edu	37	2	242065640	242065640	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:242065640C>T	ENST00000403638.3	-	10	2781	c.2690G>A	c.(2689-2691)aGc>aAc	p.S897N	PASK_ENST00000405260.1_Missense_Mutation_p.S897N|PASK_ENST00000358649.4_Missense_Mutation_p.S897N|PASK_ENST00000234040.4_Missense_Mutation_p.S897N|PASK_ENST00000544142.1_Missense_Mutation_p.S711N|PASK_ENST00000539818.1_Missense_Mutation_p.S681N	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	897					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		ATGGTAGCAGCTCCCGGAGTA	0.647		NA											False	0	False	2:242065640	0
ASPM	259266	broad.mit.edu	37	1	197072286	197072286	+	Missense_Mutation	SNP	C	C	T	rs149033840		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:197072286C>T	ENST00000367409.4	-	18	6351	c.6095G>A	c.(6094-6096)cGt>cAt	p.R2032H	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2032	IQ 14.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTCATACCACGATAAGCTGA	0.333		NA											False	0	False	1:197072286	0
FERMT2	10979	broad.mit.edu	37	14	53386031	53386031	+	Silent	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr14:53386031C>T	ENST00000395631.2	-	3	417	c.201G>A	c.(199-201)aaG>aaA	p.K67K	FERMT2_ENST00000553373.1_Silent_p.K67K|FERMT2_ENST00000399304.3_Silent_p.K67K|FERMT2_ENST00000343279.4_Silent_p.K67K|FERMT2_ENST00000341590.3_Silent_p.K67K			Q96AC1	FERM2_HUMAN	fermitin family member 2	67					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AAGTTCTCTTCTTTTCCCACC	0.393		NA											False	0	True	14:53386031	0
SSX2IP	117178	broad.mit.edu	37	1	85124124	85124124	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:85124124C>T	ENST00000437941.2	-	8	1226	c.874G>A	c.(874-876)Ggg>Agg	p.G292R	SSX2IP_ENST00000605755.1_Missense_Mutation_p.G292R|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000342203.3_Missense_Mutation_p.G319R|SSX2IP_ENST00000370612.4_Missense_Mutation_p.G319R	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	319					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTTAGTTCCCCGGCATCTTCT	0.438		NA											False	0	True	1:85124124	0
CPB2	1361	broad.mit.edu	37	13	46638808	46638808	+	Silent	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:46638808C>T	ENST00000181383.4	-	8	787	c.771G>A	c.(769-771)agG>agA	p.R257R	CPB2_ENST00000439329.3_Silent_p.R220R|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	257					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		AAGCAAAGTTCCTATTCAGGT	0.413		NA											False	0	False	13:46638808	0
NUB1	51667	broad.mit.edu	37	7	151072988	151072988	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:151072988G>A	ENST00000568733.1	+	13	1588	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N	NUB1_ENST00000355851.4_Missense_Mutation_p.D484N|NUB1_ENST00000413040.2_Missense_Mutation_p.D494N|NUB1_ENST00000566856.1_Missense_Mutation_p.D470N			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	484	UBA 3.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCCTGAAACCGACAACCGTCA	0.493		NA											False	0	False	7:151072988	0
ARFGEF2	10564	broad.mit.edu	37	20	47569336	47569336	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:47569336G>A	ENST00000371917.4	+	5	518	c.518G>A	c.(517-519)aGc>aAc	p.S173N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	173					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TATTTGGCCAGCAAAAATCTC	0.443		NA											False	0	False	20:47569336	0
GCC2	9648	broad.mit.edu	37	2	109092224	109092224	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:109092224A>G	ENST00000309863.6	+	9	3692	c.2978A>G	c.(2977-2979)gAa>gGa	p.E993G		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	993					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTGTGAAGGAAGAACTTGAA	0.313		NA											False	0	True	2:109092224	0
DSCAM	1826	broad.mit.edu	37	21	41710288	41710288	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr21:41710288C>T	ENST00000400454.1	-	8	2000	c.1523G>A	c.(1522-1524)cGa>cAa	p.R508Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	508	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTCATTGGTCGAATGCTTGC	0.403		NA											False	0	False	21:41710288	0
CPXM2	119587	broad.mit.edu	37	10	125557591	125557591	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr10:125557591C>T	ENST00000241305.3	-	6	944	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	264	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ACCATGGGGACGGGTAGCTCA	0.483		NA											False	0	True	10:125557591	0
OR7G1	125962	broad.mit.edu	37	19	9225729	9225729	+	Silent	SNP	C	C	T	rs138779373	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:9225729C>T	ENST00000293614.1	-	1	710	c.711G>A	c.(709-711)gcG>gcA	p.A237A	OR7G1_ENST00000541538.1_Silent_p.A237A			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AGGTGGAAAACGCTTTATACT	0.418		NA											False	0	True	19:9225729	0
ERBB4	2066	broad.mit.edu	37	2	212589855	212589855	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:212589855G>A	ENST00000342788.4	-	6	997	c.687C>T	c.(685-687)tgC>tgT	p.C229C	ERBB4_ENST00000402597.1_Silent_p.C229C|ERBB4_ENST00000436443.1_Silent_p.C229C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	229	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTCGATGGCAGCAGTCACTGA	0.483		NA								TSP Lung(8;0.080)			False	0	False	2:212589855	0
RFC4	5984	broad.mit.edu	37	3	186518951	186518951	+	Silent	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:186518951C>T	ENST00000392481.2	-	3	446	c.165G>A	c.(163-165)caG>caA	p.Q55Q	RFC4_ENST00000433496.1_Silent_p.Q55Q|RFC4_ENST00000296273.2_Silent_p.Q55Q	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	55					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CCACTTCTTCCTGGAAAGCAA	0.383		NA											False	0	False	3:186518951	0
SEPT1	1731	broad.mit.edu	37	16	30393182	30393182	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:30393182G>A	ENST00000321367.3	-	5	390	c.345C>T	c.(343-345)gcC>gcT	p.A115A	SEPT1_ENST00000605106.1_Silent_p.A73A|SEPT1_ENST00000571393.1_Silent_p.A68A	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	68					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			GGCGCTCAATGGCCAGGGTCT	0.562		NA											False	0	False	16:30393182	0
PPM1F	9647	broad.mit.edu	37	22	22277807	22277807	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr22:22277807G>A	ENST00000407142.1	-	6	1579	c.519C>T	c.(517-519)gcC>gcT	p.A173A	PPM1F_ENST00000538191.1_Silent_p.A237A|PPM1F_ENST00000263212.5_Silent_p.A341A			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	341					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AAGCTGCATCGGCCTCCCCAG	0.632		NA											False	0	False	22:22277807	0
SCARF1	8578	broad.mit.edu	37	17	1538332	1538332	+	Missense_Mutation	SNP	C	C	T	rs147642060	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr17:1538332C>T	ENST00000263071.4	-	11	2262	c.2213G>A	c.(2212-2214)cGg>cAg	p.R738Q	SCARF1_ENST00000348987.3_Missense_Mutation_p.R652Q|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	738	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCTTTTTCCGATTCAGGGC	0.632		NA											False	0	False	17:1538332	0
WNT3A	89780	broad.mit.edu	37	1	228246856	228246856	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:228246856G>A	ENST00000284523.1	+	4	827	c.749G>A	c.(748-750)cGc>cAc	p.R250H	WNT3A_ENST00000366753.2_Missense_Mutation_p.R250H	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	250					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CGGGAGTCCCGCGGCTGGGTG	0.657		NA											False	0	True	1:228246856	0
HMCN1	83872	broad.mit.edu	37	1	186030997	186030997	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:186030997C>T	ENST00000271588.4	+	47	7556	c.7327C>T	c.(7327-7329)Cgg>Tgg	p.R2443W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R2443W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2443	Ig-like C2-type 22.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGGATGCTACGGCTGATGCA	0.398		NA											False	0	False	1:186030997	0
WBSCR17	64409	broad.mit.edu	37	7	71142270	71142270	+	Silent	SNP	G	G	A	rs145007893		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:71142270G>A	ENST00000333538.5	+	9	2113	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	493	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TATTGTATCCGTGCCATGGCT	0.537		NA											False	0	False	7:71142270	0
IFNGR1	3459	broad.mit.edu	37	6	137524778	137524778	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:137524778C>A	ENST00000367739.4	-	5	712	c.591G>T	c.(589-591)gaG>gaT	p.E197D	IFNGR1_ENST00000543628.1_Missense_Mutation_p.E169D|IFNGR1_ENST00000367735.2_3'UTR	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	197					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GGCACTGAATCTCGTCACAAT	0.378		NA											False	0	False	6:137524778	0
CHAMP1	283489	broad.mit.edu	37	13	115091201	115091201	+	Silent	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:115091201C>T	ENST00000361283.1	+	3	2193	c.1884C>T	c.(1882-1884)gaC>gaT	p.D628D		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	628	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding				NA						AGAGCTCAGACGCTGAGCTTA	0.408		NA											False	0	False	13:115091201	0
ZNF562	54811	broad.mit.edu	37	19	9764114	9764114	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:9764114G>T	ENST00000448622.1	-	6	954	c.792C>A	c.(790-792)aaC>aaA	p.N264K	ZNF562_ENST00000453792.2_Missense_Mutation_p.N195K|ZNF562_ENST00000537617.1_Missense_Mutation_p.N148K|ZNF562_ENST00000453372.2_Missense_Mutation_p.N264K|ZNF562_ENST00000541032.1_Missense_Mutation_p.N227K|ZNF562_ENST00000590155.1_Missense_Mutation_p.N263K|ZNF562_ENST00000293648.4_Missense_Mutation_p.N192K	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						ATTTCCCACAGTTCTTAGTCT	0.378		NA											False	0	False	19:9764114	0
TRPM6	140803	broad.mit.edu	37	9	77376995	77376995	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr9:77376995C>T	ENST00000451710.3	-	26	4829	c.4592G>A	c.(4591-4593)cGc>cAc	p.R1531H	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1526H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1526H|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1531H|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1531H			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1531					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCTGTATCTGCGGAGAGGATT	0.418		NA											False	0	False	9:77376995	0
MISP	126353	broad.mit.edu	37	19	758042	758042	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:758042C>T	ENST00000215582.6	+	2	1199	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W		NM_173481.2	NP_775752.1			mitotic spindle positioning	NA											NA						GGAAGACCACCGGCGGGAGGG	0.682		NA											False	0	False	19:758042	0
RGMA	56963	broad.mit.edu	37	15	93588701	93588701	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:93588701C>T	ENST00000329082.7	-	4	1151	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	RGMA_ENST00000542321.2_Missense_Mutation_p.V278I|RGMA_ENST00000557301.1_Missense_Mutation_p.V302I|RGMA_ENST00000556658.1_Missense_Mutation_p.V185I|RGMA_ENST00000425933.2_Missense_Mutation_p.V278I|RGMA_ENST00000543599.1_Missense_Mutation_p.V278I|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000538818.1_Missense_Mutation_p.V185I	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	294					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GGCATGCGGACGGCAAAGGTC	0.622		NA											False	0	False	15:93588701	0
KIAA1468	57614	broad.mit.edu	37	18	59912054	59912054	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:59912054G>A	ENST00000256858.6	+	11	1926	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	KIAA1468_ENST00000398130.2_Missense_Mutation_p.D560N			Q9P260	K1468_HUMAN	KIAA1468	560							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TAAAGAGCGAGATCAGCTTCT	0.378		NA											False	0	False	18:59912054	0
NUF2	83540	broad.mit.edu	37	1	163317716	163317716	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:163317716G>A	ENST00000271452.3	+	12	1391	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	NUF2_ENST00000524800.1_Missense_Mutation_p.R324H|NUF2_ENST00000367900.3_Missense_Mutation_p.R371H	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	371	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.R371H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CAATACAAACGCACAGTAATT	0.318		NA											False	0	False	1:163317716	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074441	76074441	+	RNA	SNP	A	A	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:76074441A>T	ENST00000395215.3	+	0	620										NA											NA						CGAGCTGCAGAGAAGCGGTCC	0.557		NA											False	0	False	15:76074441	0
LAMA4	3910	broad.mit.edu	37	6	112496518	112496518	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:112496518C>T	ENST00000230538.7	-	11	1751	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	LAMA4_ENST00000424408.2_Missense_Mutation_p.E445K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E445K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E445K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	452	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CACCTACGTTCGTAAGCCTCA	0.483		NA											False	0	False	6:112496518	0
DCLK3	85443	broad.mit.edu	37	3	36779648	36779648	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:36779648T>C	ENST00000416516.2	-	2	993	c.503A>G	c.(502-504)aAg>aGg	p.K168R		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	168						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CATTGGGCCCTTCCCCATATC	0.567		NA											False	0	True	3:36779648	0
TCF4	6925	broad.mit.edu	37	18	52899837	52899837	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:52899837C>T	ENST00000354452.3	-	17	2163	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	TCF4_ENST00000561992.1_Missense_Mutation_p.E388K|TCF4_ENST00000568740.1_Missense_Mutation_p.E493K|TCF4_ENST00000566286.1_Missense_Mutation_p.E515K|TCF4_ENST00000457482.3_Missense_Mutation_p.E358K|TCF4_ENST00000565018.2_Missense_Mutation_p.E518K|TCF4_ENST00000570177.2_Missense_Mutation_p.E388K|TCF4_ENST00000356073.4_Missense_Mutation_p.E518K|TCF4_ENST00000537578.1_Missense_Mutation_p.E494K|TCF4_ENST00000540999.1_Missense_Mutation_p.E494K|TCF4_ENST00000544241.2_Missense_Mutation_p.E447K|TCF4_ENST00000566279.1_Missense_Mutation_p.E458K|TCF4_ENST00000561831.3_Missense_Mutation_p.E358K|TCF4_ENST00000543082.1_Missense_Mutation_p.E476K|TCF4_ENST00000567880.1_Missense_Mutation_p.E458K|TCF4_ENST00000537856.3_Missense_Mutation_p.E388K|TCF4_ENST00000564228.1_Missense_Mutation_p.E447K|TCF4_ENST00000564403.2_Missense_Mutation_p.E524K|TCF4_ENST00000398339.1_Missense_Mutation_p.E620K|TCF4_ENST00000568673.1_Missense_Mutation_p.E494K|TCF4_ENST00000564999.1_Missense_Mutation_p.E518K|TCF4_ENST00000570287.2_Missense_Mutation_p.E358K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	518					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCATCACCCTCGTCATCGGAT	0.468		NA											False	0	False	18:52899837	0
PPP1R16B	26051	broad.mit.edu	37	20	37536753	37536753	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:37536753C>T	ENST00000299824.1	+	10	1300	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R329W	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	371					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CCTGTGGCAGCGGAGTGCAGC	0.602		NA											False	0	False	20:37536753	0
LRRFIP1	9208	broad.mit.edu	37	2	238671269	238671269	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:238671269A>G	ENST00000244815.5	+	10	1081	c.841A>G	c.(841-843)Aaa>Gaa	p.K281E	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.K249E|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.K305E	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	305					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGTGGAGGTGAAAAATGAAAT	0.433		NA											False	0	True	2:238671269	0
ADCY1	107	broad.mit.edu	37	7	45699701	45699701	+	Silent	SNP	G	G	A	rs149589767		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:45699701G>A	ENST00000297323.7	+	7	1390	c.1368G>A	c.(1366-1368)ccG>ccA	p.P456P	ADCY1_ENST00000432715.1_Silent_p.P231P	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	456			P -> L (in dbSNP:rs12721473).		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AGGTAGAACCGGGTTACGGAC	0.507		NA											False	0	True	7:45699701	0
UVRAG	7405	broad.mit.edu	37	11	75851957	75851957	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:75851957G>A	ENST00000356136.3	+	15	1841	c.1600G>A	c.(1600-1602)Gtc>Atc	p.V534I	UVRAG_ENST00000528420.1_Missense_Mutation_p.V433I|UVRAG_ENST00000531818.1_Missense_Mutation_p.V162I|UVRAG_ENST00000533454.1_Missense_Mutation_p.V162I|UVRAG_ENST00000539288.1_Missense_Mutation_p.V162I|UVRAG_ENST00000538870.1_Missense_Mutation_p.V90I|UVRAG_ENST00000532130.1_Missense_Mutation_p.V162I	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	534					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TGTGACCACCGTCCCCTCCAT	0.493		NA											False	0	False	11:75851957	0
CDC42BPA	8476	broad.mit.edu	37	1	227223274	227223274	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:227223274G>A	ENST00000366769.3	-	24	4420	c.3129C>T	c.(3127-3129)aaC>aaT	p.N1043N	CDC42BPA_ENST00000366765.3_Silent_p.N1056N|CDC42BPA_ENST00000366767.3_Silent_p.N962N|CDC42BPA_ENST00000366764.2_Silent_p.N1015N|CDC42BPA_ENST00000366766.2_Silent_p.N1078N|CDC42BPA_ENST00000535525.1_Silent_p.N1023N|CDC42BPA_ENST00000334218.5_Silent_p.N1043N	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1056					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTGGAGCTTTGTTTACACAAG	0.373		NA											False	0	True	1:227223274	0
RNF17	56163	broad.mit.edu	37	13	25444786	25444786	+	Silent	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:25444786C>T	ENST00000255324.5	+	32	4408	c.4356C>T	c.(4354-4356)agC>agT	p.S1452S	RNF17_ENST00000339524.3_Silent_p.S462S|RNF17_ENST00000381921.1_Silent_p.S1410S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1452					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)		GTGGAGTCAGCGGGGAATCAG	0.438		NA											False	0	True	13:25444786	0
ZIC2	7546	broad.mit.edu	37	13	100637726	100637726	+	Silent	SNP	G	G	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:100637726G>T	ENST00000376335.3	+	3	1682	c.1389G>T	c.(1387-1389)gcG>gcT	p.A463A	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	463	Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cggcggcggcggctgcggcgg	0.816		NA											False	0	True	13:100637726	0
EPHA7	2045	broad.mit.edu	37	6	93956606	93956606	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:93956606C>T	ENST00000369303.4	-	15	2814	c.2630G>A	c.(2629-2631)cGt>cAt	p.R877H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	877	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R877L(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTTTCAGCACGCTCCTTTTG	0.423		NA											False	0	False	6:93956606	0
C9orf89	84270	broad.mit.edu	37	9	95869990	95869990	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr9:95869990G>A	ENST00000375464.2	+	2	170	c.42G>A	c.(40-42)acG>acA	p.T14T		NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	14	CARD.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TGCAGGACACGCCTTTCCTGA	0.562		NA											False	0	False	9:95869990	0
LIPG	9388	broad.mit.edu	37	18	47110141	47110141	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:47110141G>A	ENST00000261292.4	+	8	1651	c.1373G>A	c.(1372-1374)cGg>cAg	p.R458Q	LIPG_ENST00000427224.2_Missense_Mutation_p.R384Q	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	458	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GAAACCCAGCGGAAGTAAGTG	0.562		NA											False	0	False	18:47110141	0
NBPF10	100132406	broad.mit.edu	37	1	145324377	145324377	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:145324377C>A	ENST00000342960.5	+	28	3607	c.3572C>A	c.(3571-3573)gCg>gAg	p.A1191E	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1191										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)		GAGGTAGTAGCGCCTGAAGTC	0.483		NA											False	0	False	1:145324377	0
LZTS1	11178	broad.mit.edu	37	8	20107374	20107374	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr8:20107374G>A	ENST00000381569.1	-	4	2007	c.1650C>T	c.(1648-1650)taC>taT	p.Y550Y	LZTS1_ENST00000522290.1_Silent_p.Y491Y|LZTS1_ENST00000265801.6_Silent_p.Y550Y			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	550					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ACATGGCCACGTAGCTCTGCT	0.627		NA											False	0	False	8:20107374	0
COL6A2	0	broad.mit.edu	37	21	47545822	47545822	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr21:47545822C>T	ENST00000300527.4	+	26	2197	c.2093C>T	c.(2092-2094)gCg>gTg	p.A698V	COL6A2_ENST00000310645.5_Missense_Mutation_p.A698V|COL6A2_ENST00000409416.1_Missense_Mutation_p.A698V|COL6A2_ENST00000357838.4_Missense_Mutation_p.A698V|COL6A2_ENST00000397763.1_Missense_Mutation_p.A698V	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	698	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAGTGGATTGCGGGCGGCACC	0.602		NA											False	0	True	21:47545822	0
SPATA2L	124044	broad.mit.edu	37	16	89764252	89764252	+	Silent	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:89764252C>T	ENST00000289805.5	-	3	833	c.765G>A	c.(763-765)gcG>gcA	p.A255A	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	255										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGCCAGCTCCGCCGGGGGCG	0.701		NA											False	0	False	16:89764252	0
FGD4	121512	broad.mit.edu	37	12	32754273	32754273	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr12:32754273A>G	ENST00000427716.2	+	6	1176	c.752A>G	c.(751-753)aAt>aGt	p.N251S	FGD4_ENST00000534526.2_Missense_Mutation_p.N388S|FGD4_ENST00000531134.1_Missense_Mutation_p.N336S|FGD4_ENST00000546442.1_Missense_Mutation_p.N158S|FGD4_ENST00000525053.1_Missense_Mutation_p.N363S|FGD4_ENST00000266482.3_Missense_Mutation_p.N3S|FGD4_ENST00000381025.3_Missense_Mutation_p.N3S	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	251	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GAGATGGTGAATAAAATCTTT	0.348		NA											False	0	False	12:32754273	0
MBD4	8930	broad.mit.edu	37	3	129155916	129155916	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:129155916G>A	ENST00000429544.2	-	3	766	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	MBD4_ENST00000509587.1_Intron|MBD4_ENST00000503197.1_Missense_Mutation_p.P191S|MBD4_ENST00000249910.1_Missense_Mutation_p.P191S|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.P191S	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	191					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTACTTGGCGGCATAAACACA	0.443		NA						Base excision repair (BER), DNA glycosylases					False	0	False	3:129155916	0
ATXN2L	11273	broad.mit.edu	37	16	28841228	28841228	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:28841228C>T	ENST00000336783.4	+	8	1050	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	ATXN2L_ENST00000395547.2_Missense_Mutation_p.R295C|ATXN2L_ENST00000564304.1_Missense_Mutation_p.R295C|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R295C|ATXN2L_ENST00000570200.1_Missense_Mutation_p.R295C|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R295C|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R295C	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	295						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCGAGAGCTGCGTGCGGCCCA	0.577		NA											False	0	True	16:28841228	0
DISP1	84976	broad.mit.edu	37	1	223175862	223175862	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:223175862G>A	ENST00000284476.6	+	8	1287	c.1123G>A	c.(1123-1125)Gtt>Att	p.V375I		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	375					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGAGCGAGACGTTTCTCATAC	0.527		NA									OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:223175862	0
PCDH8	5100	broad.mit.edu	37	13	53420319	53420319	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:53420319G>A	ENST00000377942.3	-	1	2456	c.2253C>T	c.(2251-2253)atC>atT	p.I751I	PCDH8_ENST00000338862.4_Silent_p.I751I	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	751					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGATGATGACGATCAGCGGCG	0.701		NA											False	0	False	13:53420319	0
WDR90	197335	broad.mit.edu	37	16	708985	708985	+	Silent	SNP	C	C	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:708985C>G	ENST00000549091.1	+	24	3077	c.2985C>G	c.(2983-2985)ctC>ctG	p.L995L	WDR90_ENST00000293879.4_Silent_p.L995L	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	995										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCGTCTTCCTCTGGGATGTCC	0.642		NA											False	0	False	16:708985	0
CIB2	10518	broad.mit.edu	37	15	78401612	78401612	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:78401612C>T	ENST00000258930.3	-	4	639	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	CIB2_ENST00000539011.1_Missense_Mutation_p.R61Q|CIB2_ENST00000557846.1_Missense_Mutation_p.R55Q|CIB2_ENST00000560618.1_Missense_Mutation_p.R61Q	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	104	EF-hand 2.						calcium ion binding	p.R104Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CTTGAGCTCTCGGGGAGCCGA	0.552		NA											False	0	True	15:78401612	0
TMEM47	83604	broad.mit.edu	37	X	34657384	34657384	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chrX:34657384G>A	ENST00000275954.3	-	2	605	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	116						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AAGCATGACCGCAACAGGTCT	0.443		NA											False	0	False	X:34657384	0
LILRA1	11024	broad.mit.edu	37	19	55106342	55106342	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:55106342C>T	ENST00000453777.1	+	4	453	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R95W|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	95	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACACACAGGGCGGTATCGCTG	0.572		NA											False	0	True	19:55106342	0
HNRNPCL1	343069	broad.mit.edu	37	1	12908073	12908073	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:12908073T>C	ENST00000317869.6	-	2	295	c.70A>G	c.(70-72)Aac>Gac	p.N24D		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1	NA										NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ACAAGAGTGTTGAGATTCCCA	0.453		NA											False	0	False	1:12908073	0
WDR89	112840	broad.mit.edu	37	14	64066609	64066609	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr14:64066609A>T	ENST00000394942.2	-	2	140	c.52T>A	c.(52-54)Tta>Ata	p.L18I	WDR89_ENST00000267522.3_Missense_Mutation_p.L18I	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	18										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TTGGTTCCTAAGGAACATTTA	0.368		NA											False	0	False	14:64066609	0
ZNF605	100289635	broad.mit.edu	37	12	133502024	133502024	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr12:133502024C>G	ENST00000360187.4	-	5	2209	c.1861G>C	c.(1861-1863)Gag>Cag	p.E621Q	ZNF605_ENST00000392321.3_Missense_Mutation_p.E652Q	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		GTCCCACACTCATTGCATCCA	0.383		NA											False	0	False	12:133502024	0
SLC12A3	0	broad.mit.edu	37	16	56904081	56904081	+	Silent	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:56904081C>T	ENST00000438926.2	+	5	704	c.675C>T	c.(673-675)ttC>ttT	p.F225F	SLC12A3_ENST00000262502.5_Silent_p.F224F|SLC12A3_ENST00000566786.1_Silent_p.F224F|SLC12A3_ENST00000563236.1_Silent_p.F225F	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	225					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTTTCGCTTTCGCCAATGCCG	0.647		NA											False	0	True	16:56904081	0
HIVEP3	59269	broad.mit.edu	37	1	41976495	41976495	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:41976495C>T	ENST00000372584.1	-	8	7859	c.6845G>A	c.(6844-6846)gGa>gAa	p.G2282E	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2283E|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G2283E|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2282E	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2283					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCCGGGCCTCCGCCGGTCCT	0.682		NA											False	0	False	1:41976495	0
STAC	6769	broad.mit.edu	37	3	36547239	36547239	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:36547239G>A	ENST00000273183.3	+	8	1133	c.833G>A	c.(832-834)gGa>gAa	p.G278E	STAC_ENST00000457375.2_Splice_Site_p.G217E|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	278					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						ctctttcAGGGATCTCTTTCC	0.338		NA											False	0	True	3:36547239	0
CKAP2L	150468	broad.mit.edu	37	2	113514074	113514074	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:113514074A>G	ENST00000541405.1	-	4	902	c.379T>C	c.(379-381)Tca>Cca	p.S127P	CKAP2L_ENST00000302450.6_Missense_Mutation_p.S292P			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	292						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GGTTTCTTTGATGACTGAACT	0.403		NA											False	0	False	2:113514074	0
FAR1	84188	broad.mit.edu	37	11	13749183	13749183	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:13749183G>T	ENST00000532502.1	+	2	2038	c.210G>T	c.(208-210)ttG>ttT	p.L70F	FAR1_ENST00000354817.3_Missense_Mutation_p.L446F			Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	446					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						AGTACGTATTGAATGAAGAAA	0.373		NA											False	0	True	11:13749183	0
ALS2CL	259173	broad.mit.edu	37	3	46728567	46728567	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:46728567C>T	ENST00000318962.4	-	5	523	c.440G>A	c.(439-441)gGc>gAc	p.G147D	ALS2CL_ENST00000415953.1_Missense_Mutation_p.G147D	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	147					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CAGCGATGCGCCCACCGAGCC	0.677		NA											False	0	True	3:46728567	0
TBCCD1	55171	broad.mit.edu	37	3	186276243	186276243	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:186276243G>A	ENST00000424280.1	-	3	934	c.455C>T	c.(454-456)tCt>tTt	p.S152F	TBCCD1_ENST00000338733.5_Missense_Mutation_p.S152F|TBCCD1_ENST00000446782.1_Missense_Mutation_p.S56F	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	152					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CAGGTCAGGAGACTGAGATTT	0.403		NA											False	0	False	3:186276243	0
TEK	7010	broad.mit.edu	37	9	27158047	27158047	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr9:27158047G>T	ENST00000380036.4	+	2	713	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	TEK_ENST00000406359.4_Nonsense_Mutation_p.E91*|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	91	Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTGGAAGAGAGAAAAGGCTAG	0.448		NA											False	0	True	9:27158047	0
IGHG1	0	broad.mit.edu	37	14	106204162	106204162	+	RNA	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr14:106204162C>T	ENST00000390548.2	-	0	1136										NA											NA						GGTCCACCACCGAGGAGAAGA	0.667		NA											False	0	False	14:106204162	0
TBC1D10A	83874	broad.mit.edu	37	22	30722767	30722767	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr22:30722767G>A	ENST00000215790.7	-	1	268	c.104C>T	c.(103-105)aCc>aTc	p.T35I	TBC1D10A_ENST00000403477.3_Missense_Mutation_p.T35I|TBC1D10A_ENST00000490449.1_5'UTR	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	35						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GAGTTCGTCGGTGGTTGCGGC	0.711		NA											False	0	False	22:30722767	0
MYH15	22989	broad.mit.edu	37	3	108172884	108172884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:108172884G>A	ENST00000273353.3	-	22	2484	c.2428C>T	c.(2428-2430)Cga>Tga	p.R810*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	810	IQ.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AATTTGATTCGCATCAGTTTG	0.448		NA											False	0	False	3:108172884	0
OR2M4	26245	broad.mit.edu	37	1	248402386	248402386	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:248402386G>T	ENST00000306687.1	+	1	156	c.156G>T	c.(154-156)gaG>gaT	p.E52D		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTACATAGAGAAACAGCTCC	0.478		NA											False	0	True	1:248402386	0
GPR39	2863	broad.mit.edu	37	2	133402714	133402714	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:133402714C>G	ENST00000329321.3	+	2	1366	c.897C>G	c.(895-897)aaC>aaG	p.N299K	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	299						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGATGCCCAACCAGATTCGGA	0.547		NA											False	0	False	2:133402714	0
UBQLN4	56893	broad.mit.edu	37	1	156012004	156012004	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:156012004G>A	ENST00000368309.3	-	8	1382	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	430						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGTTCCCCGCGAAGAGCGGCA	0.617		NA											False	0	False	1:156012004	0
ABCB6	10058	broad.mit.edu	37	2	220080843	220080843	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:220080843G>A	ENST00000265316.3	-	5	1346	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	ABCB6_ENST00000439002.2_Missense_Mutation_p.R298W	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	344	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTCCACCCGCCGAGACGTG	0.687		NA											False	0	True	2:220080843	0
OR2A14	135941	broad.mit.edu	37	7	143826573	143826573	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:143826573C>T	ENST00000408899.2	+	1	423	c.368C>T	c.(367-369)gCg>gTg	p.A123V		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GATCGCTATGCGGACATCTGC	0.493		NA											False	0	False	7:143826573	0
NLRP7	199713	broad.mit.edu	37	19	55450945	55450945	+	Silent	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:55450945C>T	ENST00000588756.1	-	6	1728	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	NLRP7_ENST00000328092.5_Silent_p.T414T|NLRP7_ENST00000590030.1_Silent_p.T414T|NLRP7_ENST00000448121.2_Silent_p.T414T|NLRP7_ENST00000446217.1_Silent_p.T442T|NLRP7_ENST00000592784.1_Silent_p.T414T|NLRP7_ENST00000340844.2_Silent_p.T414T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	414	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGAGGCTCAGCGTCCGCAGCG	0.711		NA											False	0	False	19:55450945	0
S100A3	6274	broad.mit.edu	37	1	153520200	153520200	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:153520200C>A	ENST00000368713.3	-	3	460	c.264G>T	c.(262-264)gaG>gaT	p.E88D	S100A4_ENST00000368714.1_Intron|S100A3_ENST00000368712.1_Missense_Mutation_p.E88D	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	88							calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTGAAGTACTCGTGGCAGT	0.597		NA											False	0	False	1:153520200	0
CSMD2	114784	broad.mit.edu	37	1	34092119	34092119	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:34092119C>T	ENST00000373381.4	-	33	5439	c.5263G>A	c.(5263-5265)Gca>Aca	p.A1755T	CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.A628T|CSMD2_ENST00000373388.2_5'UTR	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1715	Sushi 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGGCTGGTGCGAGGCCTTTG	0.542		NA											False	0	False	1:34092119	0
PKNOX2	63876	broad.mit.edu	37	11	125281736	125281736	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:125281736G>A	ENST00000298282.9	+	10	1182	c.911G>A	c.(910-912)cGt>cAt	p.R304H	PKNOX2_ENST00000542175.1_Missense_Mutation_p.R240H|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	304						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AATATAATGCGTTCTTGGCTC	0.517		NA											False	0	False	11:125281736	0
PHLPP1	23239	broad.mit.edu	37	18	60563163	60563163	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:60563163T>G	ENST00000400316.4	+	6	2608	c.827T>G	c.(826-828)cTt>cGt	p.L276R	PHLPP1_ENST00000262719.5_Missense_Mutation_p.L788R	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	788					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						GTGGATAAACTTTGTATGTCT	0.383		NA											False	0	True	18:60563163	0
MCAM	4162	broad.mit.edu	37	11	119182565	119182565	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:119182565C>T	ENST00000392814.1	-	5	1814	c.1085G>A	c.(1084-1086)aGc>aAc	p.S362N	MCAM_ENST00000264036.4_Missense_Mutation_p.S413N			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	413	Ig-like C2-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GCCGGGTATGCTGGGCACAGA	0.617		NA											False	0	False	11:119182565	0
APLP2	334	broad.mit.edu	37	11	129993656	129993656	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:129993656G>A	ENST00000263574.5	+	7	1144	c.1072G>A	c.(1072-1074)Gct>Act	p.A358T	APLP2_ENST00000278756.7_Missense_Mutation_p.A368T|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000543137.1_Missense_Mutation_p.A265T|APLP2_ENST00000338167.5_Missense_Mutation_p.A358T|APLP2_ENST00000528499.1_Intron	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	358	BPTI/Kunitz inhibitor.				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TTATTGTATGGCTGTGTGTAA	0.562		NA											False	0	False	11:129993656	0
CTNNB1	1499	broad.mit.edu	37	3	41266136	41266136	+	Missense_Mutation	SNP	T	T	C	rs121913407		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:41266136T>C	ENST00000349496.5	+	3	413	c.133T>C	c.(133-135)Tct>Cct	p.S45P	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CACAGCTCCTTCTCTGAGTGG	0.502		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				False	0	False	3:41266136	0
