Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CDHR2	54825	broad.mit.edu	37	5	176011607	176011607	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:176011607C>A	ENST00000510636.1	+	19	2599	c.2325C>A	c.(2323-2325)aaC>aaA	p.N775K	CDHR2_ENST00000506348.1_Missense_Mutation_p.N775K|CDHR2_ENST00000261944.5_Missense_Mutation_p.N775K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	775	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCGTCTTCAACTTGACAGTGA	0.612000													22	105					4.72057e-08	5.4766e-08	1	1	0
YY1AP1	55249	broad.mit.edu	37	1	155630680	155630680	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:155630680C>T	ENST00000368340.5	-	10	1483	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	YY1AP1_ENST00000347088.5_Missense_Mutation_p.E341K|YY1AP1_ENST00000355499.4_Missense_Mutation_p.E341K|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.E310K|YY1AP1_ENST00000295566.4_Missense_Mutation_p.E387K|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.E187K|YY1AP1_ENST00000359205.5_Missense_Mutation_p.E330K|YY1AP1_ENST00000361831.5_Missense_Mutation_p.E330K|YY1AP1_ENST00000368339.5_Missense_Mutation_p.E479K|YY1AP1_ENST00000311573.5_Missense_Mutation_p.E310K|YY1AP1_ENST00000404643.1_Missense_Mutation_p.E321K|YY1AP1_ENST00000405763.3_3'UTR|YY1AP1_ENST00000368330.2_Missense_Mutation_p.E341K	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGCCGCAGTTCTTCCTGGATG	0.448000													13	133					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100608222	100608222	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:100608222G>T	ENST00000308731.7	-	18	2031	c.1868C>A	c.(1867-1869)tCa>tAa	p.S623*	BTK_ENST00000372880.1_Nonsense_Mutation_p.S447*	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	623	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TACCTTCTCTGAAGCCAGATG	0.428000									Agammaglobulinemia, X-linked				9	302					2.74318e-10	3.30517e-10	1	1	0
CACNB2	783	broad.mit.edu	37	10	18828582	18828582	+	Missense_Mutation	SNP	G	G	A	rs142735478		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:18828582G>A	ENST00000396576.2	+	13	2248	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N	CACNB2_ENST00000377328.1_Missense_Mutation_p.D388N|CACNB2_ENST00000324631.7_Missense_Mutation_p.D638N|CACNB2_ENST00000282343.8_Missense_Mutation_p.D610N|CACNB2_ENST00000377315.4_Missense_Mutation_p.D590N|CACNB2_ENST00000352115.6_Missense_Mutation_p.D614N|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.D586N|CACNB2_ENST00000377319.3_Missense_Mutation_p.D545N|CACNB2_ENST00000377329.4_Missense_Mutation_p.D584N	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	638					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.D583N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTGTGAAAAGGATGGAGAAGT	0.493000													12	119					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10129492	10129492	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:10129492C>T	ENST00000591589.1	+	3	597	c.408C>T	c.(406-408)ttC>ttT	p.F136F	RDH8_ENST00000171214.1_Silent_p.F116F			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	116			H -> Q (in dbSNP:rs1122206).		estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCAACTTTTTCGGAGCTGTCC	0.572000													37	118					0	0	1	0	0
WFDC5	149708	broad.mit.edu	37	20	43739334	43739334	+	Silent	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr20:43739334G>T	ENST00000307971.4	-	2	246	c.168C>A	c.(166-168)ccC>ccA	p.P56P	WFDC5_ENST00000372789.4_Silent_p.P56P			Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5	56	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				TCCTGGTCAAGGGACACTGGC	0.592000													8	55					0.000673444	0.000716892	1	1	0
RHOT2	89941	broad.mit.edu	37	16	720761	720761	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:720761C>T	ENST00000315082.4	+	9	741	c.627C>T	c.(625-627)ctC>ctT	p.L209L	RHOT2_ENST00000569943.2_Intron	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	209	EF-hand 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				ACGAAGAGCTCAACGCTTTCC	0.662000													7	69					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854980	88854980	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:88854980A>G	ENST00000537554.1	-	2	3576	c.14T>C	c.(13-15)cTa>cCa	p.L5P	CNR1_ENST00000468898.1_Missense_Mutation_p.L5P|CNR1_ENST00000369501.2_Missense_Mutation_p.L5P|CNR1_ENST00000428600.2_Missense_Mutation_p.L5P|CNR1_ENST00000362094.5_Missense_Mutation_p.L5P|CNR1_ENST00000549890.1_Missense_Mutation_p.L5P|CNR1_ENST00000535130.1_Missense_Mutation_p.L5P|CNR1_ENST00000369499.2_Missense_Mutation_p.L5P	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	5					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AAGGCCATCTAGGATCGACTT	0.478000													23	163					0	0	1	0	0
YWHAQ	10971	broad.mit.edu	37	2	9725422	9725422	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:9725422T>C	ENST00000381844.4	-	5	894	c.731A>G	c.(730-732)gAa>gGa	p.E244G	YWHAQ_ENST00000238081.3_Missense_Mutation_p.E244G|YWHAQ_ENST00000474715.1_5'UTR			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	244					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		GATTTAGTTTTCAGCCCCTTC	0.383000													30	158					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003736	75003736	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:75003736G>A	ENST00000373359.2	-	1	1343	c.1151C>T	c.(1150-1152)cCa>cTa	p.P384L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	384	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCTGATTCTGGTTGCTGGAC	0.448000													16	269					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37217922	37217922	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:37217922C>G	ENST00000233099.5	-	34	5661	c.5566G>C	c.(5566-5568)Gat>Cat	p.D1856H	HEATR5B_ENST00000354531.2_Missense_Mutation_p.D1767H	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1856							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CTTACTTCATCAGGTGTAGGT	0.358000													7	131					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216243537	216243537	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:216243537C>T	ENST00000366943.2	-	30	6341	c.5955G>A	c.(5953-5955)gaG>gaA	p.E1985E	USH2A_ENST00000307340.3_Silent_p.E1985E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1985	Fibronectin type-III 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAATGTACTTCTCAATTACAC	0.493000										HNSCC(13;0.011)			11	118					0	0	1	0	0
EIF3G	8666	broad.mit.edu	37	19	10226703	10226703	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:10226703G>A	ENST00000253108.4	-	8	685	c.643C>T	c.(643-645)Ccg>Tcg	p.P215S		NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	215						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			AGGCTCGGCGGCACATACTTC	0.677000													8	39					0	0	1	0	0
RDM1	201299	broad.mit.edu	37	17	34257115	34257115	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:34257115C>T	ENST00000394529.3	-	1	658	c.172G>A	c.(172-174)Gac>Aac	p.D58N	RDM1_ENST00000394528.3_Missense_Mutation_p.D81N|RDM1_ENST00000425909.3_Missense_Mutation_p.D81N|RDM1_ENST00000419453.2_Missense_Mutation_p.D58N|RDM1_ENST00000431884.2_Missense_Mutation_p.D81N|RDM1_ENST00000591402.1_Missense_Mutation_p.D58N|RDM1_ENST00000394527.1_Missense_Mutation_p.D58N|RDM1_ENST00000430160.2_Missense_Mutation_p.D58N|RDM1_ENST00000293273.6_Missense_Mutation_p.D81N	NM_001163130.1	NP_001156602.1	Q8NG50	RDM1_HUMAN	RAD52 motif 1	81	Necessary for nuclear localization and for nucleolar accumulation in response to heat shock.|RRM.				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGCTTCCGGTCGCATGCCTTT	0.483000								Other identified genes with known or suspected DNA repair function					8	292					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15175033	15175033	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr9:15175033A>C	ENST00000355694.2	-	19	1978	c.1744T>G	c.(1744-1746)Ttc>Gtc	p.F582V	TTC39B_ENST00000512701.1_Missense_Mutation_p.F648V|TTC39B_ENST00000507993.1_Missense_Mutation_p.F483V|TTC39B_ENST00000380850.4_Missense_Mutation_p.F635V|TTC39B_ENST00000507285.1_Missense_Mutation_p.F483V|TTC39B_ENST00000297615.5_Missense_Mutation_p.F579V	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	582							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						GTTTCTAGGAACTTTATGGCC	0.393000													20	165					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131676092	131676092	+	Silent	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:131676092G>C	ENST00000368648.3	-	7	648	c.576C>G	c.(574-576)ctC>ctG	p.L192L	EBF3_ENST00000355311.5_Silent_p.L192L	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	192					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GATTGCACTTGAGGAAAAACT	0.373000													4	62					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131521528	131521528	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:131521528G>C	ENST00000423981.1	+	2	1993	c.1883G>C	c.(1882-1884)gGt>gCt	p.G628A	AMER3_ENST00000321420.4_Missense_Mutation_p.G628A	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GATACTTCCGGTAAAAATAAG	0.587000													3	69					0	0	1	0	0
RNF180	285671	broad.mit.edu	37	5	63510304	63510304	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:63510304G>C	ENST00000389100.4	+	4	1223	c.1151G>C	c.(1150-1152)aGa>aCa	p.R384T	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.R384T	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	384	Interaction with ZIC2 (By similarity).					integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AAGAATCTAAGAAGGAAACAA	0.398000													15	96					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67354630	67354630	+	Silent	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:67354630T>C	ENST00000304372.5	-	2	217	c.162A>G	c.(160-162)ctA>ctG	p.L54L	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	54	BTB 1.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TGTCGATAAATAGCCTCTGGC	0.483000													3	58					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35321407	35321407	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:35321407C>A	ENST00000374748.1	-	13	1439	c.1126G>T	c.(1126-1128)Gta>Tta	p.V376L	CUL2_ENST00000374749.3_Missense_Mutation_p.V376L|CUL2_ENST00000374751.3_Missense_Mutation_p.V376L|CUL2_ENST00000602371.1_Missense_Mutation_p.V319L|CUL2_ENST00000537177.1_Missense_Mutation_p.V395L|CUL2_ENST00000374742.1_Missense_Mutation_p.V376L|CUL2_ENST00000374746.1_Missense_Mutation_p.V376L			Q13617	CUL2_HUMAN	cullin 2	376					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CTGTAATTTACAACTGACGTA	0.368000													5	144					0.00307968	0.00320935	1	1	0
MGA	23269	broad.mit.edu	37	15	41991342	41991342	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:41991342C>T	ENST00000219905.7	+	5	2354	c.2173C>T	c.(2173-2175)Cct>Tct	p.P725S	MGA_ENST00000389936.4_Missense_Mutation_p.P725S|MGA_ENST00000566586.1_Missense_Mutation_p.P725S|MGA_ENST00000570161.1_Missense_Mutation_p.P725S|MGA_ENST00000545763.1_Missense_Mutation_p.P725S	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	725						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGTGATACATCCTGGTCTTCA	0.368000													3	36					0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99183552	99183552	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr14:99183552G>A	ENST00000325812.2	+	4	738	c.319G>A	c.(319-321)Gct>Act	p.A107T		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	107										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				TGCATTTTGTGCTACACCAAG	0.393000													5	110					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18499598	18499598	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:18499598G>A	ENST00000433979.1	+	11	1569	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E485K|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E485K|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.E485K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	485					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GGTAACAACTGAACTATCCAC	0.373000													19	224					0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58391832	58391832	+	Missense_Mutation	SNP	G	G	T	rs139216754		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:58391832G>T	ENST00000361987.4	+	2	520	c.440G>T	c.(439-441)gGa>gTa	p.G147V	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	147					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATTAATGTTGGAGATGGTGGT	0.483000													4	137					0.014758	0.0150882	1	1	0
RETNLB	84666	broad.mit.edu	37	3	108474669	108474669	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:108474669T>C	ENST00000295755.6	-	3	490	c.292A>G	c.(292-294)Agt>Ggt	p.S98G	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	98					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						TCCACCACACTGCACTGGCAG	0.567000													8	202					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521120	33521120	+	Silent	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:33521120C>A	ENST00000297307.5	-	1	292	c.207G>T	c.(205-207)tcG>tcT	p.S69S		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	69	DUF6 1.					integral to membrane											GCAGCTCCAGCGAGGGCAGGT	0.637000													41	266					2.24722e-20	2.8401e-20	1	1	0
SEPT7	989	broad.mit.edu	37	7	35872416	35872416	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:35872416G>T	ENST00000494488.2	+	2	33	c.33G>T	c.(31-33)aaG>aaT	p.K11N	SEPT7_ENST00000399035.3_Missense_Mutation_p.K24N|SEPT7_ENST00000350320.6_Missense_Mutation_p.K24N|SEPT7_ENST00000399034.2_Missense_Mutation_p.K26N|SEPT7_ENST00000469679.2_Missense_Mutation_p.K24N|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000435235.1_5'UTR			Q16181	SEPT7_HUMAN	septin 7	25					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						AGCAACAGAAGAACCTTGAAG	0.368000													9	177					0.000274275	0.000295144	1	1	0
SNRPN	6638	broad.mit.edu	37	15	25213119	25213119	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:25213119C>A	ENST00000554227.2	+	0	376				SNRPN_ENST00000400097.1_De_novo_Start_OutOfFrame|SNRPN_ENST00000346403.6_De_novo_Start_InFrame|SNRPN_ENST00000577565.1_De_novo_Start_InFrame|SNURF_ENST00000577949.1_Missense_Mutation_p.P51T|SNURF_ENST00000338327.4_Missense_Mutation_p.P51T|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000400100.1_De_novo_Start_OutOfFrame|SNRPN_ENST00000390687.4_De_novo_Start_OutOfFrame|SNRPN_ENST00000400098.1_De_novo_Start_OutOfFrame|SNURF_ENST00000338094.6_Missense_Mutation_p.P51T			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GCAGCAAGTACCTGTGGTGGA	0.433000									Prader-Willi syndrome				11	200					0.000422831	0.000453361	1	1	0
DFNA5	1687	broad.mit.edu	37	7	24738725	24738725	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:24738725G>A	ENST00000545231.1	-	12	2069	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	DFNA5_ENST00000342947.3_Silent_p.L471L|DFNA5_ENST00000409775.3_Silent_p.L471L|DFNA5_ENST00000419307.1_Silent_p.L307L|DFNA5_ENST00000409970.1_Silent_p.L307L			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	471					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GAGTCCTTCAGAATGACAGCT	0.438000													5	85					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127790721	127790721	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr9:127790721C>A	ENST00000336505.5	-	5	421	c.363G>T	c.(361-363)tgG>tgT	p.W121C	SCAI_ENST00000373549.4_Missense_Mutation_p.W144C	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	121	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						CTCCTATTTGCCAGCGCTTCA	0.328000													16	93					8.00594e-06	8.9558e-06	1	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:72663998T>G	ENST00000425256.1	-	0	902					NR_002164.1																						ATAGCCGGGGTCCTTGAATAC	0.488000													3	95					0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30953305	30953305	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr22:30953305G>A	ENST00000402321.1	-	2	392	c.75C>T	c.(73-75)ttC>ttT	p.F25F	GAL3ST1_ENST00000338911.5_Silent_p.F25F|GAL3ST1_ENST00000402369.1_Silent_p.F25F|GAL3ST1_ENST00000443111.2_Silent_p.F25F|GAL3ST1_ENST00000401975.1_Silent_p.F25F|GAL3ST1_ENST00000406361.1_Silent_p.F25F|GAL3ST1_ENST00000406955.1_Silent_p.F25F			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	25					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CCAGCAGCAGGAAACTAGTGA	0.652000													14	141					0	0	1	0	0
CAPN2	824	broad.mit.edu	37	1	223947007	223947007	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:223947007C>T	ENST00000295006.5	+	12	1662	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.N373N	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	451	Domain III.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TCAGCAAAAACTTCTTCCTGA	0.522000													11	88					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48771477	48771477	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:48771477C>G	ENST00000314191.2	-	48	6331	c.6275G>C	c.(6274-6276)tGc>tCc	p.C2092S	PRKDC_ENST00000338368.3_Missense_Mutation_p.C2092S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2093					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGGCGCCATGCACTCATGCCG	0.597000								Non-homologous end-joining					18	191					0	0	1	0	0
ARRDC3	57561	broad.mit.edu	37	5	90669590	90669590	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:90669590C>A	ENST00000265138.3	-	7	1365	c.1099G>T	c.(1099-1101)Gct>Tct	p.A367S		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	367					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TCATCACAAGCACTCACTGGT	0.458000													29	168					2.48696e-23	3.16328e-23	1	1	0
PRB1	5542	broad.mit.edu	37	12	11506201	11506201	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:11506201C>T	ENST00000500254.2	-	4	474	c.437G>A	c.(436-438)gGa>gAa	p.G146E	PRB1_ENST00000546254.1_Missense_Mutation_p.G146E|PRB1_ENST00000545626.1_Missense_Mutation_p.G126E	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	340	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGAGA	0.602000													55	462					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15273312	15273312	+	Silent	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:15273312G>C	ENST00000263388.2	-	32	5952	c.5877C>G	c.(5875-5877)ctC>ctG	p.L1959L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1959					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTCCATTTTTGAGCAGGGCCA	0.572000													3	65					0	0	1	0	0
AP1M2	10053	broad.mit.edu	37	19	10691954	10691954	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:10691954C>G	ENST00000590923.1	-	6	744	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	AP1M2_ENST00000250244.6_Missense_Mutation_p.E221Q			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	221	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CCAGTGAGCTCGAAGAGCACG	0.572000											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	87					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55136510	55136510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:55136510G>T	ENST00000414150.2	+	7	1785	c.1507G>T	c.(1507-1509)Gag>Tag	p.E503*	MROH7_ENST00000409996.1_Nonsense_Mutation_p.E71*|MROH7_ENST00000421030.2_Nonsense_Mutation_p.E503*|MROH7_ENST00000454855.2_Nonsense_Mutation_p.E21*|MROH7_ENST00000395690.2_Nonsense_Mutation_p.E503*|MROH7_ENST00000545244.1_Nonsense_Mutation_p.E71*|MROH7_ENST00000339553.5_Nonsense_Mutation_p.E503*					maestro heat-like repeat family member 7																		GGAGAGGTCGGAGCTGGTGAA	0.622000													5	64					0.217242	0.218345	1	1	0
HTR3E	285242	broad.mit.edu	37	3	183818338	183818338	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:183818338C>T	ENST00000415389.2	+	2	599	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	HTR3E_ENST00000436361.2_Silent_p.L60L|HTR3E_ENST00000440596.2_Silent_p.L60L|HTR3E_ENST00000425359.2_Silent_p.L45L|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000335304.2_Silent_p.L60L	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	45						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TCCCACTGCTCTGAATTCAGT	0.522000													25	508					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100733168	100733168	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:100733168A>T	ENST00000358544.2	+	39	7129	c.7018A>T	c.(7018-7020)Aga>Tga	p.R2340*	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.R2315*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2340					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GATGTTATGGAGATATCCAGA	0.378000													6	118					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67266781	67266781	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:67266781G>C	ENST00000392676.3	-	22	3067	c.3003C>G	c.(3001-3003)atC>atG	p.I1001M	ABCA5_ENST00000392677.2_Missense_Mutation_p.I1002M|ABCA5_ENST00000588877.1_Missense_Mutation_p.I1001M			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1001					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TCCAGATCTGGATGGTTTCAG	0.294000													22	428					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112622517	112622517	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:112622517C>A	ENST00000550722.1	-	61	10210	c.9815G>T	c.(9814-9816)cGc>cTc	p.R3272L	HECTD4_ENST00000377560.5_Missense_Mutation_p.R3246L|HECTD4_ENST00000430131.2_Missense_Mutation_p.R2996L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCAGGCCTTGCGGATGGCGCC	0.662000													26	166					6.53348e-20	8.22221e-20	1	1	0
ZNF334	55713	broad.mit.edu	37	20	45131250	45131250	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr20:45131250C>G	ENST00000457685.2	-	6	1937	c.614G>C	c.(613-615)aGg>aCg	p.R205T	ZNF334_ENST00000593880.1_Missense_Mutation_p.R266T|ZNF334_ENST00000347606.4_Missense_Mutation_p.R243T			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AAAGGTTTTCCTACATTCATT	0.373000													12	127					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128367449	128367449	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:128367449T>A	ENST00000389524.4	+	24	3103	c.3050T>A	c.(3049-3051)aTc>aAc	p.I1017N	MYO7B_ENST00000409816.2_Missense_Mutation_p.I1017N|MYO7B_ENST00000428314.1_Missense_Mutation_p.I1017N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1017	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGGAACGTCATCCTGAGGTTC	0.592000													3	33					0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100210859	100210859	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:100210859A>T	ENST00000393950.2	+	2	530	c.248A>T	c.(247-249)gAg>gTg	p.E83V	MOSPD3_ENST00000223054.4_Missense_Mutation_p.E83V|MOSPD3_ENST00000424091.2_Missense_Mutation_p.E83V|MOSPD3_ENST00000379527.2_Missense_Mutation_p.E83V	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	83	MSP.					integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTTGACGCAGAGGGATATGTG	0.567000													6	405					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:7577114C>A	ENST00000420246.2	-	8	956	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000269305.4_Missense_Mutation_p.C275F|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000455263.2_Missense_Mutation_p.C275F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		AGGACAGGCACAAACACGCAC	0.552000		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)			6	26					8.12818e-05	8.85898e-05	1	1	0
E2F3	1871	broad.mit.edu	37	6	20481576	20481576	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:20481576G>C	ENST00000346618.3	+	3	711	c.645G>C	c.(643-645)aaG>aaC	p.K215N	E2F3_ENST00000535432.1_Missense_Mutation_p.K84N	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	215	Leucine-zipper.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			AAGTGCAAAAGAGAAGGATTT	0.458000													32	386					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52746194	52746194	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:52746194C>G	ENST00000360540.5	-	5	872	c.466G>C	c.(466-468)Gac>Cac	p.D156H	PCMTD1_ENST00000522514.1_Missense_Mutation_p.D156H|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.D80H	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	156						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGATGACTGTCAGAAGCTATC	0.338000													5	173					0	0	1	0	0
UFL1	23376	broad.mit.edu	37	6	96985297	96985297	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:96985297A>G	ENST00000369278.4	+	9	916	c.850A>G	c.(850-852)Ata>Gta	p.I284V		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	284					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										TGTAAGCTACATAAAGAAAAG	0.358000													16	120					0	0	1	0	0
FNDC4	64838	broad.mit.edu	37	2	27715647	27715647	+	Silent	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:27715647C>A	ENST00000264703.3	-	6	946	c.555G>T	c.(553-555)ggG>ggT	p.G185G		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	185						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGCAGAACAGCCCAATTACAG	0.488000													8	169					3.86212e-05	4.26412e-05	1	1	0
MATN2	4147	broad.mit.edu	37	8	99019794	99019794	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:99019794G>T	ENST00000254898.5	+	10	1769	c.1538G>T	c.(1537-1539)gGa>gTa	p.G513V	MATN2_ENST00000521689.1_Missense_Mutation_p.G513V|MATN2_ENST00000520016.1_Missense_Mutation_p.G513V|MATN2_ENST00000524308.1_Missense_Mutation_p.G472V|MATN2_ENST00000522025.2_Missense_Mutation_p.G229V	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	513	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGTCCTGAGGGACACGTGCTC	0.557000													9	170					3.86212e-05	4.26412e-05	1	1	0
NR3C1	2908	broad.mit.edu	37	5	142680274	142680274	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:142680274G>C	ENST00000343796.2	-	5	2516	c.1523C>G	c.(1522-1524)tCa>tGa	p.S508*	NR3C1_ENST00000415690.2_Nonsense_Mutation_p.S508*|NR3C1_ENST00000394466.2_Nonsense_Mutation_p.S509*|NR3C1_ENST00000416954.2_Nonsense_Mutation_p.S111*|NR3C1_ENST00000503201.1_Nonsense_Mutation_p.S508*|NR3C1_ENST00000424646.2_Nonsense_Mutation_p.S482*|NR3C1_ENST00000504572.1_Nonsense_Mutation_p.S509*|NR3C1_ENST00000394464.2_Nonsense_Mutation_p.S508*|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000231509.3_Nonsense_Mutation_p.S509*	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	508	Hinge.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GGTTTCTTGTGAGACTCCTGT	0.398000													12	116					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166897831	166897831	+	Silent	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:166897831G>T	ENST00000423058.2	-	13	2342	c.2325C>A	c.(2323-2325)acC>acA	p.T775T	SCN1A_ENST00000303395.4_Silent_p.T775T|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.T747T|SCN1A_ENST00000375405.3_Silent_p.T764T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	775						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CAATACAGATGGTGATGGCCA	0.398000													6	139					8.12818e-05	8.85898e-05	1	1	0
PCDHB8	56128	broad.mit.edu	37	5	140559009	140559009	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:140559009A>G	ENST00000239444.2	+	1	1639	c.1394A>G	c.(1393-1395)aAc>aGc	p.N465S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		465	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCGAGAACAACAGCCCCGCC	0.627000													30	868					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61528308	61528308	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr20:61528308G>A	ENST00000266070.4	-	7	1954	c.1629C>T	c.(1627-1629)gcC>gcT	p.A543A	DIDO1_ENST00000395340.1_Silent_p.A543A|DIDO1_ENST00000395343.1_Silent_p.A543A|DIDO1_ENST00000395335.2_Silent_p.A543A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	543					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGCTGCCATGGCTGCCGCTT	0.567000													3	40					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139569037	139569037	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:139569037A>G	ENST00000358430.3	-	8	1319	c.1087T>C	c.(1087-1089)Tac>Cac	p.Y363H		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	363						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTTCCTGAGTAGAGAGTGAGC	0.368000													3	152					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109694075	109694075	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:109694075C>T	ENST00000465301.2	+	3	476	c.230C>T	c.(229-231)cCt>cTt	p.P77L	RGAG1_ENST00000540313.1_Missense_Mutation_p.P77L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	77										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATGTCTGCACCTCTAATGGGA	0.517000											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	503					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44903130	44903130	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:44903130T>A	ENST00000261866.7	-	18	3215	c.3199A>T	c.(3199-3201)Acc>Tcc	p.T1067S	SPG11_ENST00000558319.1_Missense_Mutation_p.T1067S|SPG11_ENST00000535302.2_Missense_Mutation_p.T1067S|SPG11_ENST00000427534.2_Missense_Mutation_p.T1067S	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1067					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCCTGATTGGTGGGAATCAAA	0.443000													11	162					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154751611	154751611	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:154751611C>T	ENST00000404141.1	-	13	2621	c.2467G>A	c.(2467-2469)Gag>Aag	p.E823K	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.E823K			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	823	Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ATCAACAACTCTGCAGACACT	0.284000													6	133					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95609375	95609375	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr9:95609375G>C	ENST00000395505.2	-	3	1678	c.1586C>G	c.(1585-1587)tCa>tGa	p.S529*	ZNF484_ENST00000332591.6_Nonsense_Mutation_p.S529*|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Nonsense_Mutation_p.S565*|ZNF484_ENST00000395506.3_Nonsense_Mutation_p.S567*	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						ACTTAATGTTGACTTCTGAAT	0.403000													7	189					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59157819	59157819	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr18:59157819G>C	ENST00000262717.4	+	2	431	c.33G>C	c.(31-33)aaG>aaC	p.K11N	CDH20_ENST00000538374.1_Missense_Mutation_p.K11N|CDH20_ENST00000536675.2_Missense_Mutation_p.K11N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	11					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GCAATGCAAAGAACTGGCTTG	0.458000													4	197					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141756709	141756709	+	Silent	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:141756709G>C	ENST00000475668.2	+	30	3714	c.3660G>C	c.(3658-3660)ccG>ccC	p.P1220P	MGAM_ENST00000549489.2_Silent_p.P1220P			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1220	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTTGGGGCCGACTCCAGAGC	0.498000													4	85					0	0	1	0	0
IL15	3600	broad.mit.edu	37	4	142653990	142653990	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr4:142653990A>G	ENST00000477265.1	+	7	5405	c.397A>G	c.(397-399)Aac>Gac	p.N133D	IL15_ENST00000529613.1_Missense_Mutation_p.N160D|IL15_ENST00000514653.1_Missense_Mutation_p.N133D|IL15_ENST00000296545.7_Missense_Mutation_p.N160D|IL15_ENST00000320650.4_Missense_Mutation_p.N160D|IL15_ENST00000394159.1_Missense_Mutation_p.N133D			P40933	IL15_HUMAN	interleukin 15	160					cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					AATGTTCATCAACACTTCTTG	0.318000													9	153					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47989810	47989810	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr20:47989810C>G	ENST00000371741.4	-	2	2453	c.2287G>C	c.(2287-2289)Gag>Cag	p.E763Q		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	763					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCTGTCCCTCATCATCTGTG	0.557000													18	497					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113697914	113697914	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:113697914G>C	ENST00000297405.5	-	15	2447	c.2203C>G	c.(2203-2205)Cct>Gct	p.P735A	CSMD3_ENST00000343508.3_Missense_Mutation_p.P695A|CSMD3_ENST00000455883.2_Missense_Mutation_p.P631A|CSMD3_ENST00000352409.3_Missense_Mutation_p.P735A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	735	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGTAATCAGGAGAAAGAACT	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	197					0	0	1	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75373785	75373785	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr14:75373785C>G	ENST00000555647.1	-	12	1869	c.1582G>C	c.(1582-1584)Ggt>Cgt	p.G528R	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G528R|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G497R|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G528R			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	528	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CTGACACCACCTTCTCCCATG	0.617000													116	342					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10775564	10775564	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:10775564C>T	ENST00000313243.2	-	12	1976	c.1594G>A	c.(1594-1596)Gca>Aca	p.A532T	SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_3'UTR|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.A532T|MAK_ENST00000354489.2_Missense_Mutation_p.A532T			P20794	MAK_HUMAN	male germ cell-associated kinase	532					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GCGTTACCTGCATTGCTCCTT	0.438000													36	457					0	0	1	0	0
HSD17B12	51144	broad.mit.edu	37	11	43876322	43876322	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:43876322G>A	ENST00000278353.4	+	10	861	c.742G>A	c.(742-744)Gat>Aat	p.D248N	RP11-613D13.5_ENST00000530450.1_RNA	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	248					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						GCCAACTTTGGATAAGCCCTC	0.473000													5	163					0	0	1	0	0
MXRA7	439921	broad.mit.edu	37	17	74681173	74681173	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:74681173C>G	ENST00000355797.3	-	3	489	c.481G>C	c.(481-483)Gag>Cag	p.E161Q	MXRA7_ENST00000585519.1_Missense_Mutation_p.E6Q|MXRA7_ENST00000449428.2_Missense_Mutation_p.E161Q|MXRA7_ENST00000588114.1_Missense_Mutation_p.E6Q|MXRA7_ENST00000589082.1_Missense_Mutation_p.E6Q|MXRA7_ENST00000375036.2_Missense_Mutation_p.E161Q|MXRA7_ENST00000592148.1_Missense_Mutation_p.E204Q	NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	161						integral to membrane				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TCCTCCAGCTCCTCTTTGGTC	0.622000													14	405					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996387	140996387	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:140996387G>T	ENST00000285879.4	+	4	3483	c.3197G>T	c.(3196-3198)cGt>cTt	p.R1066L	MAGEC1_ENST00000406005.2_Missense_Mutation_p.R133L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1066	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCTCCTCGTTACGAATTC	0.488000										HNSCC(15;0.026)			22	287					1.66031e-10	2.00451e-10	1	1	0
SLC7A13	157724	broad.mit.edu	37	8	87241846	87241846	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:87241846C>A	ENST00000297524.3	-	1	764	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W	SLC7A13_ENST00000419776.2_Intron|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	221						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AAGCATGCCCCGCCTGAATAT	0.353000													19	235					1.64293e-13	2.00803e-13	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61528310	61528310	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr20:61528310C>A	ENST00000266070.4	-	7	1952	c.1627G>T	c.(1627-1629)Gcc>Tcc	p.A543S	DIDO1_ENST00000395340.1_Missense_Mutation_p.A543S|DIDO1_ENST00000395343.1_Missense_Mutation_p.A543S|DIDO1_ENST00000395335.2_Missense_Mutation_p.A543S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	543					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTGCCATGGCTGCCGCTTTC	0.562000													3	41					0.00909568	0.00936366	1	1	0
PCLO	27445	broad.mit.edu	37	7	82544970	82544970	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:82544970T>A	ENST00000423517.2	-	7	12669	c.12332A>T	c.(12331-12333)gAg>gTg	p.E4111V	PCLO_ENST00000333891.8_Missense_Mutation_p.E4111V|PCLO_ENST00000437081.1_Missense_Mutation_p.E831V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4042					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGGTCTTCCTCCGCCTTCAC	0.463000													4	43					0	0	1	0	0
RAB4B-EGLN2	100529264	broad.mit.edu	37	19	41285995	41285995	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:41285995G>A	ENST00000594136.1	+	2	193	c.88G>A	c.(88-90)Gag>Aag	p.E30K	RAB4B_ENST00000602069.1_3'UTR|MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B_ENST00000357052.2_Missense_Mutation_p.E30K|RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000594800.1_Missense_Mutation_p.E30K																							TCAGTTCATTGAGAATAAGTG	0.537000													17	97					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69143832	69143832	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:69143832G>A	ENST00000306560.1	+	2	690	c.534G>A	c.(532-534)gtG>gtA	p.V178V	HAS3_ENST00000569188.1_Silent_p.V178V|HAS3_ENST00000219322.3_Silent_p.V178V	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	178					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGGATGTGGTGCGGGCCAGCA	0.637000													4	40					0	0	1	0	0
ZNF571	51276	broad.mit.edu	37	19	38055907	38055907	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:38055907C>G	ENST00000328550.2	-	4	1522	c.1423G>C	c.(1423-1425)Gaa>Caa	p.E475Q	ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.E475Q|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.E475Q|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.E475Q|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCTTACATTCATAATGTTTC	0.368000													17	107					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76757063	76757063	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr18:76757063A>G	ENST00000536229.3	+	3	3738	c.3029A>G	c.(3028-3030)tAt>tGt	p.Y1010C	SALL3_ENST00000575389.2_Missense_Mutation_p.Y1143C|SALL3_ENST00000537592.2_Missense_Mutation_p.Y1215C			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGGAACCAGTATGCTGCAGCC	0.577000													16	211					0	0	1	0	0
OCEL1	79629	broad.mit.edu	37	19	17337954	17337954	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:17337954G>C	ENST00000215061.4	+	3	442	c.398G>C	c.(397-399)gGa>gCa	p.G133A	OCEL1_ENST00000601529.1_Missense_Mutation_p.G133A|OCEL1_ENST00000597836.1_Missense_Mutation_p.G77A|OCEL1_ENST00000601576.1_3'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	133										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						AAGCCTATTGGAGCCATCCCT	0.592000													13	148					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123517902	123517902	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:123517902G>C	ENST00000422452.2	-	30	6942	c.6879C>G	c.(6877-6879)caC>caG	p.H2293Q	TENM1_ENST00000371130.3_Missense_Mutation_p.H2286Q|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CCGAGCTTGTGTGGTTGTACA	0.443000													19	319					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41219655	41219655	+	Missense_Mutation	SNP	C	C	T	rs80356958		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:41219655C>T	ENST00000309486.4	-	15	5183	c.4156G>A	c.(4156-4158)Gaa>Aaa	p.E1386K	BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.E540K|BRCA1_ENST00000357654.3_Missense_Mutation_p.E1682K|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E1635K|BRCA1_ENST00000471181.2_Missense_Mutation_p.E1703K|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.E578K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Missense_Mutation_p.E173K|BRCA1_ENST00000351666.3_Missense_Mutation_p.E499K|BRCA1_ENST00000491747.2_Missense_Mutation_p.E578K	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1682					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTAGTCTCTTCAGTAATTAGA	0.383000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			7	110					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949394	56949394	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:56949394C>G	ENST00000497933.1	+	1	174	c.27C>G	c.(25-27)gaC>gaG	p.D9E		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCTTCACAGACGCTGGCCCCA	0.592000													4	81					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160027277	160027277	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:160027277A>G	ENST00000263635.6	+	10	1549	c.1312A>G	c.(1312-1314)Agg>Ggg	p.R438G	TANC1_ENST00000454300.1_Missense_Mutation_p.R332G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	438						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAGCCGCATGAGGCAGATTGC	0.483000													14	176					0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112088544	112088544	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:112088544G>A	ENST00000357685.5	+	12	1822	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	BCO2_ENST00000438022.1_Missense_Mutation_p.E529K|BCO2_ENST00000526088.1_Missense_Mutation_p.E523K|BCO2_ENST00000361053.4_Missense_Mutation_p.E490K|BCO2_ENST00000532593.1_Missense_Mutation_p.E458K|BCO2_ENST00000393032.2_Missense_Mutation_p.E529K|BCO2_ENST00000531169.1_Missense_Mutation_p.E529K			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	563					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GGGCCGAGCAGAGGTACCTGT	0.398000													9	84					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133667450	133667450	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:133667450G>A	ENST00000310926.4	-	8	1308	c.1035C>T	c.(1033-1035)ctC>ctT	p.L345L	SLCO2A1_ENST00000493729.1_Silent_p.L269L	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	345					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GGAAGGTGGAGAGGCCAGCAA	0.562000													15	270					0	0	1	0	0
HCCS	3052	broad.mit.edu	37	X	11139773	11139773	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:11139773G>A	ENST00000321143.4	+	7	852	c.650G>A	c.(649-651)cGt>cAt	p.R217H	HCCS_ENST00000380763.3_Missense_Mutation_p.R217H|HCCS_ENST00000380762.4_Missense_Mutation_p.R217H|ARHGAP6_ENST00000534860.1_Intron	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	217			R -> C (in MCOPS7).		organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	p.R217H(1)		kidney(1)|large_intestine(3)|lung(3)	7						ATCATAAACCGTTGCGGGACA	0.428000													9	204					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825823	4825823	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:4825823T>C	ENST00000380382.1	-	1	24	c.25A>G	c.(25-27)Ata>Gta	p.I9V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCGTACTTATGTCATTCAAA	0.313000													8	37					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204761	9204761	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:9204761G>A	ENST00000429566.3	+	1	907	c.841G>A	c.(841-843)Gtc>Atc	p.V281I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V281F(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GTACACAGCAGTCACCCCCAT	0.527000													33	121					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96947610	96947610	+	Missense_Mutation	SNP	C	C	A	rs142585893		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:96947610C>A	ENST00000323853.5	-	35	5043	c.4966G>T	c.(4966-4968)Gtg>Ttg	p.V1656L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1656	Helicase C-terminal 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TGGGCAGCCACGTTCATGCCC	0.577000													11	176					0.000978159	0.0010357	1	1	0
TLN2	83660	broad.mit.edu	37	15	63102159	63102159	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:63102159G>A	ENST00000561311.1	+	51	6929	c.6699G>A	c.(6697-6699)gtG>gtA	p.V2233V	TLN2_ENST00000306829.6_Silent_p.V2233V			Q9Y4G6	TLN2_HUMAN	talin 2	2233					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GTGACGAGGTGAGAACCAGAG	0.552000													7	100					0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63083557	63083557	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:63083557G>A	ENST00000228705.6	-	8	1467	c.1167C>T	c.(1165-1167)acC>acT	p.T389T	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	389	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CAAGTCCCCTGGTCACTCCAA	0.502000													5	55					0	0	1	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74376142	74376142	+	RNA	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:74376142C>A	ENST00000429810.2	-	0	1289																											ACCATCCATTCGGCAAGGTAC	0.463000													3	67					1	1	1	1	0
DMD	1756	broad.mit.edu	37	X	32235119	32235119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:32235119G>A	ENST00000357033.4	-	44	6558	c.6352C>T	c.(6352-6354)Cag>Tag	p.Q2118*	DMD_ENST00000378677.2_Nonsense_Mutation_p.Q2114*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2118					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTAGCCACTGATTAAATATC	0.353000													4	66					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	1005298	1005298	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:1005298C>G	ENST00000537687.1	+	24	7068	c.6425C>G	c.(6424-6426)tCt>tGt	p.S2142C	WNK1_ENST00000530271.2_Missense_Mutation_p.S2380C|WNK1_ENST00000340908.4_Missense_Mutation_p.S1475C|WNK1_ENST00000315939.6_Missense_Mutation_p.S1882C|WNK1_ENST00000535572.1_Missense_Mutation_p.S1634C	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1882					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GATGCAAAGTCTGTTCATTTT	0.423000													4	102					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153539220	153539220	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:153539220G>T	ENST00000369915.3	+	4	573	c.384G>T	c.(382-384)gaG>gaT	p.E128D	TKTL1_ENST00000369912.2_Missense_Mutation_p.E72D|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	128					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGATGGCGAGTCCTCAGAAG	0.527000													16	167					4.35082e-09	5.16877e-09	1	1	0
TNKS	8658	broad.mit.edu	37	8	9609212	9609212	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:9609212C>G	ENST00000310430.6	+	19	2952	c.2926C>G	c.(2926-2928)Ctg>Gtg	p.L976V	TNKS_ENST00000518281.1_Missense_Mutation_p.L739V	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	976					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GAGTGCCTCTCTGATCTCACC	0.542000													24	328					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134997425	134997425	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:134997425G>C	ENST00000304613.3	+	5	578	c.557G>C	c.(556-558)cGc>cCc	p.R186P	KNDC1_ENST00000368571.2_Missense_Mutation_p.R121P|KNDC1_ENST00000368572.2_Missense_Mutation_p.R186P			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	186	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCCTCCTGTCGCGTGTGCCGG	0.622000													6	197					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28493950	28493950	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:28493950G>T	ENST00000569430.1	-	12	1653	c.834C>A	c.(832-834)ttC>ttA	p.F278L	CLN3_ENST00000354630.5_Missense_Mutation_p.F278L|CLN3_ENST00000333496.9_Missense_Mutation_p.F254L|CLN3_ENST00000395653.4_Missense_Mutation_p.F178L|CLN3_ENST00000359984.7_Missense_Mutation_p.F278L|CLN3_ENST00000360019.2_Missense_Mutation_p.F278L|CLN3_ENST00000357806.7_Missense_Mutation_p.F179L|CLN3_ENST00000357857.9_Missense_Mutation_p.F224L|CLN3_ENST00000568224.1_Missense_Mutation_p.F200L|CLN3_ENST00000355477.5_Missense_Mutation_p.F230L|CLN3_ENST00000567963.1_Missense_Mutation_p.F278L|CLN3_ENST00000535392.1_Missense_Mutation_p.F200L|CLN3_ENST00000357076.5_Missense_Mutation_p.F168L|CLN3_ENST00000565316.1_Missense_Mutation_p.F278L			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	278					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCCGAACCTTGAACACTGTCC	0.562000													5	144					0.00116845	0.00122842	1	1	0
SLITRK4	139065	broad.mit.edu	37	X	142718131	142718131	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:142718131C>A	ENST00000381779.4	-	2	1019	c.794G>T	c.(793-795)gGc>gTc	p.G265V	SLITRK4_ENST00000338017.4_Missense_Mutation_p.G265V|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G265V	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	265						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCCGGTGCCCATGGGACA	0.448000													18	94					2.94398e-08	3.46282e-08	1	1	0
FAM214A	56204	broad.mit.edu	37	15	52901540	52901540	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:52901540G>A	ENST00000261844.7	-	6	1723	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L	FAM214A_ENST00000546305.2_Missense_Mutation_p.S531L	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	524																	GTCTTCATATGAACTCCTAAA	0.403000													12	179					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120673850	120673850	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:120673850T>G	ENST00000273666.6	+	3	524	c.253T>G	c.(253-255)Ttg>Gtg	p.L85V	STXBP5L_ENST00000492541.1_Missense_Mutation_p.L85V|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L85V|STXBP5L_ENST00000497029.1_Missense_Mutation_p.L85V|STXBP5L_ENST00000472879.1_Missense_Mutation_p.L85V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	85					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.L85V(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCAGAAAATCTTGGCTATTGG	0.393000													22	86					0	0	1	0	0
NFKBID	84807	broad.mit.edu	37	19	36380881	36380881	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:36380881G>A	ENST00000396901.1	-	11	1372	c.799C>T	c.(799-801)Ctg>Ttg	p.L267L	NFKBID_ENST00000352614.2_Silent_p.L419L|NFKBID_ENST00000340950.2_Silent_p.L104L|NFKBID_ENST00000606253.1_Silent_p.L267L	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	267					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						GCTGCCAACAGGTGCCGCACG	0.697000													5	63					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156618411	156618411	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:156618411G>A	ENST00000329117.4	+	6	1157	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R274Q	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	274	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGGAAGCACGGGCGTACTGC	0.612000													29	213					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													3	96					0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84872231	84872231	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:84872231C>T	ENST00000262424.5	+	2	354	c.130C>T	c.(130-132)Cac>Tac	p.H44Y	CRISPLD2_ENST00000569090.1_Missense_Mutation_p.H44Y|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.H44Y|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.H44Y	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	44						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CAACGAGTCTCACTCCCGGGT	0.602000													22	172					0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6750592	6750592	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:6750592G>A	ENST00000600428.1	+	13	1759	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E	TRIP10_ENST00000313285.8_Silent_p.E479E|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Silent_p.E479E|TRIP10_ENST00000313244.9_Silent_p.E535E			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	535	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AGGATTTCGAGGAGGAACCCA	0.542000													16	97					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69964132	69964132	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:69964132G>T	ENST00000299293.2	+	7	598	c.88G>T	c.(88-90)Ggg>Tgg	p.G30W	FRS2_ENST00000550389.1_Missense_Mutation_p.G30W|FRS2_ENST00000549921.1_Missense_Mutation_p.G30W|FRS2_ENST00000397997.2_Missense_Mutation_p.G30W	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	30	IRS-type PTB.				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGATGATGATGGGAATGAGTT	0.393000													19	167					3.08376e-08	3.62007e-08	1	1	0
KIAA1522	57648	broad.mit.edu	37	1	33234321	33234321	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:33234321G>A	ENST00000401073.2	+	4	601	c.531G>A	c.(529-531)gaG>gaA	p.E177E	KIAA1522_ENST00000373480.1_Silent_p.E118E|KIAA1522_ENST00000373481.3_Silent_p.E129E|KIAA1522_ENST00000294521.3_Silent_p.E118E	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	118										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACGTGGCTGAGAGCTCCACAG	0.602000													11	54					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53855452	53855452	+	Silent	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:53855452A>G	ENST00000458035.1	+	4	1641	c.1524A>G	c.(1522-1524)tcA>tcG	p.S508S	ZNF845_ENST00000595091.1_Silent_p.S508S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCAAACCTTGAAA	0.388000													3	74					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133329865	133329865	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:133329865C>T	ENST00000260810.5	-	25	4287	c.4156G>A	c.(4156-4158)Gaa>Aaa	p.E1386K		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1386					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ATGCCAGATTCTTGTCTTTGC	0.333000								Other conserved DNA damage response genes					7	363					0	0	1	0	0
C17orf78	284099	broad.mit.edu	37	17	35734843	35734843	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:35734843G>C	ENST00000300618.4	+	2	135	c.85G>C	c.(85-87)Gaa>Caa	p.E29Q	C17orf78_ENST00000586700.1_Missense_Mutation_p.E29Q|ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	29						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				TTGCCGACTGGAACAGCTGCC	0.498000													6	205					0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130952701	130952701	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:130952701G>T	ENST00000312988.7	-	3	426	c.326C>A	c.(325-327)aCc>aAc	p.T109N		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	109					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CTTGCCGATGGTGTAATGGCC	0.542000													19	254					2.4624e-09	2.93708e-09	1	1	0
RGAG1	57529	broad.mit.edu	37	X	109697114	109697114	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:109697114G>A	ENST00000465301.2	+	3	3515	c.3269G>A	c.(3268-3270)gGa>gAa	p.G1090E	RGAG1_ENST00000540313.1_Missense_Mutation_p.G1090E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1090										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ACAGCCTTTGGAGTGATGTCC	0.527000													12	122					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191521	152191521	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:152191521C>G	ENST00000368801.2	-	3	2659	c.2584G>C	c.(2584-2586)Ggt>Cgt	p.G862R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	862					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGATTGACCTGAGCTAGAG	0.587000													7	176					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6086677	6086677	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr4:6086677C>T	ENST00000409021.3	-	5	1299	c.850G>A	c.(850-852)Gag>Aag	p.E284K	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E119K|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E284K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E119K|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E284K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	284	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACATCTCGCTCGTCCATATGT	0.358000													8	199					0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1905435	1905435	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr20:1905435C>T	ENST00000358771.4	+	5	1265	c.1113C>T	c.(1111-1113)aaC>aaT	p.N371N	SIRPA_ENST00000356025.3_Silent_p.N371N|SIRPA_ENST00000400068.3_Silent_p.N371N	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	371					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ATGAACGGAACATCTATATTG	0.493000													5	108					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356874	37356874	+	Silent	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr20:37356874G>T	ENST00000217420.1	+	2	1433	c.1170G>T	c.(1168-1170)gcG>gcT	p.A390A		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	390					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGGCCAAGGCGCTGTTGTCCT	0.617000													11	78					6.94344e-10	8.33213e-10	1	1	0
CDH17	1015	broad.mit.edu	37	8	95183103	95183103	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:95183103C>G	ENST00000027335.3	-	8	1018	c.894G>C	c.(892-894)ttG>ttC	p.L298F	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.L298F	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	298	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTCTCGGTCCAAGGGCTGAG	0.428000													5	161					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17668513	17668513	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:17668513G>A	ENST00000375448.4	+	7	754	c.728G>A	c.(727-729)gGa>gAa	p.G243E	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	243					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GTCCCCGGTGGAAAGCACAAC	0.602000													10	86					0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117741	46117741	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr21:46117741G>A	ENST00000400365.3	+	1	655	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	209	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						CGCCCGCCGCGTGCCCGTCCC	0.716000													6	275					0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5264821	5264821	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:5264821C>T	ENST00000262477.6	+	9	1638	c.1414C>T	c.(1414-1416)Cag>Tag	p.Q472*	NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000546142.2_Nonsense_Mutation_p.Q472*|RABEP1_ENST00000341923.6_Nonsense_Mutation_p.Q472*|RABEP1_ENST00000408982.2_Nonsense_Mutation_p.Q472*|RABEP1_ENST00000537505.1_Nonsense_Mutation_p.Q429*	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	472					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AACCAAAGATCAGGAAAGAGC	0.502000													4	69					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186051996	186051996	+	Splice_Site	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:186051996G>C	ENST00000271588.4	+	57	9016		c.e57-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						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						TTTTCCCTTAGATTCTGAATA	0.279000													5	33					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85486726	85486726	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:85486726C>T	ENST00000394573.1	+	16	1834	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F	SLC28A1_ENST00000537624.1_Silent_p.F544F|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000286749.3_Silent_p.F544F|SLC28A1_ENST00000538177.1_Silent_p.F378F	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	544					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTGCCAATTTCAGCTCCATTG	0.537000													5	92					0	0	1	0	0
CCDC120	90060	broad.mit.edu	37	X	48919856	48919856	+	Splice_Site	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:48919856G>A	ENST00000376396.3	+	3	268	c.49_splice	c.e3+1	p.A17_splice	CCDC120_ENST00000422185.2_Splice_Site_p.A17_splice|CCDC120_ENST00000496529.2_Splice_Site_p.A17_splice|CCDC120_ENST00000536628.2_Intron|CCDC120_ENST00000603986.1_Splice_Site_p.A52_splice|CCDC120_ENST00000597275.1_Splice_Site_p.A17_splice	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	17							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CAATGCCCCAGGTCGGTGGCT	0.592000													8	69					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6012658	6012658	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr9:6012658T>G	ENST00000259569.5	-	1	2960	c.2950A>C	c.(2950-2952)Ata>Cta	p.I984L		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	984					protein transport	cytoplasm|nucleus	binding	p.I984L(4)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTTCCCTATTGCTGAGATA	0.363000													3	109					0	0	1	0	0
GJC2	57165	broad.mit.edu	37	1	228346302	228346302	+	Silent	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:228346302C>G	ENST00000366714.2	+	2	1018	c.843C>G	c.(841-843)ctC>ctG	p.L281L		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	281					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				GCCTGCTGCTCAACCTCTGTG	0.721000													6	85					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582710	55582710	+	Silent	SNP	T	T	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:55582710T>A	ENST00000361849.3	-	34	5176	c.4782A>T	c.(4780-4782)ccA>ccT	p.P1594P	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Silent_p.P1589P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Silent_p.P1552P|PCDH15_ENST00000437009.1_Silent_p.P1523P|PCDH15_ENST00000320301.6_Silent_p.P1592P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395433.1_Silent_p.P1569P	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1592					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTATGATCTCTGGTCTATTTG	0.473000										HNSCC(58;0.16)			11	139					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26359044	26359044	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:26359044C>G	ENST00000265944.5	+	13	1341	c.1175C>G	c.(1174-1176)tCc>tGc	p.S392C	MYO3A_ENST00000543632.1_Missense_Mutation_p.S392C	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	392	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTTTAGCATTCCAAACTATAT	0.299000													9	92					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91875058	91875058	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr14:91875058T>A	ENST00000389857.6	-	3	301	c.215A>T	c.(214-216)aAc>aTc	p.N72I	CCDC88C_ENST00000553403.1_Missense_Mutation_p.N72I|CCDC88C_ENST00000389856.5_Missense_Mutation_p.N64I|CCDC88C_ENST00000554165.1_5'UTR	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	72					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AATGCGAAGGTTCACATCATT	0.468000													5	81					0	0	1	0	0
NAA30	122830	broad.mit.edu	37	14	57858384	57858384	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr14:57858384G>C	ENST00000556492.1	+	2	863	c.709G>C	c.(709-711)Gaa>Caa	p.E237Q	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	237	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						AGATCTGTCCGAACCCTACTC	0.458000													21	523					0	0	1	0	0
KRBOX4	55634	broad.mit.edu	37	X	46322197	46322197	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:46322197C>G	ENST00000344302.4	+	4	661	c.30C>G	c.(28-30)ttC>ttG	p.F10L	KRBOX4_ENST00000360017.5_Missense_Mutation_p.F10L|KRBOX4_ENST00000487081.1_Missense_Mutation_p.F10L|KRBOX4_ENST00000377919.2_Missense_Mutation_p.F10L|KRBOX4_ENST00000298190.6_Missense_Mutation_p.F10L|KRBOX4_ENST00000478600.1_Missense_Mutation_p.F10L	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2			KRAB box domain containing 4																		CATTGACCTTCAAGGACGTGT	0.547000													7	117					0	0	1	0	0
PHYHIPL	84457	broad.mit.edu	37	10	60936716	60936716	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:60936716G>T	ENST00000373880.4	+	1	367	c.103G>T	c.(103-105)Gac>Tac	p.D35Y	PHYHIPL_ENST00000433653.1_Missense_Mutation_p.D35Y	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	35										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						GTGCGACCGGGACGGTAAGAG	0.701000													4	40					5.9392e-07	6.79747e-07	1	1	0
C9	735	broad.mit.edu	37	5	39341331	39341331	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:39341331C>T	ENST00000263408.4	-	4	488	c.393G>A	c.(391-393)gaG>gaA	p.E131E	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	131	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CACAATCATCCTCATCTGAAA	0.473000													31	194					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004468	187004468	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr4:187004468C>A	ENST00000296795.2	+	4	1732	c.1628C>A	c.(1627-1629)gCa>gAa	p.A543E	TLR3_ENST00000504367.1_Missense_Mutation_p.A266E	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	543					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AACAACTTAGCACGGCTCTGG	0.443000													4	130					0.00909568	0.00936366	1	1	0
MIR1324	100302212	broad.mit.edu	37	3	75679971	75679971	+	RNA	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:75679971G>T	ENST00000408868.1	+	0	58					NR_031714.1																						TTCCCTCTGGGTACCAGACAG	0.507000													4	128					1.024e-07	1.18568e-07	1	1	0
SBNO1	55206	broad.mit.edu	37	12	123782571	123782571	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:123782571C>G	ENST00000420886.2	-	30	3992	c.3993G>C	c.(3991-3993)aaG>aaC	p.K1331N	SBNO1_ENST00000267176.4_Missense_Mutation_p.K1330N|SBNO1_ENST00000602398.1_Missense_Mutation_p.K1331N|SBNO1_ENST00000602750.1_Missense_Mutation_p.K1330N	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1331							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CGATCTGCATCTTCACGTTTG	0.443000													12	265					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60183717	60183717	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:60183717C>A	ENST00000300187.6	+	5	1553	c.1276C>A	c.(1276-1278)Cag>Aag	p.Q426K	MS4A14_ENST00000531787.1_Missense_Mutation_p.Q314K|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.Q459K|MS4A14_ENST00000395005.2_Missense_Mutation_p.Q409K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	426	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCATATTGTGCAGTTCCCTGA	0.448000													12	114					1.99824e-07	2.30476e-07	1	1	0
APBB1IP	54518	broad.mit.edu	37	10	26851280	26851280	+	Silent	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:26851280C>A	ENST00000376236.4	+	14	1850	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P	APBB1IP_ENST00000493857.1_3'UTR	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	465					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CCACCCAGCCCAATGGACAGA	0.468000													39	718					3.94638e-17	4.90407e-17	1	1	0
TRADD	8717	broad.mit.edu	37	16	67188570	67188570	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:67188570G>A	ENST00000345057.4	-	5	1389	c.921C>T	c.(919-921)ccC>ccT	p.P307P	TRADD_ENST00000486556.1_Silent_p.P247P	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	307					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGCCGCCATTGGGATCGGTCA	0.652000													6	40					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134278066	134278066	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:134278066G>T	ENST00000337090.3	+	14	1921	c.1748G>T	c.(1747-1749)gGa>gTa	p.G583V	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.G583V|CEP63_ENST00000513612.2_Missense_Mutation_p.G583V|CEP63_ENST00000383229.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	583					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCTCCAAGAGGACAAGCGTCG	0.478000													30	365					5.60225e-13	6.83313e-13	1	1	0
STK36	27148	broad.mit.edu	37	2	219549951	219549951	+	Splice_Site	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:219549951G>C	ENST00000295709.3	+	11	1659	c.1380_splice	c.e11+1	p.Q460_splice	STK36_ENST00000440309.1_Splice_Site_p.Q460_splice|STK36_ENST00000392106.2_Splice_Site_p.Q460_splice|STK36_ENST00000392105.3_Splice_Site_p.Q460_splice	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	460					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTGGAGGGCAGGTAATGGGGA	0.483000													6	129					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26359085	26359085	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:26359085C>T	ENST00000265944.5	+	13	1382	c.1216C>T	c.(1216-1218)Cac>Tac	p.H406Y	MYO3A_ENST00000543632.1_Missense_Mutation_p.H406Y	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	406	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAGTCCTCCTCACATTTTTGC	0.328000													11	141					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180308037	180308037	+	Silent	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:180308037C>G	ENST00000410066.1	-	10	1959	c.1356G>C	c.(1354-1356)ctG>ctC	p.L452L	ZNF385B_ENST00000409343.1_Silent_p.L376L|ZNF385B_ENST00000336917.5_Silent_p.L350L|ZNF385B_ENST00000409692.1_Silent_p.L350L|ZNF385B_ENST00000466398.1_5'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	452						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCCCAGGCCTCAGAAGAGCTG	0.637000													7	69					0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46211690	46211690	+	Splice_Site	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:46211690G>T	ENST00000306156.3	+	6	1021	c.693_splice	c.e6-1	p.V232_splice		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	232					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			ATCCCTGCAGGTGGGCTCCCA	0.547000													37	254					9.8876e-21	1.25229e-20	1	1	0
RGL2	5863	broad.mit.edu	37	6	33263949	33263949	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:33263949G>A	ENST00000497454.1	-	6	1119	c.624C>T	c.(622-624)atC>atT	p.I208I	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Silent_p.I126I	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	208	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGAGATTGCGGATGAGGTCAG	0.662000													31	317					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031418	32031418	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:32031418G>A	ENST00000360311.4	+	2	1396	c.847G>A	c.(847-849)Gag>Aag	p.E283K		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TCACACTGGTGAGAAACCTTA	0.368000													8	155					0	0	1	0	0
SRSF12	135295	broad.mit.edu	37	6	89808333	89808333	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:89808333G>A	ENST00000452027.2	-	5	943	c.750C>T	c.(748-750)tcC>tcT	p.S250S		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	250	Arg/Ser-rich (RS domain).				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						TTCGAGATCTGGAATGTGACC	0.373000													12	128					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086359	100086359	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:100086359G>T	ENST00000423930.1	+	4	1174	c.1015G>T	c.(1015-1017)Gcc>Tcc	p.A339S	NYAP1_ENST00000300179.2_Missense_Mutation_p.A339S|NYAP1_ENST00000454988.1_Missense_Mutation_p.A282S			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	339	Pro-rich.																TCCACTCCTGGCCTTCCCCCA	0.672000													27	154					8.69298e-16	1.07576e-15	1	1	0
IGHD	3495	broad.mit.edu	37	14	106307354	106307354	+	RNA	SNP	T	T	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr14:106307354T>A	ENST00000390556.2	-	0	683																											CTGTGCTGGCTCTGGGAGCCG	0.662000													3	8					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23845921	23845921	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:23845921G>C	ENST00000359788.4	-	2	211	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	ZNF675_ENST00000596211.1_Missense_Mutation_p.L15V|ZNF675_ENST00000600313.1_Missense_Mutation_p.L15V|ZNF675_ENST00000599168.1_Missense_Mutation_p.L15V|ZNF675_ENST00000601935.1_Missense_Mutation_p.L15V|ZNF675_ENST00000601010.1_Missense_Mutation_p.L15V	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	15	KRAB.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTCTTCCAGAGAGAATTCT	0.393000													26	263					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155747500	155747500	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:155747500C>G	ENST00000437809.1	-	15	2126	c.2004G>C	c.(2002-2004)gaG>gaC	p.E668D	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Missense_Mutation_p.E668D|GON4L_ENST00000361040.5_Missense_Mutation_p.E668D|GON4L_ENST00000271883.5_Missense_Mutation_p.E668D			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	668					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTTTAACCTTCTCTACTTCCT	0.468000													22	143					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24905377	24905377	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr14:24905377C>T	ENST00000251343.5	+	6	1816	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	KHNYN_ENST00000554268.1_Silent_p.I4I|KHNYN_ENST00000556842.1_Silent_p.I559I|KHNYN_ENST00000553935.1_Silent_p.I559I			O15037	KHNYN_HUMAN	KH and NYN domain containing	559										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TGGCAATCATCAGAGAACGGT	0.537000											OREG0022628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	112					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42853694	42853694	+	Missense_Mutation	SNP	G	G	A	rs146355445		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:42853694G>A	ENST00000334370.4	+	13	2776	c.2141G>A	c.(2140-2142)cGg>cAg	p.R714Q	MEGF8_ENST00000251268.6_Missense_Mutation_p.R781Q	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	781						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AAGGAGACGCGGCGGCTGCAG	0.647000													3	39					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55294937	55294937	+	Splice_Site	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:55294937G>C	ENST00000336077.6	+	7	857		c.e7-1		KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Splice_Site|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Splice_Site|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1						immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		ATCTTCTACAGATGCTGCGGT	0.517000													9	98					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169915	57169915	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:57169915G>T	ENST00000371244.4	+	7	1126	c.1060G>T	c.(1060-1062)Gat>Tat	p.D354Y		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	354					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TTTTATGGATGATAGTGCCAT	0.468000													18	108					1.22574e-08	1.45038e-08	1	1	0
LTBP1	4052	broad.mit.edu	37	2	33468818	33468818	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:33468818T>C	ENST00000404816.2	+	10	2319	c.1966T>C	c.(1966-1968)Ttt>Ctt	p.F656L	LTBP1_ENST00000404525.1_Missense_Mutation_p.F330L|LTBP1_ENST00000402934.1_Missense_Mutation_p.F330L|LTBP1_ENST00000390003.4_Missense_Mutation_p.F330L|LTBP1_ENST00000407925.1_Missense_Mutation_p.F330L|LTBP1_ENST00000354476.3_Missense_Mutation_p.F656L|LTBP1_ENST00000418533.2_Missense_Mutation_p.F330L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	656	EGF-like 3; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAAAATAGGATTTGGGCCGGA	0.388000													29	192					0	0	1	0	0
GPR160	26996	broad.mit.edu	37	3	169802440	169802440	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:169802440C>T	ENST00000355897.5	+	4	1288	c.680C>T	c.(679-681)tCa>tTa	p.S227L		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	227						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTTCCTTTTTCATCCCACTCC	0.343000													13	93					0	0	1	0	0
C1orf189	388701	broad.mit.edu	37	1	154173060	154173060	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:154173060G>A	ENST00000368525.3	-	3	104	c.79C>T	c.(79-81)Cga>Tga	p.R27*		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	27										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TGTGAATTTCGCCACCTGCTC	0.483000													12	450					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099959	168099959	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:168099959G>T	ENST00000409195.1	+	9	2146	c.2057G>T	c.(2056-2058)gGg>gTg	p.G686V	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G686V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G464V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	511					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GACATAACTGGGGGGGATGTC	0.418000													13	172					3.27435e-08	3.81366e-08	1	1	0
NLRP14	338323	broad.mit.edu	37	11	7081285	7081285	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:7081285C>G	ENST00000299481.4	+	9	3140	c.2794C>G	c.(2794-2796)Cag>Gag	p.Q932E		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	932					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTGTAATCTTCAGGACTTGGA	0.443000													8	313					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128466269	128466269	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:128466269C>T	ENST00000322313.4	-	21	3921	c.3763G>A	c.(3763-3765)Gaa>Aaa	p.E1255K		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1255					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCTCGGTCTTCAGAAGGGCCT	0.607000													9	219					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111635	55111635	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:55111635C>A	ENST00000314721.2	+	1	1009	c.959C>A	c.(958-960)cCt>cAt	p.P320H		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATATTTATTCCTAGTTCTAAG	0.348000													7	49					1.58986e-06	1.8057e-06	1	1	0
MEI1	150365	broad.mit.edu	37	22	42150015	42150015	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr22:42150015C>T	ENST00000401548.3	+	17	1956	c.1916C>T	c.(1915-1917)tCa>tTa	p.S639L	MEI1_ENST00000400107.1_Missense_Mutation_p.S7L|MEI1_ENST00000540833.1_Missense_Mutation_p.S379L|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Intron	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	639							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AACCTTCTCTCAGCTCCAGAG	0.463000													10	132					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207452097	207452097	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:207452097C>T	ENST00000264377.3	+	19	2114	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	ADAM23_ENST00000374416.1_Nonsense_Mutation_p.Q596*|ADAM23_ENST00000374415.3_Nonsense_Mutation_p.Q596*	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	596	Cys-rich.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CAATCAAAATCAGGTATGCTG	0.299000													5	147					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2473294	2473294	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:2473294G>A	ENST00000258711.6	+	2	1155	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	340					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		ACTTCGTGGGGAAGCTGGAGA	0.672000													5	80					0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46211689	46211689	+	Splice_Site	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:46211689G>T	ENST00000306156.3	+	6	1020		c.e6-1			NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon						activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CATCCCTGCAGGTGGGCTCCC	0.542000													37	251					9.8876e-21	1.25229e-20	1	1	0
CADPS2	93664	broad.mit.edu	37	7	122261580	122261580	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:122261580C>T	ENST00000334010.7	-	5	1480	c.1059G>A	c.(1057-1059)gaG>gaA	p.E353E	CADPS2_ENST00000412584.2_Silent_p.E353E|CADPS2_ENST00000313070.7_Silent_p.E353E|CADPS2_ENST00000449022.2_Silent_p.E353E	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	353					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ACAGCTGAATCTCATTCTCAT	0.393000													25	193					0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179499559	179499559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:179499559G>T	ENST00000263966.3	+	20	2917	c.2446G>T	c.(2446-2448)Gga>Tga	p.G816*	USP13_ENST00000496897.1_Nonsense_Mutation_p.G751*	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	816					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CAGTCACATGGGAACATCCAC	0.383000													5	151					0.014758	0.0150882	1	1	0
BTD	686	broad.mit.edu	37	3	15686875	15686875	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:15686875G>C	ENST00000383778.4	+	4	1810	c.1452G>C	c.(1450-1452)atG>atC	p.M484I	BTD_ENST00000449107.1_Missense_Mutation_p.M506I|BTD_ENST00000303498.5_Missense_Mutation_p.M504I|BTD_ENST00000437172.1_Missense_Mutation_p.M506I			P43251	BTD_HUMAN	biotinidase	504					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CCTCAGGGATGACCCTAGAAG	0.522000													4	138					0	0	1	0	0
VSIG4	11326	broad.mit.edu	37	X	65242164	65242164	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:65242164G>T	ENST00000374737.4	-	8	1249	c.1141C>A	c.(1141-1143)Ctg>Atg	p.L381M	VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_Missense_Mutation_p.L287M	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	381					complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTGTGTCCAGCAGGCGGGCG	0.507000													10	70					9.70103e-10	1.16178e-09	1	1	0
RC3H1	149041	broad.mit.edu	37	1	173930920	173930920	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:173930920G>A	ENST00000367696.2	-	12	2496	c.2145C>T	c.(2143-2145)atC>atT	p.I715I	RC3H1_ENST00000258349.4_Silent_p.I715I|RC3H1_ENST00000367694.2_Silent_p.I715I			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	715	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGTAACTCTCGATCTGTTGGT	0.413000													15	281					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412365	51412365	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:51412365C>A	ENST00000319760.6	-	1	83	c.31G>T	c.(31-33)Gtc>Ttc	p.V11F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CCCAGGAGGACAAATTCTGTA	0.418000													9	63					0.010729	0.011007	1	1	0
SMC5	23137	broad.mit.edu	37	9	72933456	72933456	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr9:72933456G>A	ENST00000361138.5	+	14	1891	c.1833G>A	c.(1831-1833)caG>caA	p.Q611Q		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	611	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GATTAAAACAGATTTATACAG	0.279000													9	124					0	0	1	0	0
PPM1F	9647	broad.mit.edu	37	22	22277491	22277491	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr22:22277491C>G	ENST00000407142.1	-	6	1895	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	PPM1F_ENST00000263212.5_Missense_Mutation_p.E447Q|PPM1F_ENST00000538191.1_Missense_Mutation_p.E343Q			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	447					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)		GCCTGGGTCTCAGGTTCTGGA	0.642000													25	125					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185191114	185191114	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:185191114A>G	ENST00000367500.4	+	15	2420	c.2255A>G	c.(2254-2256)cAt>cGt	p.H752R	SWT1_ENST00000367501.3_Missense_Mutation_p.H752R	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	752										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CCCAGCAGGCATCAAGAAATC	0.348000													14	420					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651181	84651181	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:84651181G>A	ENST00000286744.5	+	21	3025	c.2801G>A	c.(2800-2802)tGc>tAc	p.C934Y	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.C934Y	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	934	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATTATTAAGTGCCCCGTGCGA	0.507000													7	197					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18028879	18028879	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr22:18028879A>C	ENST00000262608.8	+	16	3839	c.3839A>C	c.(3838-3840)aAc>aCc	p.N1280T	CECR2_ENST00000400573.4_Missense_Mutation_p.N1279T|CECR2_ENST00000400585.2_Missense_Mutation_p.N1137T	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1321					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GACCTGGACAACCATAACGCA	0.502000													5	164					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3511960	3511960	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:3511960G>A	ENST00000356575.4	-	3	544	c.318C>T	c.(316-318)acC>acT	p.T106T		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	106	EMI.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ACCTGAGCACGGTCCGGGCCT	0.647000													15	102					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295985	20295985	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr14:20295985C>G	ENST00000315947.1	+	1	378	c.378C>G	c.(376-378)atC>atG	p.I126M	OR4N2_ENST00000568211.1_Missense_Mutation_p.I126M	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I126M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACATCGCCATCTGCCGGCCTC	0.522000													39	405					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42378510	42378510	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:42378510G>C	ENST00000290472.3	-	4	382	c.288C>G	c.(286-288)gaC>gaG	p.D96E		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	96	C2.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCGTGACTGAGTCCTCATCAT	0.502000													4	123					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279530	114279530	+	Silent	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr4:114279530A>G	ENST00000357077.4	+	38	9809	c.9756A>G	c.(9754-9756)gtA>gtG	p.V3252V	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.V3219V|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3219					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AACCAGCTGTACAAGTCCAGT	0.488000													19	185					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19746325	19746325	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:19746325G>C	ENST00000203556.4	-	15	1596	c.1459C>G	c.(1459-1461)Ctg>Gtg	p.L487V	GMIP_ENST00000445806.2_Missense_Mutation_p.L458V|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_Missense_Mutation_p.L461V	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	487					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCGCTGGACAGTGTCCACTTC	0.682000													14	77					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70342952	70342952	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:70342952C>G	ENST00000333646.6	+	11	1692	c.1493C>G	c.(1492-1494)tCa>tGa	p.S498*	MED12_ENST00000374080.3_Nonsense_Mutation_p.S498*|MED12_ENST00000374102.1_Nonsense_Mutation_p.S498*	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	498					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGATCTCCTCAGATGATGAT	0.488000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						26	276					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61232714	61232714	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr18:61232714G>A	ENST00000382768.1	+	6	742	c.742G>A	c.(742-744)Ggc>Agc	p.G248S	SERPINB12_ENST00000269491.1_Missense_Mutation_p.G228S			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	228					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GACGCAAAAAGGCCTCTACAG	0.488000													8	146					0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108474670	108474670	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:108474670G>T	ENST00000295755.6	-	3	489	c.291C>A	c.(289-291)tgC>tgA	p.C97*	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	97					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CCACCACACTGCACTGGCAGT	0.567000													8	200					5.18039e-06	5.8501e-06	1	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332442	22332442	+	RNA	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:22332442C>T	ENST00000558896.1	+	0	249																											CGTGACAGAACTTGTTCTTCT	0.353000													5	159					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109771173	109771173	+	Splice_Site	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:109771173C>G	ENST00000368952.4	-	9	1654	c.1364_splice	c.e9+1	p.R455_splice	MICAL1_ENST00000358577.3_Splice_Site_p.R350_splice|MICAL1_ENST00000358807.3_Splice_Site_p.R436_splice			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	436					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CAGGTCTTACCGCTCAGCCAA	0.607000													26	634					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287423	16287423	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr22:16287423C>A	ENST00000343518.6	-	1	514	c.463G>T	c.(463-465)Ggc>Tgc	p.G155C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	155										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCCCAAGGGCCCACTTTGTTC	0.592000													40	412					6.1207e-33	7.85247e-33	1	1	0
OR51D1	390038	broad.mit.edu	37	11	4661079	4661079	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:4661079A>G	ENST00000357605.2	+	1	135	c.59A>G	c.(58-60)cAc>cGc	p.H20R		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATCTGGTCCACGCAGCATAC	0.493000													9	175					0	0	1	0	0
ECHDC1	55862	broad.mit.edu	37	6	127611066	127611066	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:127611066C>T	ENST00000531967.1	-	6	1375	c.872G>A	c.(871-873)gGt>gAt	p.G291D	ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000474289.2_Missense_Mutation_p.G285D|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000309620.9_Missense_Mutation_p.G268D|ECHDC1_ENST00000454859.3_Missense_Mutation_p.G285D|ECHDC1_ENST00000454591.2_Missense_Mutation_p.G210D|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000430841.2_Missense_Mutation_p.G285D	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	291							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TGCAGGCCCACCCCAAACTGT	0.363000													25	173					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40030416	40030416	+	Silent	SNP	A	A	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:40030416A>T	ENST00000372857.3	-	9	2067	c.1275T>A	c.(1273-1275)ccT>ccA	p.P425P	PABPC4_ENST00000372856.3_Silent_p.P425P|PABPC4_ENST00000372858.3_Silent_p.P425P|PABPC4_ENST00000372862.3_Silent_p.P425P	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	425					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTAACTGGTTAGGTGTATAAT	0.493000													25	132					0	0	1	0	0
FGL1	2267	broad.mit.edu	37	8	17731978	17731978	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:17731978G>C	ENST00000398056.2	-	6	1112	c.297C>G	c.(295-297)atC>atG	p.I99M	FGL1_ENST00000381840.2_Missense_Mutation_p.I99M|FGL1_ENST00000381841.2_Missense_Mutation_p.I99M|FGL1_ENST00000398054.1_Missense_Mutation_p.I99M|FGL1_ENST00000522444.1_Missense_Mutation_p.I99M|FGL1_ENST00000427924.1_Missense_Mutation_p.I99M|FGL1_ENST00000518650.1_Missense_Mutation_p.I99M			Q08830	FGL1_HUMAN	fibrinogen-like 1	99	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		GGAGAGGTTTGATTTTGTAAA	0.373000													9	224					0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38397580	38397580	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:38397580C>G	ENST00000373023.2	-	7	630	c.537G>C	c.(535-537)agG>agC	p.R179S	INPP5B_ENST00000373021.1_Missense_Mutation_p.R179S|INPP5B_ENST00000373026.1_Missense_Mutation_p.R179S|INPP5B_ENST00000373024.3_Intron	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	179					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGGACGGATACCTGCCTCCGC	0.637000													17	226					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744136	140744136	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:140744136G>A	ENST00000518069.1	+	1	239	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACCCGCGAAGCGGCAGC	0.602000													7	156					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24738823	24738823	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:24738823G>T	ENST00000545231.1	-	12	1971	c.821C>A	c.(820-822)cCc>cAc	p.P274H	DFNA5_ENST00000342947.3_Missense_Mutation_p.P438H|DFNA5_ENST00000409775.3_Missense_Mutation_p.P438H|DFNA5_ENST00000419307.1_Missense_Mutation_p.P274H|DFNA5_ENST00000409970.1_Missense_Mutation_p.P274H			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	438					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						ATCTTTCAGGGGAGTCAAGGT	0.418000													7	79					0.000673444	0.000716892	1	1	0
BRPF3	27154	broad.mit.edu	37	6	36182135	36182135	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:36182135G>A	ENST00000357641.6	+	8	3214	c.2961G>A	c.(2959-2961)gaG>gaA	p.E987E	BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Silent_p.E987E|BRPF3_ENST00000543502.1_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	987					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCGAAGGGGAGAGGTCCCCCC	0.597000													6	80					0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081701	53081701	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:53081701G>A	ENST00000305901.5	-	1	508	c.381C>T	c.(379-381)caC>caT	p.H127H	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	127	Poly-His.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		gatggtggtggtggtgatggt	0.657000													4	34					0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93242723	93242723	+	Splice_Site	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:93242723G>C	ENST00000446394.1	+	8	811		c.e8-1		HECTD2_ENST00000298068.5_Splice_Site|HECTD2_ENST00000536715.1_Splice_Site			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATCTTTTTCAGAATCCTCAGT	0.333000													3	56					0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30085957	30085957	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:30085957G>A	ENST00000449726.1	+	3	639	c.289G>A	c.(289-291)Gac>Aac	p.D97N	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.D97N|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.D97N|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.D97N|PLEKHA8_ENST00000483799.1_3'UTR	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	97					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TTGCCTGACTGACAGTAGGAC	0.507000													6	80					0	0	1	0	0
ARHGDIA	396	broad.mit.edu	37	17	79827274	79827274	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:79827274C>T	ENST00000269321.7	-	4	418	c.283G>A	c.(283-285)Gag>Aag	p.E95K	ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000541078.2_Missense_Mutation_p.E95K|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.E95K|ARHGDIA_ENST00000580685.1_Missense_Mutation_p.E95K|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.E95K	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	95					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TTGAAGCTCTCCAGGTCGCCT	0.622000													7	244					0	0	1	0	0
KCNMB4	27345	broad.mit.edu	37	12	70824293	70824293	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:70824293C>G	ENST00000258111.4	+	3	952	c.493C>G	c.(493-495)Cat>Gat	p.H165D		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	165					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCATCGCACTCATGATGAGAT	0.488000													10	336					0	0	1	0	0
NANP	140838	broad.mit.edu	37	20	25596908	25596908	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr20:25596908C>G	ENST00000304788.3	-	2	626	c.400G>C	c.(400-402)Gac>Cac	p.D134H		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	134					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						GTCTGTCTGTCCCCATTCGTT	0.483000													7	117					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566232	136566232	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:136566232C>T	ENST00000264162.2	-	8	3695	c.3685G>A	c.(3685-3687)Gac>Aac	p.D1229N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1229	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATCTCCTGGTCGTCTTCGTAG	0.592000													9	172					0	0	1	0	0
NFKBIE	4794	broad.mit.edu	37	6	44226978	44226978	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:44226978T>G	ENST00000275015.5	-	6	1480	c.1481A>C	c.(1480-1482)aAa>aCa	p.K494T		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	494					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGCAGCAGTTTCCCTGAGAT	0.547000													20	308					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122750938	122750938	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:122750938G>A	ENST00000267199.4	-	1	130	c.18C>T	c.(16-18)tcC>tcT	p.S6S	RP11-512M8.5_ENST00000535844.1_Silent_p.S6S|VPS33A_ENST00000451053.2_Silent_p.S6S	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	6					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CTCGGCCGTAGGACAGATGAG	0.662000													3	98					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89577183	89577183	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr4:89577183G>T	ENST00000402738.1	+	9	1305	c.1066G>T	c.(1066-1068)Gct>Tct	p.A356S	HERC3_ENST00000264345.3_Missense_Mutation_p.A356S|HERC3_ENST00000407637.1_Missense_Mutation_p.A356S	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	356					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTCAGCCCGAGCTGGTAAGAA	0.418000													9	55					4.68919e-08	5.45084e-08	1	1	0
REG1P	5969	broad.mit.edu	37	2	79364399	79364399	+	RNA	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:79364399G>A	ENST00000444841.1	-	0	235																											GTAGCAGTGGGAGCCTTAGGC	0.547000													3	51					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25542705	25542705	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:25542705G>A	ENST00000330688.4	+	3	760	c.339G>A	c.(337-339)atG>atA	p.M113I	RARB_ENST00000404969.1_Missense_Mutation_p.M120I|RARB_ENST00000437042.2_Start_Codon_SNP_p.M1I|RARB_ENST00000458646.1_Start_Codon_SNP_p.M1I|RARB_ENST00000462272.1_3'UTR	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	120					embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAAGAATATGATTTACACTT	0.393000													4	133					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79743983	79743983	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:79743983C>T	ENST00000372371.3	-	25	3453	c.3316G>A	c.(3316-3318)Gag>Aag	p.E1106K		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1106					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGGGTTTTCTCAATTCTCCCT	0.433000													6	103					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226070	23226070	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:23226070C>A	ENST00000300061.2	+	12	1674	c.1531C>A	c.(1531-1533)Ctg>Atg	p.L511M		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	511					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CTACAAAGACCTGAACCAGAG	0.498000													3	83					0.115264	0.117238	1	1	0
BRPF3	27154	broad.mit.edu	37	6	36182121	36182121	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:36182121G>A	ENST00000357641.6	+	8	3200	c.2947G>A	c.(2947-2949)Gag>Aag	p.E983K	BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.E983K|BRPF3_ENST00000543502.1_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	983					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GAGCTGTAGTGAGAGCGAAGG	0.602000													6	89					0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43226681	43226681	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:43226681G>A	ENST00000332499.2	+	1	1998	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	42					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGGGTGCCCGAGGAGGACAG	0.642000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	92					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64981947	64981947	+	Silent	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:64981947G>T	ENST00000268603.4	-	13	2565	c.1950C>A	c.(1948-1950)gtC>gtA	p.V650V	CDH11_ENST00000566827.1_Silent_p.V524V|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	650					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTTCCTCAAAGACAATGAGTG	0.423000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			4	99					0.150653	0.151932	1	1	0
C8orf33	65265	broad.mit.edu	37	8	146279402	146279402	+	Splice_Site	SNP	A	A	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:146279402A>T	ENST00000331434.6	+	5	664		c.e5-1			NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33											endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		TCTCCCCGACAGCTGCTTATT	0.463000													22	409					0	0	1	0	0
ZNF787	126208	broad.mit.edu	37	19	56600279	56600279	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:56600279G>A	ENST00000270459.3	-	3	380	c.262C>T	c.(262-264)Cac>Tac	p.H88Y		NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN	zinc finger protein 787	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		TCGCCGGTGTGCGTGCGCTGG	0.716000													9	28					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130502579	130502579	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr9:130502579T>A	ENST00000314830.8	-	10	2271	c.2158A>T	c.(2158-2160)Aag>Tag	p.K720*	SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.K652*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.K562*|SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.K366*|SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.K560*|SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.K563*	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	720	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGAGCTTCTTCTCGTACAGG	0.577000													10	85					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158449978	158449978	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:158449978A>G	ENST00000368152.1	+	1	311	c.311A>G	c.(310-312)aAt>aGt	p.N104S	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ATGCTCATCAATCTACTTTCT	0.443000													26	453					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113304897	113304897	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:113304897G>T	ENST00000297405.5	-	55	8901	c.8657C>A	c.(8656-8658)aCa>aAa	p.T2886K	CSMD3_ENST00000343508.3_Missense_Mutation_p.T2846K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2717K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T2816K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2886	Sushi 19.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTTCCACTTGTTCTTCCATA	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	161					0.00116845	0.00122842	1	1	0
GRIN2D	2906	broad.mit.edu	37	19	48922951	48922951	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:48922951C>G	ENST00000263269.3	+	9	2059	c.1971C>G	c.(1969-1971)atC>atG	p.I657M		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	657						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CCAGCAAAATCATGGTGCTGG	0.567000													36	288					0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109292526	109292526	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:109292526A>G	ENST00000228476.3	+	9	971	c.767A>G	c.(766-768)cAc>cGc	p.H256R	DAO_ENST00000551281.1_Missense_Mutation_p.H190R	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	256					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						ATCCAGGACCACAACACCATT	0.507000													14	65					0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12820863	12820863	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:12820863G>A	ENST00000288048.5	+	4	780	c.564G>A	c.(562-564)ctG>ctA	p.L188L	C1orf158_ENST00000376210.3_Silent_p.L150L	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	188										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		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;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCCATCGCCTGCATCCTTTCC	0.582000													29	102					0	0	1	0	0
PRR23C	389152	broad.mit.edu	37	3	138762829	138762829	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:138762829G>A	ENST00000413199.1	-	1	905	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Missense_Mutation_p.R212C	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	212	Pro-rich.									breast(2)|lung(7)|skin(2)	11						AAGATGGGGCGTGGAGAGCGT	0.647000													3	51					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28305263	28305263	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr21:28305263G>T	ENST00000284987.5	-	5	1911	c.1790C>A	c.(1789-1791)cCt>cAt	p.P597H	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	597	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCTGGGAGCAGGGTTATTACA	0.577000													6	66					0.00116845	0.00122842	1	1	0
NLGN2	57555	broad.mit.edu	37	17	7318386	7318386	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:7318386G>A	ENST00000302926.2	+	5	1029	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	NLGN2_ENST00000575301.1_Missense_Mutation_p.R319Q	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	319					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GGCTGTGACCGAGAGGACAGC	0.662000													6	117					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72222801	72222801	+	Silent	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr4:72222801C>G	ENST00000340595.3	+	3	691	c.495C>G	c.(493-495)ctC>ctG	p.L165L	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Silent_p.L209L|SLC4A4_ENST00000264485.5_Silent_p.L209L|SLC4A4_ENST00000512686.1_Silent_p.L165L|SLC4A4_ENST00000351898.6_Silent_p.L209L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	209						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ATACTTTGCTCCGGAAGCACC	0.443000													5	169					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89620293	89620293	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:89620293C>T	ENST00000268704.2	+	15	2043	c.2028C>T	c.(2026-2028)ttC>ttT	p.F676F		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	676					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CCATCTCCTTCCCTGAGGCGC	0.657000													14	135					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139733012	139733012	+	Silent	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:139733012T>C	ENST00000303045.6	-	27	2771	c.2325A>G	c.(2323-2325)gaA>gaG	p.E775E	COL22A1_ENST00000435777.1_Silent_p.E775E|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	775	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCAGACCATCTTCCCCTCTTT	0.478000										HNSCC(7;0.00092)			32	377					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64800140	64800140	+	Silent	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:64800140A>G	ENST00000413366.3	+	17	2030	c.2004A>G	c.(2002-2004)ttA>ttG	p.L668L		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	668	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ACCCCATCTTACAGAGTGCAG	0.498000													20	151					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	32875249	32875249	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:32875249G>T	ENST00000317907.4	+	5	820	c.589G>T	c.(589-591)Gag>Tag	p.E197*		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	197							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GCATTTGCTTGAGGAACGCTC	0.383000													27	284					4.44401e-20	5.60455e-20	1	1	0
RUNDC1	146923	broad.mit.edu	37	17	41141482	41141482	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:41141482G>T	ENST00000361677.1	+	3	794	c.782G>T	c.(781-783)cGa>cTa	p.R261L		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	261										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		AACCCAGCCCGAGTCAAAGAA	0.483000													13	120					8.60227e-14	1.05573e-13	1	1	0
LGMN	5641	broad.mit.edu	37	14	93182534	93182534	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr14:93182534C>T	ENST00000393218.2	-	6	688	c.351G>A	c.(349-351)ttG>ttA	p.L117L	LGMN_ENST00000334869.4_Silent_p.L117L|LGMN_ENST00000557434.1_Silent_p.L117L|LGMN_ENST00000555699.1_Silent_p.L117L	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	117					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CATCGCCTCTCAACACAGCAA	0.493000													12	244					0	0	1	0	0
MRPS22	56945	broad.mit.edu	37	3	139069846	139069846	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:139069846G>A	ENST00000495075.1	+	7	1108	c.676G>A	c.(676-678)Gat>Aat	p.D226N	MRPS22_ENST00000465056.1_Missense_Mutation_p.D225N|MRPS22_ENST00000478464.1_Missense_Mutation_p.D185N|MRPS22_ENST00000310776.4_Missense_Mutation_p.D226N			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	226						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						CAGGCATGTTGATGTCCTCAA	0.418000													13	208					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230723591	230723591	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:230723591G>A	ENST00000283943.5	-	3	976	c.798C>T	c.(796-798)ttC>ttT	p.F266F	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Silent_p.F308F|TRIP12_ENST00000543084.1_Silent_p.F308F|TRIP12_ENST00000409677.1_Silent_p.F308F	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	266					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTTTAGGGCTGAAACGAGCAG	0.468000													10	97					0	0	1	0	0
GNB4	59345	broad.mit.edu	37	3	179131212	179131212	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:179131212G>A	ENST00000232564.3	-	8	973	c.687C>T	c.(685-687)atC>atT	p.I229I	GNB4_ENST00000468623.1_Silent_p.I229I|GNB4_ENST00000465153.1_5'UTR	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	229					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			TGACAGCATTGATATCTGAGA	0.368000													5	147					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78318930	78318930	+	Silent	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:78318930A>G	ENST00000582970.1	+	29	6938	c.6795A>G	c.(6793-6795)ccA>ccG	p.P2265P	RNF213_ENST00000508628.2_Silent_p.P2314P|RNF213_ENST00000336301.6_Silent_p.P338P	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTGCCACACCATCACTCCACA	0.527000													9	164					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101252649	101252649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:101252649G>T	ENST00000388798.2	+	18	2490	c.2299G>T	c.(2299-2301)Gag>Tag	p.E767*	SPAG1_ENST00000251809.3_Nonsense_Mutation_p.E767*	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	767					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AGGCAAGGAGGAGCCTGGAAG	0.483000													10	164					2.61681e-11	3.17222e-11	1	1	0
LHX8	431707	broad.mit.edu	37	1	75622664	75622664	+	Silent	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:75622664C>A	ENST00000294638.5	+	9	1561	c.897C>A	c.(895-897)ccC>ccA	p.P299P	LHX8_ENST00000356261.3_Silent_p.P289P	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	299						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAGTCCCACCCTCCAGGCTGT	0.502000													20	246					5.35047e-06	6.0307e-06	1	1	0
TEK	7010	broad.mit.edu	37	9	27202996	27202996	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr9:27202996G>A	ENST00000380036.4	+	13	2530	c.2088G>A	c.(2086-2088)caG>caA	p.Q696Q	TEK_ENST00000519097.1_Silent_p.Q549Q|TEK_ENST00000406359.4_Silent_p.Q653Q	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	696	Fibronectin type-III 3.				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)		CCATCACTCAGTATCAGCTCA	0.438000													8	117					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29911911	29911911	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:29911911C>A	ENST00000396634.1	+	6	973	c.632C>A	c.(631-633)aCa>aAa	p.T211K	HLA-A_ENST00000376809.5_Missense_Mutation_p.T211K|HLA-A_ENST00000376806.5_Missense_Mutation_p.T211K|HLA-A_ENST00000376802.2_Missense_Mutation_p.T211K			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	211	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCCCCCAAGACACATATGACC	0.572000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			7	469					1.12685e-05	1.25818e-05	1	1	0
FNIP1	96459	broad.mit.edu	37	5	131042117	131042117	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:131042117C>A	ENST00000307968.7	-	8	816	c.817G>T	c.(817-819)Gta>Tta	p.V273L	FNIP1_ENST00000511848.1_Missense_Mutation_p.V301L|FNIP1_ENST00000510461.1_Missense_Mutation_p.V301L|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.V256L	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CTAGGAAATACCCCATTTTCC	0.423000													16	133					7.07596e-05	7.75483e-05	1	1	0
KIAA0895	23366	broad.mit.edu	37	7	36423524	36423524	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:36423524G>C	ENST00000297063.6	-	2	172	c.122C>G	c.(121-123)cCa>cGa	p.P41R		NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	41	Arg-rich.									breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATTAGGTCTTGGCCTTTTCTC	0.294000													4	69					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41219652	41219652	+	Nonsense_Mutation	SNP	C	C	A	rs80356879		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:41219652C>A	ENST00000309486.4	-	15	5186	c.4159G>T	c.(4159-4161)Gag>Tag	p.E1387*	BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000352993.3_Nonsense_Mutation_p.E541*|BRCA1_ENST00000357654.3_Nonsense_Mutation_p.E1683*|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.E1636*|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.E1704*|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Nonsense_Mutation_p.E579*|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Nonsense_Mutation_p.E174*|BRCA1_ENST00000351666.3_Nonsense_Mutation_p.E500*|BRCA1_ENST00000491747.2_Nonsense_Mutation_p.E579*	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1683					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGAGTAGTCTCTTCAGTAATT	0.388000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			7	106					0.010729	0.011007	1	1	0
OXGR1	27199	broad.mit.edu	37	13	97639789	97639789	+	Silent	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr13:97639789C>A	ENST00000298440.1	-	4	468	c.225G>T	c.(223-225)ctG>ctT	p.L75L	OXGR1_ENST00000543457.1_Silent_p.L75L	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	75						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			CTGTGCAGGCCAGGTTCAGCA	0.448000													3	58					1	1	1	1	0
MBD1	4152	broad.mit.edu	37	18	47796068	47796068	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr18:47796068G>C	ENST00000587605.1	-	14	1803	c.1586C>G	c.(1585-1587)tCt>tGt	p.S529C	MBD1_ENST00000585672.1_Intron|MBD1_ENST00000436910.1_3'UTR|MBD1_ENST00000382948.5_Intron|MBD1_ENST00000591416.1_3'UTR|MBD1_ENST00000353909.3_3'UTR|MBD1_ENST00000349085.2_3'UTR|MBD1_ENST00000339998.6_3'UTR|MBD1_ENST00000269468.5_3'UTR|MBD1_ENST00000590208.1_Silent_p.L633L|MBD1_ENST00000269471.5_Silent_p.L564L|MBD1_ENST00000347968.3_3'UTR|MBD1_ENST00000588937.1_Silent_p.L564L	NM_001204143.1	NP_001191072.1	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	0	TRD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						gaggtggtgagagactgacat	0.547000													3	18					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48514581	48514581	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr4:48514581G>A	ENST00000358350.4	-	57	8666	c.8062C>T	c.(8062-8064)Cgc>Tgc	p.R2688C	FRYL_ENST00000507873.2_Missense_Mutation_p.R84C|FRYL_ENST00000264319.7_Missense_Mutation_p.R84C|FRYL_ENST00000537810.1_Missense_Mutation_p.R2688C|FRYL_ENST00000503238.1_Missense_Mutation_p.R2688C	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2688					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACGTGGCAGCGCCAGGCTTCC	0.517000													9	76					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687275	27687275	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:27687275A>G	ENST00000438700.3	-	4	2369	c.2252T>C	c.(2251-2253)aTt>aCt	p.I751T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	751					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TGTTGTCTGAATGAAGCCCCG	0.318000													6	54					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231367814	231367814	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:231367814G>C	ENST00000264052.5	+	20	2109	c.1754G>C	c.(1753-1755)aGa>aCa	p.R585T	SP100_ENST00000340126.4_Missense_Mutation_p.R585T|SP100_ENST00000409112.1_Missense_Mutation_p.R585T	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	585					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTGAAAAGAAGAAGAAAAAGA	0.279000													8	105					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56205400	56205400	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr18:56205400G>A	ENST00000361673.3	-	5	2232	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	673							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGGCTCTGAGAAAGCTGGCA	0.458000													9	95					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122760370	122760370	+	Splice_Site	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:122760370A>G	ENST00000245838.8	-	24	2931		c.e24+1		THOC2_ENST00000355725.4_Splice_Site|THOC2_ENST00000491737.1_Splice_Site	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2						intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCAACAACTTACTTGCTAAAA	0.338000													10	167					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167315	140167315	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:140167315G>A	ENST00000504120.2	+	1	1440	c.1440G>A	c.(1438-1440)cgG>cgA	p.R480R	PCDHA1_ENST00000378133.3_Silent_p.R480R|PCDHA1_ENST00000394633.3_Silent_p.R480R	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCTGCGCGGGACGCGGACG	0.647000													22	141					0	0	1	0	0
TBKBP1	9755	broad.mit.edu	37	17	45777036	45777036	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:45777036C>A	ENST00000361722.3	+	6	1694	c.845C>A	c.(844-846)gCg>gAg	p.A282E		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	282					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						CGAGACATGGCGTGGGTGAAA	0.577000											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	353					0.000151284	0.000164584	1	1	0
KCNA6	3742	broad.mit.edu	37	12	4919286	4919286	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:4919286G>C	ENST00000433855.1	+	1	945	c.79G>C	c.(79-81)Gac>Cac	p.D27H	KCNA6_ENST00000280684.3_Missense_Mutation_p.D27H	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	27						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGATGCGGGAGACTTCCCGGA	0.677000										HNSCC(72;0.22)			14	119					0	0	1	0	0
OR5K2	402135	broad.mit.edu	37	3	98216889	98216889	+	Missense_Mutation	SNP	G	G	A	rs116512183	by1000genomes	TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:98216889G>A	ENST00000427338.1	+	1	442	c.365G>A	c.(364-366)cGc>cAc	p.R122H	CLDND1_ENST00000502288.1_3'UTR	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCCTATGACCGCTATGTGGCC	0.473000													16	115					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15290741	15290741	+	Silent	SNP	C	C	T	rs112230097	byFrequency	TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:15290741C>T	ENST00000378116.4	-	5	657	c.651G>A	c.(649-651)ccG>ccA	p.P217P		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	217						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCACCAGCACCGGCGTTCCAT	0.582000													8	162					0	0	1	0	0
AKIRIN2	55122	broad.mit.edu	37	6	88385643	88385643	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:88385643T>C	ENST00000257787.5	-	4	1060	c.536A>G	c.(535-537)tAt>tGt	p.Y179C		NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	179					innate immune response|transcription, DNA-dependent	transcriptional repressor complex				large_intestine(4)	4						AAACGCATCATATTGTTCTAT	0.308000													5	87					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50471817	50471817	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:50471817G>C	ENST00000228468.4	+	5	1129	c.744G>C	c.(742-744)caG>caC	p.Q248H	ASIC1_ENST00000552438.1_Missense_Mutation_p.Q282H|ASIC1_ENST00000447966.2_Missense_Mutation_p.Q248H	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	248					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TCAAAGTGCAGATCCATAGTC	0.597000													10	283					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38690880	38690880	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:38690880G>C	ENST00000449981.2	+	2	404	c.295G>C	c.(295-297)Gaa>Caa	p.E99Q						dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGTGATTTCGGAAGTGCTGTC	0.507000													9	150					0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16463718	16463718	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:16463718G>C	ENST00000308683.2	-	2	885	c.759C>G	c.(757-759)gaC>gaG	p.D253E		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	253						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AAAATAAGCAGTCCGTGATAG	0.478000													12	388					0	0	1	0	0
DUSP6	1848	broad.mit.edu	37	12	89745769	89745769	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:89745769G>A	ENST00000279488.7	-	1	1279	c.48C>T	c.(46-48)atC>atT	p.I16I	DUSP6_ENST00000308385.6_Silent_p.I16I	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	16					dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CCGTCTTGCTGATCGCCATTT	0.662000													8	152					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22849026	22849026	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:22849026T>G	ENST00000283645.4	+	10	1203	c.1073T>G	c.(1072-1074)tTt>tGt	p.F358C	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.F358C|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	358					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GAAGCTCCCTTTAGAACCTAC	0.428000													3	81					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22890898	22890898	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr22:22890898T>C	ENST00000543184.1	-	5	1983	c.1121A>G	c.(1120-1122)gAg>gGg	p.E374G	PRAME_ENST00000424204.2_Missense_Mutation_p.E358G|PRAME_ENST00000402697.1_Missense_Mutation_p.E374G|PRAME_ENST00000405655.3_Missense_Mutation_p.E374G|PRAME_ENST00000398743.2_Missense_Mutation_p.E374G|PRAME_ENST00000398741.1_Missense_Mutation_p.E374G|PRAME_ENST00000539862.1_Missense_Mutation_p.E358G	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	374					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGAGGCTCTCTCCAGCAGAGC	0.592000													40	162					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	124097526	124097526	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:124097526G>A	ENST00000422452.2	-	1	140	c.77C>T	c.(76-78)tCt>tTt	p.S26F	TENM1_ENST00000371130.3_Missense_Mutation_p.S26F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTCATCAGAAGAACTGGTGTA	0.448000													7	508					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186008915	186008915	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:186008915G>A	ENST00000271588.4	+	39	6313	c.6084G>A	c.(6082-6084)ccG>ccA	p.P2028P	HMCN1_ENST00000367492.2_Silent_p.P2028P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2028	Ig-like C2-type 18.				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						TTAATAACCCGGTGAGGTTAG	0.428000													12	222					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26696276	26696276	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:26696276C>T	ENST00000272371.2	-	28	3694	c.3568G>A	c.(3568-3570)Gtg>Atg	p.V1190M	OTOF_ENST00000403946.3_Missense_Mutation_p.V1190M|OTOF_ENST00000338581.6_Missense_Mutation_p.V443M|OTOF_ENST00000402415.3_Missense_Mutation_p.V500M|OTOF_ENST00000339598.3_Missense_Mutation_p.V443M	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1190					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACTCACCACTTCAAACCAC	0.592000													18	72					0	0	1	0	0
PIGZ	80235	broad.mit.edu	37	3	196678780	196678780	+	Silent	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:196678780G>C	ENST00000412723.1	-	2	269	c.123C>G	c.(121-123)ctC>ctG	p.L41L	PIGZ_ENST00000443835.1_Silent_p.L41L	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	41					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GGAGCAGGCTGAGACCACCCC	0.567000													14	115					0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31141422	31141422	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:31141422T>C	ENST00000543774.2	+	8	1191	c.856T>C	c.(856-858)Tac>Cac	p.Y286H	KAT8_ENST00000219797.4_Missense_Mutation_p.Y286H|KAT8_ENST00000448516.2_Missense_Mutation_p.Y286H			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	286					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										GTTCGTCTTTTACATCCTGAC	0.567000													38	533					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689006	109689006	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr9:109689006G>C	ENST00000277225.5	+	3	3102	c.2813G>C	c.(2812-2814)aGa>aCa	p.R938T	ZNF462_ENST00000457913.1_Missense_Mutation_p.R938T			Q96JM2	ZN462_HUMAN	zinc finger protein 462	938					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCGAATGTTAGAAGCCTGATG	0.483000													14	218					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183519058	183519058	+	Splice_Site	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:183519058G>A	ENST00000367537.3	+	21	3277	c.3082_splice	c.e21+1	p.D1028_splice	SMG7_ENST00000507469.1_Splice_Site_p.D999_splice|SMG7_ENST00000508461.1_Splice_Site_p.D1003_splice|SMG7_ENST00000347615.2_Splice_Site_p.D995_splice|SMG7_ENST00000456731.2_Splice_Site_p.D907_splice|SMG7_ENST00000515829.2_Splice_Site_p.D949_splice			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	995					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TGCCAGTTCAGGTATTAACTA	0.408000													10	119					0	0	1	0	0
DEFB118	117285	broad.mit.edu	37	20	29960701	29960701	+	Missense_Mutation	SNP	T	T	A	rs140456274	byFrequency	TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr20:29960701T>A	ENST00000253381.2	+	2	133	c.100T>A	c.(100-102)Tgc>Agc	p.C34S		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	34					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATCAGGGCACTGCAGGAAACA	0.418000													21	57					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67696342	67696342	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:67696342G>A	ENST00000545606.1	+	8	1677	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	414					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTGGCTATGTGACCCTGATGC	0.388000													9	195					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119996441	119996441	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:119996441C>A	ENST00000341846.5	-	4	1712	c.1291G>T	c.(1291-1293)Gac>Tac	p.D431Y	TRIM29_ENST00000541857.1_Missense_Mutation_p.D164Y|TRIM29_ENST00000529044.1_Missense_Mutation_p.D170Y	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	431					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D431Y(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGGCTCAGGTCCGCCTTGCAC	0.562000													5	88					0.00307968	0.00320935	1	1	0
LRRC15	131578	broad.mit.edu	37	3	194080499	194080499	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:194080499C>G	ENST00000347624.3	-	2	1359	c.1274G>C	c.(1273-1275)tGg>tCg	p.W425S	LRRC15_ENST00000439944.2_Missense_Mutation_p.W431S|LRRC15_ENST00000428839.1_Missense_Mutation_p.W431S	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	425	LRRCT.					integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GTCACACCTCCAGGGATTGTC	0.567000													3	70					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142222416	142222416	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:142222416C>G	ENST00000519067.1	-	7	2331	c.2028G>C	c.(2026-2028)caG>caC	p.Q676H	SLC45A4_ENST00000433583.2_Missense_Mutation_p.Q669H|SLC45A4_ENST00000517878.1_Missense_Mutation_p.Q727H|SLC45A4_ENST00000024061.3_Missense_Mutation_p.Q676H			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	727					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ACAGGCCTTTCTGCTCCTCCT	0.632000													3	56					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616229	248616229	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:248616229T>C	ENST00000342927.3	+	1	153	c.131T>C	c.(130-132)tTg>tCg	p.L44S		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|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;0.0265)			ACAGCCAACTTGGTCATGATT	0.507000													5	182					0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19035956	19035956	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr22:19035956G>A	ENST00000263196.7	-	7	1250	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	DGCR2_ENST00000537045.1_Missense_Mutation_p.P294S|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	335					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GTCTCACCTGGGTCCAGACAC	0.587000													45	258					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79732653	79732653	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:79732653C>T	ENST00000338008.5	+	3	329	c.149C>T	c.(148-150)tCa>tTa	p.S50L	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S50L|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S50L	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	50					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTGGCTTCCTCACAGCGAACT	0.388000													9	180					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158943456	158943456	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:158943456G>T	ENST00000368140.1	+	8	1624	c.1379G>T	c.(1378-1380)gGa>gTa	p.G460V	PYHIN1_ENST00000392254.2_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.G451V|PYHIN1_ENST00000392252.3_Intron	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	460					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACCCACCCAGGAGCACAGTCA	0.428000													7	176					3.09899e-07	3.56744e-07	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163292018	163292018	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:163292018G>A	ENST00000332142.5	-	8	1743	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G	KCNH7_ENST00000328032.4_Silent_p.G541G	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	548					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GAACAGCAGCGCCATATTCTG	0.463000													9	101					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64507579	64507579	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:64507579T>C	ENST00000377494.1	-	5	1350	c.428A>G	c.(427-429)aAg>aGg	p.K143R	RASGRP2_ENST00000394432.3_Missense_Mutation_p.K143R|RASGRP2_ENST00000377497.3_Missense_Mutation_p.K143R|RASGRP2_ENST00000354024.3_Missense_Mutation_p.K143R			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	143					platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATCTTGCGCTTTTTCTGTCC	0.592000													13	134					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190606095	190606095	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:190606095C>G	ENST00000520309.1	+	20	3816	c.3728C>G	c.(3727-3729)tCt>tGt	p.S1243C	ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.S1243C|ANKAR_ENST00000431575.2_Missense_Mutation_p.S1172C|ANKAR_ENST00000438402.2_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1243						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTGGCTCATTCTAGAGCTGGT	0.333000													15	141					0	0	1	0	0
SDS	10993	broad.mit.edu	37	12	113834980	113834980	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:113834980T>A	ENST00000257549.4	-	6	765	c.643A>T	c.(643-645)Aag>Tag	p.K215*		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	215					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CTGGTGATCTTGGGCAGGGAG	0.627000													13	57					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594167	123594167	+	Silent	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:123594167C>G	ENST00000340011.5	+	3	900	c.543C>G	c.(541-543)ctC>ctG	p.L181L	SPAM1_ENST00000439500.1_Silent_p.L181L|SPAM1_ENST00000402183.2_Silent_p.L181L|SPAM1_ENST00000223028.7_Silent_p.L181L|SPAM1_ENST00000460182.1_Silent_p.L181L	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	181					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AACTTAGTCTCACAGAGGCCA	0.388000													4	77					0	0	1	0	0
MAP10	54627	broad.mit.edu	37	1	232943587	232943587	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:232943587G>A	ENST00000418460.1	+	1	2945	c.2818G>A	c.(2818-2820)Gat>Aat	p.D940N		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		CTCTGCTAGTGATTTATCTTC	0.358000													5	70					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99802330	99802330	+	Silent	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:99802330C>A	ENST00000426455.1	+	27	3290	c.2883C>A	c.(2881-2883)gcC>gcA	p.A961A	STAG3_ENST00000394018.2_Silent_p.A903A|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.A961A|GATS_ENST00000436886.2_Intron|STAG3_ENST00000440830.1_3'UTR			Q9UJ98	STAG3_HUMAN	stromal antigen 3	961					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGACCTGGCCCGGAGGTTTG	0.567000													5	68					0.000602214	0.000643373	1	1	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121977	90121977	+	RNA	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:90121977C>A	ENST00000483379.1	+	0	376																											CAGGGAAAGTCCCTAAGCACC	0.507000													50	263					8.44121e-28	1.07598e-27	1	1	0
ADNP2	22850	broad.mit.edu	37	18	77893859	77893859	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr18:77893859G>T	ENST00000262198.4	+	4	1018	c.563G>T	c.(562-564)gGc>gTc	p.G188V		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	188					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TCCTACTTTGGCCTAAGAACT	0.378000													4	101					4.096e-09	4.8758e-09	1	1	0
HELZ	9931	broad.mit.edu	37	17	65174830	65174830	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:65174830G>A	ENST00000358691.5	-	13	1541	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W	HELZ_ENST00000580168.1_Missense_Mutation_p.R459W	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCATGTAACCGTGACTGATAG	0.378000													11	115					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9020589	9020589	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:9020589C>G	ENST00000299698.7	+	30	4049	c.3869C>G	c.(3868-3870)aCc>aGc	p.T1290S	A2ML1_ENST00000539547.1_Missense_Mutation_p.T799S	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1134						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CAGCAGGATACCCTGCCCAAT	0.483000													29	174					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135113068	135113068	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:135113068C>T	ENST00000368563.2	-	4	675	c.319G>A	c.(319-321)Gag>Aag	p.E107K	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.E107K|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.E107K|TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000417178.2_5'UTR	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	107					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCTGCAAGCTCAGCTCTTTCT	0.537000													4	86					0	0	1	0	0
PLP1	5354	broad.mit.edu	37	X	103041593	103041593	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:103041593C>G	ENST00000418604.1	+	4	671	c.391C>G	c.(391-393)Caa>Gaa	p.Q131E	PLP1_ENST00000303958.2_Missense_Mutation_p.Q131E|PLP1_ENST00000361621.2_Intron	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	131			Missing (in HLD1).		cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGGCCAACATCAAGCTCATTC	0.542000													13	377					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151388914	151388914	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr4:151388914G>A	ENST00000535741.1	-	44	7164	c.6691C>T	c.(6691-6693)Cag>Tag	p.Q2231*	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Nonsense_Mutation_p.Q2231*|LRBA_ENST00000357115.3_Nonsense_Mutation_p.Q2242*|LRBA_ENST00000507224.1_Nonsense_Mutation_p.Q2231*			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2242	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACTGGATACTGATTTAAGTCA	0.318000													9	169					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52939378	52939378	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:52939378G>A	ENST00000267119.5	-	8	1400	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	444	Tail.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		AAATTCTCCTGACATCCTATT	0.413000													5	60					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15468718	15468718	+	Missense_Mutation	SNP	G	G	C	rs138825013		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr9:15468718G>C	ENST00000380733.4	-	14	1673	c.1330C>G	c.(1330-1332)Ctt>Gtt	p.L444V	PSIP1_ENST00000380738.4_Missense_Mutation_p.L444V			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	444					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TGTTCAGCAAGAGATTTATTC	0.393000													20	231					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72408101	72408101	+	Silent	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:72408101G>C	ENST00000359373.5	-	22	3944	c.3093C>G	c.(3091-3093)ctC>ctG	p.L1031L	ARAP1_ENST00000429686.1_Silent_p.L725L|ARAP1_ENST00000455638.2_Silent_p.L1031L|ARAP1_ENST00000426523.1_Silent_p.L786L|ARAP1_ENST00000393605.3_Silent_p.L791L|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393609.3_Silent_p.L1031L|ARAP1_ENST00000334211.8_Silent_p.L786L			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1031	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GGAAGCGCTTGAGCGCCGAGG	0.672000													5	74					0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58870330	58870330	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:58870330G>A	ENST00000472469.1	-	6	879	c.41C>T	c.(40-42)aCt>aTt	p.T14I	C3orf67_ENST00000295966.7_Missense_Mutation_p.T94I|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.T94I			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	94										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GCGAAGTTTAGTCATGTTTAG	0.403000													11	312					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77302016	77302016	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:77302016G>T	ENST00000341514.6	+	23	4607	c.4452G>T	c.(4450-4452)aaG>aaT	p.K1484N	ATP7A_ENST00000343533.5_Missense_Mutation_p.K1406N|ATP7A_ENST00000350425.4_Missense_Mutation_p.K487N	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1484					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AACCTGACAAGCACTCACTCC	0.458000													39	419					6.5261e-18	8.17828e-18	1	1	0
DRD5	1816	broad.mit.edu	37	4	9783791	9783791	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr4:9783791G>A	ENST00000304374.2	+	1	534	c.138G>A	c.(136-138)ctG>ctA	p.L46L		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	46					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCGCCTGCCTGCTGACCCTAC	0.682000													3	27					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49459740	49459740	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:49459740A>G	ENST00000305531.3	-	1	60	c.14T>C	c.(13-15)aTt>aCt	p.I5T	FRMPD2_ENST00000407470.4_Intron|FRMPD2_ENST00000374201.3_Intron			Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	108					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CATGCCTACAATAAAGACATG	0.597000													5	86					0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34101264	34101264	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:34101264G>C	ENST00000341394.4	+	7	967	c.778G>C	c.(778-780)Gaa>Caa	p.E260Q	CAPRIN1_ENST00000529307.1_Missense_Mutation_p.E179Q|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.E260Q|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.E260Q|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.E260Q	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	260					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GTGTGAGGAAGAAGAGGCAGC	0.428000													6	134					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44085384	44085384	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:44085384T>C	ENST00000359947.4	+	29	5306	c.4966T>C	c.(4966-4968)Ttc>Ctc	p.F1656L	PTPRF_ENST00000438120.1_Missense_Mutation_p.F1647L|PTPRF_ENST00000372413.3_Missense_Mutation_p.F1647L|PTPRF_ENST00000372414.3_Missense_Mutation_p.F1656L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.F1015L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1656	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACGTCCCGCTTCATCAGCGC	0.597000													3	74					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3129175	3129175	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr4:3129175C>T	ENST00000355072.5	+	12	1732	c.1587C>T	c.(1585-1587)atC>atT	p.I529I		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	529		Cleavage; by apopain (Potential).			establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGGAGGATATCTTGAGCCACA	0.612000													3	82					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502000			T	MLL	ALL								4	123					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76420029	76420029	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:76420029C>T	ENST00000389840.5	-	81	13540	c.13416G>A	c.(13414-13416)gcG>gcA	p.A4472A	PGS1_ENST00000588281.1_Intron|PGS1_ENST00000329897.7_Intron|DNAH17_ENST00000586052.1_5'UTR|PGS1_ENST00000262764.6_Intron|DNAH17_ENST00000585328.1_Silent_p.A4444A					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			gGATCCACTTCGCTGCCTTCT	0.572000													5	300					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21488894	21488894	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:21488894T>C	ENST00000425654.2	+	5	1010	c.530T>C	c.(529-531)gTa>gCa	p.V177A	CNKSR2_ENST00000379510.3_Missense_Mutation_p.V177A|CNKSR2_ENST00000543067.1_Missense_Mutation_p.V177A|CNKSR2_ENST00000279451.4_Missense_Mutation_p.V177A	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	177	CRIC.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GATTGTACTGTATATGAAACA	0.249000													8	131					0	0	1	0	0
TIAF1	9220	broad.mit.edu	37	17	27417864	27417864	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:27417864G>A	ENST00000408971.2	-	0	561				MYO18A_ENST00000533112.1_Silent_p.N1719N|MYO18A_ENST00000531253.1_Silent_p.N1756N|MYO18A_ENST00000354329.4_Silent_p.N1756N|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000527372.1_Silent_p.N1756N			O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1						anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCATCAATTCGTTCATGTCTT	0.572000													7	281					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17626174	17626174	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:17626174G>C	ENST00000262077.2	-	19	3765	c.3766C>G	c.(3766-3768)Caa>Gaa	p.Q1256E	NUP153_ENST00000537253.1_Missense_Mutation_p.Q1287E	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1256					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTGCTATCTTGAGAAAATAGC	0.478000													5	78					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64599067	64599067	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr14:64599067G>C	ENST00000357395.3	+	78	14724	c.3580G>C	c.(3580-3582)Gag>Cag	p.E1194Q	SYNE2_ENST00000344113.4_Missense_Mutation_p.E4809Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1443Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4726Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1194Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4809Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4809					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCAAAACAGAGAGACATTTTG	0.383000													7	144					0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30537359	30537359	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:30537359C>G	ENST00000380412.5	-	2	277	c.102G>C	c.(100-102)gaG>gaC	p.E34D	ZNF768_ENST00000562803.1_Missense_Mutation_p.E3D|ZNF747_ENST00000569360.1_3'UTR|ZNF747_ENST00000535210.1_3'UTR	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	34	Poly-Glu.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ctTCCTCATTCTCACTCATGT	0.512000													11	177					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27101329	27101329	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:27101329G>A	ENST00000324856.7	+	18	4982	c.4611G>A	c.(4609-4611)caG>caA	p.Q1537Q	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Silent_p.Q1154Q|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1537					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACACAGATCAGAGGGCCAACC	0.612000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								12	107					0	0	1	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6525227	6525227	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:6525227C>T	ENST00000377782.3	-	3	283	c.216G>A	c.(214-216)gtG>gtA	p.V72V	TNFRSF25_ENST00000351959.5_Silent_p.V72V|TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000356876.3_Silent_p.V72V|TNFRSF25_ENST00000351748.3_Intron|TNFRSF25_ENST00000348333.3_Intron	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	72					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CTTGGGGACACACAAGGCAGG	0.627000													11	69					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36182093	36182093	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:36182093G>A	ENST00000357641.6	+	8	3172	c.2919G>A	c.(2917-2919)cgG>cgA	p.R973R	BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Silent_p.R973R|BRPF3_ENST00000543502.1_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	973					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCCACTCCCGGAAGCGGCCAA	0.612000													6	80					0	0	1	0	0
SRPK3	26576	broad.mit.edu	37	X	153047240	153047240	+	Silent	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:153047240G>T	ENST00000489426.1	+	10	2909	c.543G>T	c.(541-543)ggG>ggT	p.G181G	SRPK3_ENST00000370108.3_Silent_p.G114G|SRPK3_ENST00000393786.3_Silent_p.G114G|SRPK3_ENST00000370100.1_Silent_p.G72G|SRPK3_ENST00000370101.3_Silent_p.G114G|SRPK3_ENST00000370104.1_Silent_p.G114G			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	114	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAGTGCGGGGCATTACACGG	0.627000													7	123					0.00198382	0.00208196	1	1	0
SNRNP48	154007	broad.mit.edu	37	6	7601649	7601649	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:7601649G>T	ENST00000342415.5	+	5	546	c.487G>T	c.(487-489)Gcc>Tcc	p.A163S		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	163					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGATCGTCTTGCCCTCTATGA	0.358000													9	108					1.5842e-08	1.87081e-08	1	1	0
BECN1	8678	broad.mit.edu	37	17	40962838	40962838	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:40962838G>A	ENST00000361523.4	-	12	1425	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	BECN1_ENST00000590099.1_Silent_p.F431F|BECN1_ENST00000438274.3_3'UTR|CNTD1_ENST00000315066.5_3'UTR	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	431					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TCGTCAGCATGAACTTGAGAG	0.443000													10	223					0	0	1	0	0
IFITM1	8519	broad.mit.edu	37	11	314251	314251	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:314251C>G	ENST00000408968.3	+	1	399	c.81C>G	c.(79-81)atC>atG	p.I27M	IFITM1_ENST00000328221.5_Missense_Mutation_p.I27M|IFITM1_ENST00000528780.1_Missense_Mutation_p.I27M	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	27					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGATCAACATCCACAGCGAGA	0.582000													4	214					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160261813	160261813	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:160261813C>G	ENST00000241704.7	-	29	3365	c.3136G>C	c.(3136-3138)Gag>Cag	p.E1046Q	COPA_ENST00000368069.3_Missense_Mutation_p.E1055Q	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1046					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTGCAATCTCTTGTTTATTG	0.517000											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	205					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88767430	88767430	+	RNA	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:88767430G>C	ENST00000444431.1	+	0	2678				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										ATAGATCTTTGACCATACTTG	0.323000													7	218					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724188	7724188	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:7724188C>T	ENST00000303635.7	+	9	1788	c.1581C>T	c.(1579-1581)gtC>gtT	p.V527V	CAMTA1_ENST00000439411.2_Silent_p.V527V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTACCACCGTCCTCACCAAGG	0.637000			T	WWTR1	epitheliod hemangioendothelioma								17	104					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444306	5444306	+	Silent	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:5444306C>A	ENST00000300778.4	+	1	966	c.876C>A	c.(874-876)atC>atA	p.I292I	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAACCCCATCATTTACAGTG	0.428000													16	107					0.006122	0.00635747	1	1	0
CACNA1G	8913	broad.mit.edu	37	17	48683417	48683417	+	Silent	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:48683417G>T	ENST00000416767.4	+	23	4483	c.4455G>T	c.(4453-4455)gtG>gtT	p.V1485V	CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000359106.5_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000358244.5_Intron			O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	955					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGCTGTGGTGAAGGAGGCTG	0.612000													6	163					0.000157383	0.000170906	1	1	0
CYTH2	9266	broad.mit.edu	37	19	48981331	48981331	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:48981331C>T	ENST00000427476.1	+	9	1117	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	CYTH2_ENST00000452733.2_Missense_Mutation_p.R272W	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	273	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTCAGGGGGCCGGGTGAAGAC	0.642000													14	120					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94519635	94519635	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr9:94519635T>C	ENST00000375708.3	-	3	580	c.382A>G	c.(382-384)Aca>Gca	p.T128A	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	128	Ig-like C2-type.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAGTGTCTGTCGTGTCCAGG	0.572000													31	241					0	0	1	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57466761	57466761	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:57466761G>A	ENST00000287169.3	+	11	3215	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.G565E	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	618						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AGGGGCCGGGGAGTAGGGTCC	0.577000													6	193					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349420	30349420	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:30349420C>G	ENST00000327564.7	+	1	1397	c.1336C>G	c.(1336-1338)Ctg>Gtg	p.L446V	LRRC37B_ENST00000341671.7_Missense_Mutation_p.L419V|LRRC37B_ENST00000584368.1_Missense_Mutation_p.L431V|LRRC37B_ENST00000543378.2_Missense_Mutation_p.L337V|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000394713.3_Missense_Mutation_p.L419V			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	419						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGTTCAACCTCTGGACCTGGA	0.547000													19	245					0	0	1	0	0
CCDC6	8030	broad.mit.edu	37	10	61665885	61665885	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:61665885T>C	ENST00000263102.6	-	1	529	c.298A>G	c.(298-300)Acc>Gcc	p.T100A		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	100						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CTCACGATGGTCACGCTGGCT	0.657000			T	RET	NSCLC								3	54					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98743956	98743956	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:98743956C>T	ENST00000286067.2	+	1	2916	c.2809C>T	c.(2809-2811)Cct>Tct	p.P937S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	937										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGGAGCTACCCCTGCTAAGAA	0.488000													17	165					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141999	29141999	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:29141999A>G	ENST00000377167.2	+	1	689	c.587A>G	c.(586-588)aAt>aGt	p.N196S		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N196S(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						ACCCATGCAAATGAGCTGACC	0.473000													12	192					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966465	58966465	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:58966465G>A	ENST00000391696.1	+	3	1056	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	ZNF324B_ENST00000336614.4_Intron|ZNF324B_ENST00000545523.1_Intron			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	193	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCGGCTCCTGGGCTCCCCCTT	0.597000													5	31					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5768869	5768869	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:5768869G>A	ENST00000328090.5	+	9	998	c.373G>A	c.(373-375)Gat>Aat	p.D125N	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	125																	ATGCTTAGAAGATCGAGGGTT	0.333000													10	137					0	0	1	0	0
COL10A1	1300	broad.mit.edu	37	6	116446631	116446631	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:116446631G>A	ENST00000327673.4	-	1	432	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.L9L			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	9					skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GATACTAGCAGCAAAAAGGGT	0.378000													21	134					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42108778	42108778	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:42108778G>A	ENST00000457542.2	+	13	1801	c.1515G>A	c.(1513-1515)ctG>ctA	p.L505L	MAPKBP1_ENST00000221214.6_Silent_p.L388L|MAPKBP1_ENST00000514566.1_Silent_p.L505L|MAPKBP1_ENST00000456763.2_Silent_p.L511L|MAPKBP1_ENST00000260357.7_Silent_p.L344L	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	511										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TTCAGTCCCTGAGTGAGATGC	0.567000													5	75					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129284200	129284200	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:129284200T>G	ENST00000393239.1	-	25	4682	c.4504A>C	c.(4504-4506)Atg>Ctg	p.M1502L	PLXND1_ENST00000324093.4_Missense_Mutation_p.M1502L			Q9Y4D7	PLXD1_HUMAN	plexin D1	1502					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CAGCTGTACATGCAGATGGAC	0.652000													5	154					0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32745315	32745315	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:32745315G>A	ENST00000333070.4	+	10	1198	c.1098G>A	c.(1096-1098)ttG>ttA	p.L366L	LCK_ENST00000373564.3_Silent_p.L343L|LCK_ENST00000336890.5_Silent_p.L336L	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	336	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GCATCAAGTTGACCATCAACA	0.582000			T	TRB@	T-ALL								25	369					0	0	1	0	0
OR5K2	402135	broad.mit.edu	37	3	98217377	98217377	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:98217377C>A	ENST00000427338.1	+	1	930	c.853C>A	c.(853-855)Cta>Ata	p.L285I	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGTTCCCTTACTAAATCCTTT	0.303000													6	63					0.217242	0.218345	1	1	0
FLG	2312	broad.mit.edu	37	1	152283884	152283884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:152283884C>A	ENST00000368799.1	-	3	3513	c.3478G>T	c.(3478-3480)Gag>Tag	p.E1160*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1160	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGACCCTCTTGGGACGCT	0.607000									Ichthyosis				15	1155					7.93312e-07	9.06206e-07	1	1	0
TET1	80312	broad.mit.edu	37	10	70406321	70406321	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:70406321G>A	ENST00000373644.4	+	4	4044	c.3835G>A	c.(3835-3837)Gat>Aat	p.D1279N		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1279					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGCATTCACTGATAAAGCTTA	0.443000													4	111					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107691376	107691376	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:107691376C>A	ENST00000370067.1	+	2	788	c.161C>A	c.(160-162)tCc>tAc	p.S54Y	NTNG1_ENST00000370071.2_Missense_Mutation_p.S54Y|NTNG1_ENST00000370061.3_Missense_Mutation_p.S54Y|NTNG1_ENST00000370074.4_Missense_Mutation_p.S54Y|NTNG1_ENST00000370070.2_Missense_Mutation_p.S54Y|NTNG1_ENST00000370068.1_Missense_Mutation_p.S54Y|NTNG1_ENST00000370072.3_Missense_Mutation_p.S54Y|NTNG1_ENST00000370066.1_Missense_Mutation_p.S54Y|NTNG1_ENST00000370065.1_Missense_Mutation_p.S54Y|NTNG1_ENST00000370073.2_Missense_Mutation_p.S54Y|NTNG1_ENST00000542803.1_Missense_Mutation_p.S54Y			Q9Y2I2	NTNG1_HUMAN	netrin G1	54	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CAGCCGGAATCCACGGACATG	0.473000													23	189					1.1804e-14	1.45468e-14	1	1	0
RNF213	57674	broad.mit.edu	37	17	78280206	78280206	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:78280206C>T	ENST00000582970.1	+	12	2508	c.2365C>T	c.(2365-2367)Ctg>Ttg	p.L789L	RNF213_ENST00000508628.2_Silent_p.L838L|RNF213_ENST00000319921.4_Silent_p.L789L|RNF213_ENST00000456466.1_Silent_p.L789L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	789										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCTCATATCCTGGACTGTCT	0.502000													9	99					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46659259	46659259	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:46659259G>C	ENST00000544460.1	+	1	3648	c.3394G>C	c.(3394-3396)Gat>Cat	p.D1132H	TDRD6_ENST00000316081.6_Missense_Mutation_p.D1132H	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1132					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGTAGCAAAAGATCCAGATGG	0.333000													8	176					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107404898	107404898	+	Silent	SNP	A	A	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:107404898A>T	ENST00000394872.2	-	42	4518	c.4287T>A	c.(4285-4287)gcT>gcA	p.A1429A	COL4A6_ENST00000545689.1_Silent_p.A1404A|COL4A6_ENST00000538570.1_Silent_p.A1371A|COL4A6_ENST00000334504.7_Silent_p.A1428A|COL4A6_ENST00000372216.4_Silent_p.A1429A			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1429	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GATCACCAAGAGCCCCAGGTG	0.617000									Alport syndrome with Diffuse Leiomyomatosis				3	59					0	0	1	0	0
CA1	759	broad.mit.edu	37	8	86250676	86250676	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:86250676G>T	ENST00000523953.1	-	4	1086	c.40C>A	c.(40-42)Cct>Act	p.P14T	CA1_ENST00000542576.1_Missense_Mutation_p.P14T|CA1_ENST00000523022.1_Missense_Mutation_p.P14T|CA1_ENST00000431316.1_Missense_Mutation_p.P14T|CA1_ENST00000522389.1_Intron|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000432364.2_Missense_Mutation_p.P14T|CA1_ENST00000256119.5_Missense_Mutation_p.P14T			P00915	CAH1_HUMAN	carbonic anhydrase I	14					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	CATTGTTCAGGACCTACCAGG	0.388000													18	220					8.04996e-18	1.00667e-17	1	1	0
MYH8	4626	broad.mit.edu	37	17	10323413	10323413	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:10323413C>A	ENST00000403437.2	-	3	226	c.132G>T	c.(130-132)gaG>gaT	p.E44D	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	44	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTCCTTGGGCTCCGCCACAA	0.453000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				48	400					1.46156e-29	1.86702e-29	1	1	0
DNER	92737	broad.mit.edu	37	2	230231817	230231817	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:230231817C>A	ENST00000341772.4	-	12	2008	c.1874G>T	c.(1873-1875)gGg>gTg	p.G625V		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	625					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CGCCATGTGCCCGGACTTCCA	0.498000													3	63					0.00909568	0.00936366	1	1	0
RBM10	8241	broad.mit.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662000													3	44					0.150653	0.151932	1	1	0
RTN4RL2	349667	broad.mit.edu	37	11	57235268	57235268	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:57235268G>C	ENST00000335099.3	+	2	535	c.218G>C	c.(217-219)cGc>cCc	p.R73P	RTN4RL2_ENST00000395120.2_Missense_Mutation_p.R73P|RTN4RL2_ENST00000533205.1_Missense_Mutation_p.R73P	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	73					axon regeneration	anchored to plasma membrane	receptor activity	p.R73H(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AACCTCATCCGCACGCTGCGG	0.622000													19	254					0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119505047	119505047	+	Missense_Mutation	SNP	C	C	A	rs140495898		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:119505047C>A	ENST00000218008.3	+	4	601	c.544C>A	c.(544-546)Cta>Ata	p.L182I	ATP1B4_ENST00000539306.1_Missense_Mutation_p.L139I|ATP1B4_ENST00000361319.3_Missense_Mutation_p.L178I	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	182					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TGTGATTAGCCTAAATGGCTT	0.438000													11	151					1.15088e-07	1.33e-07	1	1	0
CPEB4	80315	broad.mit.edu	37	5	173376510	173376510	+	Splice_Site	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:173376510G>T	ENST00000265085.5	+	6	2910		c.e6-1		CPEB4_ENST00000517880.1_Splice_Site|CPEB4_ENST00000522336.1_Splice_Site|CPEB4_ENST00000334035.5_Splice_Site|CPEB4_ENST00000520867.1_Splice_Site|CPEB4_ENST00000519835.1_Splice_Site|CPEB4_ENST00000519467.1_Splice_Site	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4								nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTGTTTATTAGATGAGATCAC	0.318000													9	77					5.50884e-06	6.17406e-06	1	1	0
NRROS	375387	broad.mit.edu	37	3	196387860	196387860	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:196387860G>A	ENST00000328557.4	+	3	1549	c.1346G>A	c.(1345-1347)cGg>cAg	p.R449Q		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		GCCTCGGACCGGGTGGGCCCC	0.587000													8	452					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169566259	169566259	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:169566259T>A	ENST00000263686.6	-	11	1898	c.1861A>T	c.(1861-1863)Aga>Tga	p.R621*	SELP_ENST00000367793.2_Nonsense_Mutation_p.R559*|SELP_ENST00000367794.2_Nonsense_Mutation_p.R559*|SELP_ENST00000367792.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367788.2_Nonsense_Mutation_p.R559*|SELP_ENST00000367786.2_Nonsense_Mutation_p.R559*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	621	Sushi 7.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GCTGACCATCTTCCAGAAGTT	0.413000													9	142					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65889560	65889560	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:65889560C>G	ENST00000321892.4	+	8	2569	c.2508C>G	c.(2506-2508)atC>atG	p.I836M	BPTF_ENST00000424123.3_Missense_Mutation_p.I697M|BPTF_ENST00000335221.5_Missense_Mutation_p.I836M|BPTF_ENST00000306378.6_Missense_Mutation_p.I710M			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	836					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGGAAATATCAACAATTATT	0.373000													7	111					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558619	140558619	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:140558619T>A	ENST00000239444.2	+	1	1249	c.1004T>A	c.(1003-1005)cTg>cAg	p.L335Q		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		335	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCACCGTTCTGATTCAAGTG	0.433000													13	908					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31232520	31232520	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr13:31232520C>A	ENST00000255304.4	+	9	2648	c.2306C>A	c.(2305-2307)tCt>tAt	p.S769Y		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	769					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGGGGTGCTTCTTTTATGCCA	0.358000													15	175					1.40151e-16	1.73799e-16	1	1	0
TTN	7273	broad.mit.edu	37	2	179597671	179597671	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:179597671G>T	ENST00000589042.1	-	55	16456	c.16232C>A	c.(16231-16233)aCa>aAa	p.T5411K	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T4167K|TTN_ENST00000591111.1_Missense_Mutation_p.T5094K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5094							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAGAGGCTGTGCCTTCCAC	0.488000													5	59					1.23904e-05	1.38084e-05	1	1	0
RGAG1	57529	broad.mit.edu	37	X	109697858	109697858	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:109697858G>C	ENST00000465301.2	+	3	4259	c.4013G>C	c.(4012-4014)gGg>gCg	p.G1338A	RGAG1_ENST00000540313.1_Missense_Mutation_p.G1338A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1338										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GAGGCCATGGGGAATGAACTG	0.532000													4	56					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211192256	211192256	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:211192256G>A	ENST00000367007.4	-	6	1070	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L	KCNH1_ENST00000271751.4_Silent_p.L301L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	301					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AAACAGGACAGAAGGTCAATC	0.453000													6	234					0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71531833	71531833	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:71531833C>A	ENST00000393330.2	-	9	896	c.344G>T	c.(343-345)cGc>cTc	p.R115L	TSPAN8_ENST00000552128.1_Missense_Mutation_p.R32L|TSPAN8_ENST00000546561.1_Missense_Mutation_p.R115L|TSPAN8_ENST00000247829.3_Missense_Mutation_p.R115L			P19075	TSN8_HUMAN	tetraspanin 8	115					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			ATTCACAATGCGATCAGACTG	0.348000													13	166					0.000422831	0.000453361	1	1	0
ITLN1	55600	broad.mit.edu	37	1	160854633	160854633	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:160854633G>C	ENST00000326245.3	-	2	150	c.35C>G	c.(34-36)gCg>gGg	p.A12G		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	12					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTGGTGGTCGCTATGAGAAA	0.507000													58	467					0	0	1	0	0
ADGRG6	57211	broad.mit.edu	37	6	142741159	142741159	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:142741159G>A	ENST00000230173.6	+	22	3713	c.3237G>A	c.(3235-3237)atG>atA	p.M1079I	GPR126_ENST00000296932.8_Missense_Mutation_p.M1051I|GPR126_ENST00000367608.2_Missense_Mutation_p.M1051I|GPR126_ENST00000367609.3_Missense_Mutation_p.M1079I	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	1079					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TGTTGGGCATGACATGGGGTT	0.453000													10	245					0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118147113	118147113	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:118147113C>A	ENST00000365713.2	+	8	1963	c.1800C>A	c.(1798-1800)agC>agA	p.S600R	LONRF3_ENST00000371628.3_Missense_Mutation_p.S641R|LONRF3_ENST00000304778.7_Missense_Mutation_p.S600R|LONRF3_ENST00000422289.2_Missense_Mutation_p.S385R|LONRF3_ENST00000472173.1_3'UTR			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	641	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TCCATCAGAGCCAGCGGGATG	0.507000													13	155					0.000219431	0.000237851	1	1	0
ZNF236	7776	broad.mit.edu	37	18	74639995	74639995	+	Silent	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr18:74639995A>G	ENST00000253159.8	+	25	4719	c.4521A>G	c.(4519-4521)gcA>gcG	p.A1507A	ZNF236_ENST00000320610.9_Silent_p.A1509A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1507					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGGTCCTGGCACAGGCCGCTG	0.537000													11	130					0	0	1	0	0
AMELX	265	broad.mit.edu	37	X	11316820	11316820	+	Silent	SNP	A	A	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:11316820A>T	ENST00000380712.3	+	6	407	c.339A>T	c.(337-339)ccA>ccT	p.P113P	ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000348912.4_Silent_p.P83P|AMELX_ENST00000380714.3_Silent_p.P99P|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	99					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CCCAGCAACCAATGATGCCCG	0.642000													26	405					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73409403	73409403	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr13:73409403G>A	ENST00000326291.6	+	9	1458	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	374						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AACAGAATATGAAAATAAACT	0.313000													13	128					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10417474	10417474	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:10417474G>A	ENST00000274140.5	+	22	2373	c.2241G>A	c.(2239-2241)ctG>ctA	p.L747L	MARCH6_ENST00000449913.2_Silent_p.L699L|MARCH6_ENST00000510792.1_Silent_p.L445L|MARCH6_ENST00000503788.1_Silent_p.L642L	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	747					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGGCTCCCCTGAGGGTTCCCT	0.438000													9	170					0	0	1	0	0
WFDC5	149708	broad.mit.edu	37	20	43739335	43739335	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr20:43739335G>T	ENST00000307971.4	-	2	245	c.167C>A	c.(166-168)cCc>cAc	p.P56H	WFDC5_ENST00000372789.4_Missense_Mutation_p.P56H			Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5	56	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CCTGGTCAAGGGACACTGGCT	0.592000													8	55					0.000978159	0.0010357	1	1	0
RB1	5925	broad.mit.edu	37	13	48919290	48919290	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr13:48919290T>A	ENST00000267163.4	+	4	593	c.455T>A	c.(454-456)tTg>tAg	p.L152*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	152					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCAAGACTGTTGAAGAAGTAT	0.294000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			23	151					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45360738	45360738	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:45360738C>T	ENST00000559488.1	+	3	200	c.184C>T	c.(184-186)Cct>Tct	p.P62S	ITGB3_ENST00000435993.2_Missense_Mutation_p.P15S|ITGB3_ENST00000560629.1_Missense_Mutation_p.T50I|ITGB3_ENST00000571680.1_Missense_Mutation_p.P62S	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	62					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TCTGGGCTCACCTCGCTGTGA	0.572000													4	108					0	0	1	0	0
MOSPD1	56180	broad.mit.edu	37	X	134030923	134030923	+	Silent	SNP	T	T	C	rs145465270	byFrequency	TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:134030923T>C	ENST00000370783.3	-	4	558	c.372A>G	c.(370-372)caA>caG	p.Q124Q	MOSPD1_ENST00000491609.1_5'UTR|MOSPD1_ENST00000370777.1_Silent_p.Q124Q|MOSPD1_ENST00000370779.4_Silent_p.Q124Q	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	124	MSP.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					CTTCCTTTTGTTGTTCTTTTG	0.373000													6	159					0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102215836	102215836	+	Silent	SNP	T	T	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:102215836T>G	ENST00000335968.3	-	13	1971	c.1755A>C	c.(1753-1755)ctA>ctC	p.L585L		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	585					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAATCTCTCCTAGGAAGTTTT	0.428000													9	177					0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43309813	43309813	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:43309813G>A	ENST00000331495.3	+	3	629	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	FMNL1_ENST00000328118.3_Missense_Mutation_p.R98Q|FMNL1_ENST00000592006.1_3'UTR	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	98	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GGGGTCAGCCGAAAGGTAGCA	0.552000													6	105					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670157	95670157	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr14:95670157C>A	ENST00000298912.4	-	9	1642	c.1529G>T	c.(1528-1530)gGt>gTt	p.G510V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	510						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTCTAAAGCACCATTACAGGA	0.463000													10	72					3.86212e-05	4.26412e-05	1	1	0
FAM64A	54478	broad.mit.edu	37	17	6351054	6351054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:6351054C>A	ENST00000572447.1	+	3	675	c.566C>A	c.(565-567)tCa>tAa	p.S189*	FAM64A_ENST00000572595.2_Nonsense_Mutation_p.S220*|FAM64A_ENST00000250056.8_Nonsense_Mutation_p.S189*|FAM64A_ENST00000570337.2_Nonsense_Mutation_p.S189*|FAM64A_ENST00000576056.1_Nonsense_Mutation_p.S189*|FAM64A_ENST00000571373.1_Nonsense_Mutation_p.S189*	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	189						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CCCTACTCCTCAACAGAGCCC	0.627000													5	72					5.9392e-07	6.79747e-07	1	1	0
ADCY10	55811	broad.mit.edu	37	1	167865893	167865893	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:167865893C>A	ENST00000367848.1	-	7	900	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	ADCY10_ENST00000545172.1_Missense_Mutation_p.D74Y|ADCY10_ENST00000367851.4_Missense_Mutation_p.D227Y			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	227	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAAAATTCATCAAAATTAAAA	0.348000													30	407					1.26612e-14	1.55709e-14	1	1	0
DNAAF1	123872	broad.mit.edu	37	16	84199519	84199519	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:84199519G>C	ENST00000378553.5	+	7	1118	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	DNAAF1_ENST00000334315.5_Missense_Mutation_p.E332Q|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	332					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GCAGCGGGCAGAGGAGAGGAA	0.537000													6	239					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18331240	18331240	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:18331240G>C	ENST00000355502.3	-	10	1552	c.681C>G	c.(679-681)caC>caG	p.H227Q	PDE4C_ENST00000447275.2_Missense_Mutation_p.H121Q|PDE4C_ENST00000594617.2_Missense_Mutation_p.H227Q|PDE4C_ENST00000539010.1_5'UTR|PDE4C_ENST00000262805.11_Missense_Mutation_p.H195Q|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Missense_Mutation_p.H227Q			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	227					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CCCCCACCGAGTGCCGGGTCT	0.642000													17	76					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36362408	36362408	+	Silent	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr13:36362408A>G	ENST00000255448.4	-	17	2284	c.2073T>C	c.(2071-2073)ttT>ttC	p.F691F	DCLK1_ENST00000360631.3_Intron|DCLK1_ENST00000379893.1_Intron	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	584					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCTTGATGGTAAACCCGTGGT	0.463000													11	176					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307339	162307339	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr4:162307339C>G	ENST00000306100.5	-	16	2540	c.2104G>C	c.(2104-2106)Gat>Cat	p.D702H	FSTL5_ENST00000427802.2_Missense_Mutation_p.D692H|FSTL5_ENST00000379164.4_Missense_Mutation_p.D701H|FSTL5_ENST00000536695.1_Missense_Mutation_p.D701H|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	702						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TAGTGGCCATCTGGAGAGACA	0.468000													12	132					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22396310	22396310	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:22396310C>T	ENST00000263160.3	+	9	1488	c.1051C>T	c.(1051-1053)Cta>Tta	p.L351L		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	351					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGTTGGTATGCTATCTGCTGT	0.373000													8	436					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42458362	42458362	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:42458362C>G	ENST00000262407.5	-	13	1309	c.1278G>C	c.(1276-1278)caG>caC	p.Q426H	ITGA2B_ENST00000377068.3_Missense_Mutation_p.Q111H|ITGA2B_ENST00000353281.4_Missense_Mutation_p.Q426H	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	426					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GCCCCTCACTCTGACCCAGGA	0.617000													7	104					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616222	179616222	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:179616222C>T	ENST00000360870.5	-	46	11127	c.10905G>A	c.(10903-10905)ctG>ctA	p.L3635L	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9484	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTAAACCTCAGGTCAACCT	0.368000													13	193					0	0	1	0	0
C14orf142	84520	broad.mit.edu	37	14	93673190	93673190	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr14:93673190C>G	ENST00000306954.4	-	1	249	c.193G>C	c.(193-195)Gac>Cac	p.D65H	RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron	NM_032490.4	NP_115879.2	Q9BXV9	CN142_HUMAN	chromosome 14 open reading frame 142	65										endometrium(1)|skin(1)	2		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203)		AAGTCCTCGTCTGGAGCCGCC	0.647000											OREG0022885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	44					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162895681	162895681	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:162895681G>A	ENST00000360534.3	-	6	940	c.380C>T	c.(379-381)tCc>tTc	p.S127F		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	127					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	AGCTGTGTAGGAATGCCTCCA	0.358000													4	61					0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148552384	148552384	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:148552384C>G	ENST00000491148.1	+	4	581	c.247C>G	c.(247-249)Cta>Gta	p.L83V	CPB1_ENST00000282957.4_Missense_Mutation_p.L83V			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	83					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GGAGAATGTTCTAAAGCAGAA	0.368000													9	130					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3731984	3731984	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:3731984C>T	ENST00000541714.2	+	6	1127	c.665C>T	c.(664-666)tCg>tTg	p.S222L	TJP3_ENST00000262968.9_Missense_Mutation_p.S241L|TJP3_ENST00000539908.2_Missense_Mutation_p.S186L|TJP3_ENST00000589378.1_Missense_Mutation_p.S231L|TJP3_ENST00000587686.1_Missense_Mutation_p.S241L|TJP3_ENST00000382008.3_Missense_Mutation_p.S222L	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	222	PDZ 2.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTACAGATTCGGGCCTGGCT	0.592000													4	81					0	0	1	0	0
GKN1	56287	broad.mit.edu	37	2	69204666	69204666	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:69204666G>T	ENST00000377938.2	+	2	157	c.94G>T	c.(94-96)Gcc>Tcc	p.A32S		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	32					digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						TCTAGCTCCTGCCCTAGCTAA	0.368000													14	183					5.3912e-06	6.0651e-06	1	1	0
LETMD1	25875	broad.mit.edu	37	12	51450027	51450027	+	Splice_Site	SNP	T	T	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:51450027T>G	ENST00000418425.2	+	6	819	c.801_splice	c.e6+1	p.V267_splice	LETMD1_ENST00000262055.4_Splice_Site_p.V254_splice|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000552739.1_Splice_Site_p.V137_splice|LETMD1_ENST00000550929.1_Splice_Site_p.V198_splice|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000548516.1_Intron	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	254	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GCTTTGCACGTGGTGAGCACT	0.478000													4	166					0	0	1	0	0
GGA2	23062	broad.mit.edu	37	16	23491170	23491170	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:23491170G>A	ENST00000309859.4	-	11	1127	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	GGA2_ENST00000567468.1_Intron|GGA2_ENST00000569182.1_5'UTR	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	349	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		AAGTCAATCAGGGGGCAGGTC	0.532000													8	62					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36937422	36937422	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr20:36937422C>G	ENST00000262865.4	+	3	437	c.348C>G	c.(346-348)atC>atG	p.I116M	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	116					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				ACGCCAATATCAAGATCAGCG	0.488000													22	132					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125521547	125521547	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:125521547T>A	ENST00000241305.3	-	11	1772	c.1618A>T	c.(1618-1620)Acc>Tcc	p.T540S	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	540					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)		GGGGTGGGGGTGTGTTCCTGC	0.657000													12	145					0	0	1	0	0
PRMT3	10196	broad.mit.edu	37	11	20473680	20473680	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:20473680A>G	ENST00000331079.6	+	11	1215	c.998A>G	c.(997-999)tAt>tGt	p.Y333C	PRMT3_ENST00000437750.2_Missense_Mutation_p.Y271C	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	333							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ATGCAGGGCTATTTTCTTCTG	0.338000													13	87					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30735392	30735392	+	Silent	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:30735392G>T	ENST00000262518.4	+	25	5032	c.4647G>T	c.(4645-4647)ctG>ctT	p.L1549L	SRCAP_ENST00000395059.2_Silent_p.L1487L|SRCAP_ENST00000344771.4_Silent_p.L1391L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1549	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CACCTGTCCTGGTGCCAGCTT	0.577000													7	59					0.00307968	0.00320935	1	1	0
GPR174	84636	broad.mit.edu	37	X	78426678	78426678	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:78426678G>T	ENST00000276077.1	+	1	210	c.174G>T	c.(172-174)atG>atT	p.M58I		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	58						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.M58I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TGATATTTATGATAAACTTAG	0.408000										HNSCC(63;0.18)			3	18					0.00024832	0.000268674	1	1	0
SLC22A8	9376	broad.mit.edu	37	11	62763220	62763220	+	Silent	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:62763220C>G	ENST00000336232.2	-	7	1092	c.957G>C	c.(955-957)cgG>cgC	p.R319R	SLC22A8_ENST00000535878.1_Silent_p.R196R|SLC22A8_ENST00000430500.2_Silent_p.R319R|SLC22A8_ENST00000545207.1_Silent_p.R228R|SLC22A8_ENST00000311438.8_Silent_p.R319R	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	319					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GCATGGGTATCCGGAACAGGT	0.607000													9	218					0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168430277	168430277	+	Silent	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:168430277C>G	ENST00000443060.2	+	3	403	c.12C>G	c.(10-12)acC>acG	p.T4T	KIF25_ENST00000354419.2_Silent_p.T4T|KIF25_ENST00000351261.3_Silent_p.T4T			Q9UIL4	KIF25_HUMAN	kinesin family member 25	4	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGACATGGACCTCAGGTCAGC	0.622000													6	240					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110826257	110826257	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr13:110826257C>T	ENST00000375820.4	-	40	3616	c.3495G>A	c.(3493-3495)aaG>aaA	p.K1165K		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1165	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGTTCACCCTTCTCTCCTG	0.582000													12	135					0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64574030	64574030	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:64574030C>T	ENST00000242480.3	-	2	693	c.368G>A	c.(367-369)gGg>gAg	p.G123E	EGR2_ENST00000439032.1_Missense_Mutation_p.G123E|EGR2_ENST00000411732.1_Missense_Mutation_p.G73E	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	123					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGAAGTGACCCCTTGCAAGAT	0.567000													3	100					0	0	1	0	0
PRLHR	2834	broad.mit.edu	37	10	120354355	120354355	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:120354355G>T	ENST00000239032.2	-	2	540	c.402C>A	c.(400-402)tgC>tgA	p.C134*	PRLHR_ENST00000369169.1_Nonsense_Mutation_p.C134*	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	134					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AGACCAGGTGGCACAGGCCGC	0.662000													4	29					0.150653	0.151932	1	1	0
LRRC15	131578	broad.mit.edu	37	3	194080498	194080498	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:194080498C>A	ENST00000347624.3	-	2	1360	c.1275G>T	c.(1273-1275)tgG>tgT	p.W425C	LRRC15_ENST00000439944.2_Missense_Mutation_p.W431C|LRRC15_ENST00000428839.1_Missense_Mutation_p.W431C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	425	LRRCT.					integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGTCACACCTCCAGGGATTGT	0.572000													4	69					2.56e-06	2.90198e-06	1	1	0
CABYR	26256	broad.mit.edu	37	18	21735969	21735969	+	Silent	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr18:21735969C>G	ENST00000399481.2	+	2	362	c.210C>G	c.(208-210)gtC>gtG	p.V70V	CABYR_ENST00000399496.3_Silent_p.V168V|CABYR_ENST00000327201.6_Silent_p.V70V|CABYR_ENST00000399499.1_Silent_p.V168V|CABYR_ENST00000415309.2_Silent_p.V168V|CABYR_ENST00000581397.1_Silent_p.V168V			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	168					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TTGCCTACGTCCCAGCTGACC	0.488000													19	150					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753930	140753930	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:140753930G>A	ENST00000517434.1	+	1	280	c.280G>A	c.(280-282)Gag>Aag	p.E94K	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCGCGAGGAGCTCTGTGC	0.532000													7	113					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516240	140516240	+	Silent	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:140516240G>C	ENST00000231134.5	+	1	1441	c.1224G>C	c.(1222-1224)ctG>ctC	p.L408L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		408	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGAACACTGGACAGAGAGA	0.498000													18	127					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	179989093	179989093	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:179989093C>A	ENST00000428443.3	-	11	1481	c.1165G>T	c.(1165-1167)Gat>Tat	p.D389Y		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	389					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACACTTACATCTTGGGCAACA	0.363000													12	101					3.27435e-08	3.81366e-08	1	1	0
ASIP	434	broad.mit.edu	37	20	32848259	32848259	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr20:32848259G>A	ENST00000568305.1	+	2	281	c.79G>A	c.(79-81)Gag>Aag	p.E27K	ASIP_ENST00000374954.3_Missense_Mutation_p.E27K|RP4-785G19.5_ENST00000512005.1_RNA			P42127	ASIP_HUMAN	agouti signaling protein	27					cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)|lung(2)	3						CCTGCCACCTGAGGAGAAGCT	0.567000													14	297					0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66480251	66480251	+	Silent	SNP	G	G	A	rs145882271		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:66480251G>A	ENST00000256447.4	-	3	577	c.420C>T	c.(418-420)ctC>ctT	p.L140L		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	140					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GAATAAACTCGAGATTGGATA	0.423000													10	284					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35614761	35614761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:35614761G>A	ENST00000353139.5	-	14	2171	c.1690C>T	c.(1690-1692)Cag>Tag	p.Q564*	ACACA_ENST00000335166.5_Nonsense_Mutation_p.Q449*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.Q469*|ACACA_ENST00000394406.2_Nonsense_Mutation_p.Q527*	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	527	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTAGCTCCTGAACTGTTCCT	0.388000													9	196					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22980100	22980100	+	Silent	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:22980100G>T	ENST00000313077.7	+	23	2723	c.2598G>T	c.(2596-2598)cgG>cgT	p.R866R	CYFIP1_ENST00000560848.1_Silent_p.R866R|CYFIP1_ENST00000435939.2_Silent_p.R435R	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	866					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GGTTTGTTCGGACAGTGTTAC	0.353000													4	82					0.150653	0.151932	1	1	0
TFDP2	7029	broad.mit.edu	37	3	141713899	141713899	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:141713899G>T	ENST00000499676.2	-	5	759	c.88C>A	c.(88-90)Cag>Aag	p.Q30K	TFDP2_ENST00000495310.1_Intron|TFDP2_ENST00000310282.6_Missense_Mutation_p.Q30K|TFDP2_ENST00000489671.1_Missense_Mutation_p.Q91K|TFDP2_ENST00000479040.1_Missense_Mutation_p.Q30K|TFDP2_ENST00000477292.1_Intron|TFDP2_ENST00000486111.1_Missense_Mutation_p.Q30K|TFDP2_ENST00000397991.4_Missense_Mutation_p.Q63K|TFDP2_ENST00000467072.1_Missense_Mutation_p.Q30K|TFDP2_ENST00000464782.1_Intron|TFDP2_ENST00000317104.7_Missense_Mutation_p.Q30K	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	91					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						ATGTGTGTCTGAGTAACCATT	0.403000													8	243					5.50884e-06	6.17406e-06	1	1	0
EPHB1	2047	broad.mit.edu	37	3	134960099	134960099	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:134960099C>A	ENST00000398015.3	+	13	2826	c.2456C>A	c.(2455-2457)tCa>tAa	p.S819*	EPHB1_ENST00000493838.1_Nonsense_Mutation_p.S380*	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	819	Protein kinase.			S -> Y (in Ref. 2; AAD02030/AAB94627).		integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GAAGTCATGTCATTTGGAGAG	0.522000													63	462					2.14232e-31	2.74254e-31	1	1	0
CABP1	9478	broad.mit.edu	37	12	121098586	121098586	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:121098586C>T	ENST00000453000.1	+	4	1202	c.690C>T	c.(688-690)ctC>ctT	p.L230L	CABP1_ENST00000288616.3_Silent_p.L151L|CABP1_ENST00000351200.2_Silent_p.L91L|CABP1_ENST00000316803.3_Silent_p.L294L			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	294	EF-hand 1.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCCTAAACTCCTGGCAGAGA	0.527000													19	396					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64172148	64172148	+	Silent	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr18:64172148G>C	ENST00000262150.2	-	12	2512	c.2220C>G	c.(2218-2220)gtC>gtG	p.V740V		NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	740					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CCTGATCAGAGACTGCTGATT	0.453000													3	66					0	0	1	0	0
KAT5	10524	broad.mit.edu	37	11	65482191	65482191	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:65482191C>G	ENST00000341318.4	+	7	1150	c.916C>G	c.(916-918)Ctc>Gtc	p.L306V	KAT5_ENST00000352980.4_Missense_Mutation_p.L221V|KAT5_ENST00000530446.1_Missense_Mutation_p.L254V|KAT5_ENST00000534650.1_Missense_Mutation_p.L62V|KAT5_ENST00000377046.3_Missense_Mutation_p.L273V	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	273					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CGGCCGTAGTCTCAAGTGTCT	0.587000													13	389					0	0	1	0	0
TRIB1	10221	broad.mit.edu	37	8	126448642	126448642	+	Missense_Mutation	SNP	G	G	C	rs12547645		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:126448642G>C	ENST00000311922.3	+	3	1630	c.1048G>C	c.(1048-1050)Gaa>Caa	p.E350Q	TRIB1_ENST00000520847.1_Missense_Mutation_p.E184Q|TRIB1_ENST00000519576.1_Missense_Mutation_p.E119Q	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	350					JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CATCGACTCAGAAATAGGAAC	0.517000													5	143					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41545684	41545684	+	Silent	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:41545684G>C	ENST00000396942.1	-	35	4331	c.4248C>G	c.(4246-4248)ctC>ctG	p.L1416L	ANK1_ENST00000347528.4_Silent_p.L1416L|ANK1_ENST00000379758.2_Silent_p.L1416L|ANK1_ENST00000289734.7_Silent_p.L1416L|ANK1_ENST00000352337.4_Silent_p.L1416L|ANK1_ENST00000396945.1_Silent_p.L1416L|ANK1_ENST00000265709.8_Silent_p.L1457L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1416	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGCCCAGCTGAGACCGAGGT	0.507000													22	519					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21739821	21739821	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr18:21739821C>T	ENST00000399496.3	+	5	1092	c.927C>T	c.(925-927)acC>acT	p.T309T	CABYR_ENST00000327201.6_Silent_p.T211T|CABYR_ENST00000399499.1_Silent_p.T309T|RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000581397.1_Silent_p.T309T	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	0					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					AGAAACATACCCTAAGTCCCC	0.458000													16	179					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30734044	30734044	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:30734044C>T	ENST00000262518.4	+	23	4252	c.3867C>T	c.(3865-3867)ctC>ctT	p.L1289L	SRCAP_ENST00000395059.2_Intron|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1289	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTACTGGCCTCAGCCTTCCGC	0.652000													6	451					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41799416	41799416	+	Missense_Mutation	SNP	C	C	A	rs141709767		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:41799416C>A	ENST00000263800.6	-	11	1514	c.1418G>T	c.(1417-1419)cGa>cTa	p.R473L	LTK_ENST00000561619.1_Missense_Mutation_p.R171L|LTK_ENST00000453182.2_Intron|LTK_ENST00000355166.5_Missense_Mutation_p.R412L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	473					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GGCAGAGGTTCGAAGCTTGCT	0.617000										TSP Lung(18;0.14)			7	82					8.12818e-05	8.85898e-05	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43819416	43819416	+	Silent	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:43819416A>G	ENST00000389420.3	-	28	4184	c.4185T>C	c.(4183-4185)gaT>gaC	p.D1395D	ADAMTS20_ENST00000553158.1_Silent_p.D1395D|ADAMTS20_ENST00000395541.2_Silent_p.D513D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1395	TSP type-1 10.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CACAGTTGTGATCTTCTAATA	0.388000													7	44					0	0	1	0	0
BCL2L13	23786	broad.mit.edu	37	22	18171845	18171845	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr22:18171845G>A	ENST00000355028.3	+	4	449	c.323G>A	c.(322-324)gGa>gAa	p.G108E	BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000543133.1_Intron|BCL2L13_ENST00000317582.5_Missense_Mutation_p.G108E|BCL2L13_ENST00000493680.1_Missense_Mutation_p.G108E|BCL2L13_ENST00000399782.1_Missense_Mutation_p.G108E|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000418951.2_3'UTR	NM_001270733.1|NM_001270734.1	NP_001257662.1|NP_001257663.1	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	108					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GCCCATCTTGGAGAAAAAGTG	0.498000													6	108					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237870402	237870402	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:237870402A>C	ENST00000366574.2	+	68	10051	c.9734A>C	c.(9733-9735)tAc>tCc	p.Y3245S	RYR2_ENST00000542537.1_Missense_Mutation_p.Y3229S|RYR2_ENST00000360064.6_Missense_Mutation_p.Y3243S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3245					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTGCAGCTACATGTCTCGT	0.512000													14	110					0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49340701	49340701	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:49340701C>G	ENST00000225298.7	+	2	466	c.409C>G	c.(409-411)Caa>Gaa	p.Q137E		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	137					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			TTTTCCACCTCAAAAGAAGCC	0.398000													9	103					0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137230183	137230183	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:137230183C>A	ENST00000508638.1	+	4	464	c.409C>A	c.(409-411)Cgc>Agc	p.R137S	PKD2L2_ENST00000350250.4_Missense_Mutation_p.R103S|PKD2L2_ENST00000290431.5_Missense_Mutation_p.R137S|PKD2L2_ENST00000508883.1_Missense_Mutation_p.R137S|PKD2L2_ENST00000502810.1_Missense_Mutation_p.R137S	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	137						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACTAAAAGTCCGCAACAACAC	0.368000													13	110					0.00074312	0.000789648	1	1	0
DNAH3	55567	broad.mit.edu	37	16	21151907	21151907	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:21151907C>T	ENST00000261383.3	-	5	645	c.646G>A	c.(646-648)Gag>Aag	p.E216K	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Missense_Mutation_p.E216K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	216	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATTTCCATCTCCTGCTGTAAC	0.488000													5	159					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61761004	61761004	+	Silent	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:61761004G>T	ENST00000577390.1	-	9	2484	c.1530C>A	c.(1528-1530)ccC>ccA	p.P510P	CDH8_ENST00000584337.1_Silent_p.P510P|CDH8_ENST00000299345.6_Silent_p.P510P|CDH8_ENST00000577730.1_Silent_p.P510P	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	510	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTACTTGGCCGGGTTTTCCAT	0.368000													4	206					0.000602214	0.000643373	1	1	0
GBF1	8729	broad.mit.edu	37	10	104136059	104136059	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:104136059A>G	ENST00000369983.3	+	31	4174	c.3914A>G	c.(3913-3915)tAc>tGc	p.Y1305C		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1305					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTCCCATCCTACCATCAGAAT	0.572000													3	78					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8196639	8196639	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:8196639G>A	ENST00000600128.1	-	15	2203	c.1789C>T	c.(1789-1791)Cag>Tag	p.Q597*	FBN3_ENST00000270509.2_Nonsense_Mutation_p.Q597*|FBN3_ENST00000601739.1_Nonsense_Mutation_p.Q597*			Q75N90	FBN3_HUMAN	fibrillin 3	597	EGF-like 7; 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						CCCAGGCACTGGCAGCGGAAG	0.677000													4	35					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20347978	20347978	+	Silent	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:20347978G>T	ENST00000396134.2	-	10	2034	c.1911C>A	c.(1909-1911)atC>atA	p.I637I	UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Silent_p.I637I|UMOD_ENST00000396138.4_Silent_p.I653I|UMOD_ENST00000570689.1_Silent_p.I604I|UMOD_ENST00000396142.2_Silent_p.I604I|UMOD_ENST00000302509.4_Silent_p.I604I	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	604					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTTTCCGTGTGATGGGACCCA	0.527000													13	96					6.72482e-11	8.13553e-11	1	1	0
RPTOR	57521	broad.mit.edu	37	17	78919498	78919498	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:78919498G>A	ENST00000306801.3	+	26	3419	c.3057G>A	c.(3055-3057)ctG>ctA	p.L1019L	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.L861L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1019					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AAATATTTCTGAACAGGAACC	0.502000													4	133					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76660473	76660473	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:76660473C>A	ENST00000369950.3	-	13	1819	c.1630G>T	c.(1630-1632)Gat>Tat	p.D544Y	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	544					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAGAAATGATCTGGGACAGAA	0.488000													10	83					1.76689e-08	2.08241e-08	1	1	0
OSBP	5007	broad.mit.edu	37	11	59344452	59344452	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:59344452G>A	ENST00000263847.1	-	13	2586	c.2107C>T	c.(2107-2109)Ctc>Ttc	p.L703F		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	703					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CAAGCATTGAGAGTCAGAGCA	0.473000													29	300					0	0	1	0	0
MRPL46	26589	broad.mit.edu	37	15	89008020	89008020	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:89008020T>C	ENST00000312475.4	-	3	544	c.503A>G	c.(502-504)cAg>cGg	p.Q168R	MRPL46_ENST00000559538.1_5'UTR	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	168						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CCAAACATCCTGGTCTCCAAA	0.532000													9	221					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767499	57767499	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr20:57767499G>A	ENST00000371030.2	+	1	1425	c.1425G>A	c.(1423-1425)acG>acA	p.T475T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	475						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCACCTGGACGCCCCCAGACA	0.667000													8	97					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88904619	88904619	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr14:88904619G>A	ENST00000556553.1	+	12	2116	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E	SPATA7_ENST00000356583.5_Silent_p.E519E|SPATA7_ENST00000045347.7_Intron|SPATA7_ENST00000393545.4_Silent_p.E551E			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	551					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AAAAGGTTGAGATTTCAAATG	0.393000													6	168					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167277909	167277909	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:167277909C>G	ENST00000308378.3	-	5	899	c.594G>C	c.(592-594)atG>atC	p.M198I	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.M23I|WDR49_ENST00000453925.2_Missense_Mutation_p.M251I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	198										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATCAAGGGCCATAGTGCTGA	0.468000													42	210					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12186445	12186445	+	Silent	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:12186445T>C	ENST00000439326.3	+	4	685	c.510T>C	c.(508-510)gaT>gaC	p.D170D	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AACTCTATGATTGTAAAGAAT	0.383000													3	63					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71349990	71349990	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:71349990C>T	ENST00000545866.1	-	1	1768	c.1401G>A	c.(1399-1401)ctG>ctA	p.L467L	RGAG4_ENST00000479991.1_Silent_p.L467L|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	467										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CCATCTCCATCAGCTCATCTA	0.562000													5	172					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087176	9087176	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:9087176C>T	ENST00000397910.4	-	1	4842	c.4639G>A	c.(4639-4641)Gtg>Atg	p.V1547M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1547	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTCAATCACACTGGTCCAC	0.483000													66	259					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135863028	135863028	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:135863028T>C	ENST00000250617.6	-	1	1219	c.14A>G	c.(13-15)gAa>gGa	p.E5G		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	5	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CACGATTTGTTCTTCTGGATT	0.468000													4	95					0	0	1	0	0
SCML1	6322	broad.mit.edu	37	X	17768271	17768271	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:17768271C>G	ENST00000380043.3	+	5	808	c.480C>G	c.(478-480)ttC>ttG	p.F160L	SCML1_ENST00000380041.3_Missense_Mutation_p.F187L|SCML1_ENST00000380045.3_Missense_Mutation_p.F66L|SCML1_ENST00000398080.1_Missense_Mutation_p.F66L	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	187					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					CCTCAGATTTCTCTGAGCATA	0.537000													13	264					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20435256	20435256	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:20435256C>T	ENST00000331849.4	+	6	933	c.786C>T	c.(784-786)acC>acT	p.T262T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	262					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGGCCTTGACCGAATCTGACA	0.458000													20	246					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													3	61					0	0	1	0	0
TMEM39A	55254	broad.mit.edu	37	3	119156627	119156627	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:119156627G>T	ENST00000319172.5	-	6	1319	c.899C>A	c.(898-900)gCa>gAa	p.A300E		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	300						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		GGGGAGAAATGCAACATAGTA	0.398000													9	149					6.40141e-05	7.02854e-05	1	1	0
EAPP	55837	broad.mit.edu	37	14	34985659	34985659	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr14:34985659G>A	ENST00000250454.3	-	6	796	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	239				R -> Q (in Ref. 2; AAX63200 and 6; AAH01245).	negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		GCATCTTCCCGGTTAGACCTC	0.443000													12	305					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298867	125298867	+	Silent	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:125298867T>C	ENST00000538699.1	-	2	1121	c.1041A>G	c.(1039-1041)cgA>cgG	p.R347R	DCAF12L2_ENST00000360028.2_Silent_p.R347R	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	347										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGCCACCCTCTCGAGAGCACA	0.622000													5	137					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123256508	123256508	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:123256508T>A	ENST00000451558.1	+	8	772	c.251T>A	c.(250-252)gTt>gAt	p.V84D	ASB15_ENST00000451215.1_Missense_Mutation_p.V84D|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.V84D|ASB15_ENST00000434204.1_Missense_Mutation_p.V84D|ASB15_ENST00000275699.3_Missense_Mutation_p.V84D|RP11-390E23.3_ENST00000418409.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	84					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CATGAAGCTGTTGTTCAACCC	0.358000													11	57					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100496767	100496767	+	Missense_Mutation	SNP	C	C	A	rs141205544		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:100496767C>A	ENST00000395209.3	+	7	1197	c.670C>A	c.(670-672)Cgt>Agt	p.R224S	DRP2_ENST00000541709.1_Missense_Mutation_p.R146S|DRP2_ENST00000538510.1_Missense_Mutation_p.R224S|DRP2_ENST00000402866.1_Missense_Mutation_p.R224S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	224					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGACCAGCACCGTCACATTGA	0.567000													5	79					0.00116845	0.00122842	1	1	0
CCDC91	55297	broad.mit.edu	37	12	28458678	28458678	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:28458678C>T	ENST00000545336.1	+	7	625	c.206C>T	c.(205-207)tCa>tTa	p.S69L	CCDC91_ENST00000381256.1_Missense_Mutation_p.S69L|CCDC91_ENST00000381259.1_Missense_Mutation_p.S69L|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Missense_Mutation_p.S69L|CCDC91_ENST00000306172.5_Missense_Mutation_p.S39L			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	69					protein transport	Golgi apparatus|membrane		p.S69L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GCCATTATTTCATCACCAGAG	0.398000													40	330					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811028	23811028	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:23811028C>T	ENST00000314520.3	+	1	575	c.99C>T	c.(97-99)ccC>ccT	p.P33P	MKRN3_ENST00000568252.1_Silent_p.P33P|MKRN3_ENST00000564592.1_Silent_p.P33P	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	33						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.P33P(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CGGACCTTCCCGTCTGTGAGC	0.682000													4	99					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407933	105407933	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr14:105407933C>T	ENST00000333244.5	-	7	13974	c.13855G>A	c.(13855-13857)Gag>Aag	p.E4619K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4619						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTACATCCTCGTGGGCCAGG	0.547000													11	117					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66463094	66463094	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:66463094C>T	ENST00000359626.5	+	2	211	c.47C>T	c.(46-48)tCa>tTa	p.S16L	TYW1_ENST00000491969.1_3'UTR	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	16					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.S16L(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CCTTTAATATCATTATGGATA	0.353000													8	171					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45950975	45950975	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr21:45950975C>G	ENST00000323084.4	-	4	649	c.584G>C	c.(583-585)gGa>gCa	p.G195A	TSPEAR_ENST00000397916.1_Missense_Mutation_p.G127A	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	195	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GAATCGAGCTCCTTTCACTGA	0.572000													6	91					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4430546	4430546	+	Splice_Site	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:4430546G>A	ENST00000301280.5	+	11	1956	c.1854_splice	c.e11-1	p.D619_splice	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	619	Poly-Asp.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	p.D619Y(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTTTTGAGGATGATGATGA	0.463000								Chromatin Structure					10	85					0	0	1	0	0
MEIOB	254528	broad.mit.edu	37	16	1889352	1889352	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:1889352G>A	ENST00000412554.2	-	12	1316	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	MEIOB_ENST00000452149.2_Silent_p.L374L|MEIOB_ENST00000470044.1_Silent_p.L167L|MEIOB_ENST00000397344.3_Silent_p.L374L|MEIOB_ENST00000325962.3_Silent_p.L374L|FAHD1_ENST00000382666.4_3'UTR|FAHD1_ENST00000382668.4_3'UTR	NM_001163560.2	NP_001157032.1			meiosis specific with OB domains																		CATGGAAACTGAGAAAGACAG	0.423000													9	65					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506630	27506630	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:27506630G>A	ENST00000356183.4	-	15	2549	c.2534C>T	c.(2533-2535)tCc>tTc	p.S845F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.S845F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	845						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACTTCCAGAGGAGGACGGCCG	0.607000													4	64					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37441661	37441661	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:37441661G>T	ENST00000415168.1	+	5	1790	c.1414G>T	c.(1414-1416)Ggg>Tgg	p.G472W	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.G536W|ZNF568_ENST00000455427.2_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAATCAATGTGGGAAAGCTTT	0.363000													4	98					0.00909568	0.00936366	1	1	0
KCNJ3	3760	broad.mit.edu	37	2	155555733	155555733	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:155555733G>C	ENST00000295101.2	+	1	923	c.446G>C	c.(445-447)cGa>cCa	p.R149P	KCNJ3_ENST00000544049.1_Missense_Mutation_p.R149P	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	149					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TATGGCTACCGATACATCACA	0.557000													5	108					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29706522	29706522	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr22:29706522C>G	ENST00000471961.1	+	2	1775	c.727C>G	c.(727-729)Ctc>Gtc	p.L243V	GAS2L1_ENST00000407647.2_Missense_Mutation_p.L243V|GAS2L1_ENST00000360113.2_Missense_Mutation_p.L243V|GAS2L1_ENST00000341313.6_Missense_Mutation_p.L243V|GAS2L1_ENST00000406549.3_Missense_Mutation_p.L243V|GAS2L1_ENST00000403764.1_Missense_Mutation_p.L243V|GAS2L1_ENST00000407854.1_Missense_Mutation_p.L243V			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	243	GAR.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CTCGAGCCTGCTCATCTTTGT	0.682000													4	138					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95183094	95183094	+	Silent	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:95183094T>C	ENST00000027335.3	-	8	1027	c.903A>G	c.(901-903)gaA>gaG	p.E301E	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.E301E	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	301	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATCCTTTTCTTCTCGGTCCA	0.413000													4	156					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6305645	6305645	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:6305645C>G	ENST00000264870.3	-	3	523	c.258G>C	c.(256-258)caG>caC	p.Q86H		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	86					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGAAGTCAATCTGCACATAGA	0.493000													6	137					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134632511	134632511	+	Silent	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:134632511C>G	ENST00000361388.2	+	8	1564	c.1098C>G	c.(1096-1098)ctC>ctG	p.L366L	CALD1_ENST00000422748.1_Silent_p.L366L|CALD1_ENST00000543443.1_Silent_p.L345L|CALD1_ENST00000417172.1_Silent_p.L340L|CALD1_ENST00000361901.2_Silent_p.L340L|CALD1_ENST00000393118.2_Silent_p.L360L|CALD1_ENST00000424922.1_Silent_p.L334L|CALD1_ENST00000495522.1_Silent_p.L360L|CALD1_ENST00000361675.2_Silent_p.L595L	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	595	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						ATCGAAAACTCAGAGAGGAGG	0.542000													3	65					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101476870	101476870	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:101476870G>C	ENST00000341893.3	+	9	2172	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	CEP97_ENST00000327230.4_Missense_Mutation_p.E474Q|CEP97_ENST00000494050.1_Missense_Mutation_p.E415Q			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	474	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						AATCAATACAGAGGTAAATGA	0.408000													4	115					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71610239	71610239	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:71610239C>T	ENST00000355962.4	-	2	213	c.80G>A	c.(79-81)aGa>aAa	p.R27K	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	27					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CACAGAGCTTCTCCCACCAAC	0.537000													5	104					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33234319	33234319	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:33234319G>A	ENST00000401073.2	+	4	599	c.529G>A	c.(529-531)Gag>Aag	p.E177K	KIAA1522_ENST00000373480.1_Missense_Mutation_p.E118K|KIAA1522_ENST00000373481.3_Missense_Mutation_p.E129K|KIAA1522_ENST00000294521.3_Missense_Mutation_p.E118K	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	118										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTACGTGGCTGAGAGCTCCAC	0.602000													11	54					0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97328842	97328842	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:97328842A>G	ENST00000266742.4	+	7	917	c.578A>G	c.(577-579)aAt>aGt	p.N193S	NEDD1_ENST00000557644.1_Missense_Mutation_p.N200S|NEDD1_ENST00000555114.1_3'UTR|NEDD1_ENST00000411739.2_Missense_Mutation_p.N104S|NEDD1_ENST00000429527.2_Missense_Mutation_p.N193S|NEDD1_ENST00000457368.2_Missense_Mutation_p.N104S	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	193					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TGGGATGTAAATAGTCAGAGT	0.403000													15	286					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169519161	169519161	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:169519161C>T	ENST00000367796.3	-	10	1690	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N	F5_ENST00000546081.1_3'UTR|F5_ENST00000367797.3_Missense_Mutation_p.D497N			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	497	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CACTGGGCATCATTTTCTGTG	0.438000													26	213					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136196147	136196147	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:136196147C>A	ENST00000383202.2	-	10	1266	c.1010G>T	c.(1009-1011)tGg>tTg	p.W337L	STAG1_ENST00000236698.5_Missense_Mutation_p.W337L|STAG1_ENST00000434713.2_Missense_Mutation_p.W111L	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	337	SCD.				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						ATGAAGAGTCCAGCCAACATA	0.358000													10	105					9.05144e-12	1.0995e-11	1	1	0
KLHL28	54813	broad.mit.edu	37	14	45398320	45398320	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr14:45398320C>A	ENST00000396128.4	-	5	1746	c.1627G>T	c.(1627-1629)Gtg>Ttg	p.V543L	KLHL28_ENST00000355081.2_Missense_Mutation_p.V557L	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	543										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TATTTCTGCACTGTATTCAGA	0.438000													32	256					2.42023e-17	3.02021e-17	1	1	0
ADD3	120	broad.mit.edu	37	10	111872568	111872568	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:111872568G>C	ENST00000277900.8	+	3	594	c.229G>C	c.(229-231)Gaa>Caa	p.E77Q	ADD3_ENST00000356080.4_Missense_Mutation_p.E77Q|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.E77Q	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	77						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		CCTTATTCAAGAACAGATGAA	0.418000													9	162					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57499219	57499219	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:57499219C>T	ENST00000420954.2	-	7	681	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	DAB1_ENST00000439789.2_Missense_Mutation_p.E132K|DAB1_ENST00000414851.2_Missense_Mutation_p.E216K|DAB1_ENST00000485760.1_Intron|DAB1_ENST00000371234.4_Intron|DAB1_ENST00000371236.2_Intron|DAB1_ENST00000371231.1_Missense_Mutation_p.E251K			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	251					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCAAACCGTTCTTCAAAATCC	0.408000													4	61					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90394627	90394627	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:90394627C>G	ENST00000369393.3	-	71	11912	c.11797G>C	c.(11797-11799)Gaa>Caa	p.E3933Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E3933Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3933					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAACGAAGTTCCACAATTTTG	0.393000													7	75					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33905578	33905578	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:33905578G>A	ENST00000307296.3	+	16	2578	c.2201G>A	c.(2200-2202)gGa>gAa	p.G734E	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.G739E			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	734	Interaction with EIAV p9.|Pro-rich.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						CCAGCAGGAGGACATGCACCA	0.443000													4	78					0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97330537	97330537	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:97330537C>T	ENST00000266742.4	+	8	1207	c.868C>T	c.(868-870)Cac>Tac	p.H290Y	NEDD1_ENST00000557644.1_Missense_Mutation_p.H297Y|NEDD1_ENST00000411739.2_Missense_Mutation_p.H201Y|NEDD1_ENST00000429527.2_Missense_Mutation_p.H290Y|NEDD1_ENST00000457368.2_Missense_Mutation_p.H201Y	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	290					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CATCAGTGCTCACAAGACATC	0.358000													11	165					0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47987338	47987338	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:47987338T>A	ENST00000338134.3	-	1	187	c.80A>T	c.(79-81)aAt>aTt	p.N27I	KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	27					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CCCGTACACATTGCTCTGCGA	0.692000											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	50					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324338	161324338	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:161324338C>A	ENST00000428797.2	+	11	1636	c.1281C>A	c.(1279-1281)ttC>ttA	p.F427L	GABRA1_ENST00000420560.1_Missense_Mutation_p.F427L|GABRA1_ENST00000444819.1_Missense_Mutation_p.F427L|GABRA1_ENST00000023897.6_Missense_Mutation_p.F427L|GABRA1_ENST00000437025.2_Missense_Mutation_p.F427L|GABRA1_ENST00000393943.4_Missense_Mutation_p.F427L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	427					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GAATAGCCTTCCCGCTGCTAT	0.428000													22	202					1.77063e-15	2.1866e-15	1	1	0
ACAN	176	broad.mit.edu	37	15	89401532	89401532	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:89401532G>A	ENST00000439576.2	+	12	6090	c.5716G>A	c.(5716-5718)Gga>Aga	p.G1906R	ACAN_ENST00000561243.1_Missense_Mutation_p.G1906R|ACAN_ENST00000352105.7_Missense_Mutation_p.G1906R|ACAN_ENST00000559004.1_Missense_Mutation_p.G1906R	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1906					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGAGGTCAGTGGAGAATCCTC	0.522000													8	122					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21936684	21936684	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:21936684C>T	ENST00000542643.2	-	15	1230	c.928G>A	c.(928-930)Gcg>Acg	p.A310T	RAP1GAP_ENST00000374761.2_Missense_Mutation_p.A341T|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.A310T|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.A374T|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.A310T	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	310	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AAGTTGGACGCGATCATGTCG	0.627000													5	98					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76430073	76430073	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:76430073G>A	ENST00000388942.3	+	3	340	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	22						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AGGAATTTCTGAAGTTGAGAT	0.483000													8	219					0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	14095538	14095538	+	Splice_Site	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:14095538G>A	ENST00000261643.3	+	6	1005	c.928_splice	c.e6+1	p.G310_splice	COX10_ENST00000536205.1_Splice_Site_p.G118_splice|COX10_ENST00000537334.1_Splice_Site_p.G93_splice	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	310					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCTCGATGCTGGTAAGTGTCC	0.577000													3	128					0	0	1	0	0
GAPT	202309	broad.mit.edu	37	5	57790659	57790659	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:57790659G>T	ENST00000396776.2	+	3	758	c.296G>T	c.(295-297)gGt>gTt	p.G99V	GAPT_ENST00000318469.2_Missense_Mutation_p.G99V	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	99					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GTGGAAGCAGGTCCTCCCAAA	0.413000													8	63					0.000274275	0.000295144	1	1	0
APBB1IP	54518	broad.mit.edu	37	10	26851278	26851278	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:26851278C>A	ENST00000376236.4	+	14	1848	c.1393C>A	c.(1393-1395)Ccc>Acc	p.P465T	APBB1IP_ENST00000493857.1_3'UTR	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	465					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CACCACCCAGCCCAATGGACA	0.463000													40	713					2.43139e-17	3.02777e-17	1	1	0
SUPT3H	8464	broad.mit.edu	37	6	44900419	44900419	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr6:44900419G>A	ENST00000371460.1	-	12	1233	c.916C>T	c.(916-918)Cac>Tac	p.H306Y	SUPT3H_ENST00000371458.1_Missense_Mutation_p.H78Y|SUPT3H_ENST00000371461.2_Missense_Mutation_p.H306Y|SUPT3H_ENST00000371459.1_Missense_Mutation_p.H295Y|SUPT3H_ENST00000306867.5_Missense_Mutation_p.H295Y	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	377				L -> S (in Ref. 4; BAG36602).	histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CCAATCCTGTGGCTGTAGCGT	0.438000													6	89					0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3005721	3005721	+	Silent	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:3005721G>C	ENST00000262953.6	-	16	2008	c.1746C>G	c.(1744-1746)gtC>gtG	p.V582V	TLE2_ENST00000455444.2_Silent_p.V460V|TLE2_ENST00000591529.1_Silent_p.V596V|TLE2_ENST00000447365.2_Silent_p.V249V|TLE2_ENST00000443826.3_Silent_p.V460V|TLE2_ENST00000426948.2_Silent_p.V596V|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Silent_p.V583V	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	582					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCCACCTGACCATAGTCT	0.657000													5	94					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157183425	157183425	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:157183425G>A	ENST00000339562.4	-	6	1528	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V	NR4A2_ENST00000539077.1_Missense_Mutation_p.A400V|NR4A2_ENST00000426264.1_Missense_Mutation_p.A326V|NR4A2_ENST00000409108.2_Missense_Mutation_p.A389V|NR4A2_ENST00000429376.1_Missense_Mutation_p.A326V|NR4A2_ENST00000409572.1_Missense_Mutation_p.A389V	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	389	Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GTCAGGGTTCGCCTGGAACTG	0.453000													7	173					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54020143	54020143	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:54020143C>A	ENST00000338154.6	-	13	2021	c.1517G>T	c.(1516-1518)cGa>cTa	p.R506L	PHF8_ENST00000338946.6_Intron|PHF8_ENST00000357988.5_Missense_Mutation_p.R542L|PHF8_ENST00000322659.8_Missense_Mutation_p.R506L	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	542					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CTTGCCCTTTCGCTCTGCCTT	0.512000													12	126					1.3612e-06	1.54896e-06	1	1	0
NUDC	10726	broad.mit.edu	37	1	27268057	27268057	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:27268057G>C	ENST00000321265.5	+	3	392	c.269G>C	c.(268-270)aGa>aCa	p.R90T		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	90					cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		CGGGCGGCCAGACTGGCCAAG	0.622000													6	27					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329424	152329424	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:152329424A>G	ENST00000388718.5	-	3	910	c.838T>C	c.(838-840)Tgt>Cgt	p.C280R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	280	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTATAACCACATGCATGACTT	0.428000													16	384					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919842	12919842	+	Silent	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:12919842T>C	ENST00000240189.2	+	3	669	c.582T>C	c.(580-582)taT>taC	p.Y194Y		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	194										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAATTAAATATCTCAGAAAGT	0.383000													5	389					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843324	4843324	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:4843324C>T	ENST00000322110.5	+	1	774	c.709C>T	c.(709-711)Cga>Tga	p.R237*	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTGATCATTCGATCTGTCCT	0.493000													6	125					0	0	1	0	0
HOXC9	3225	broad.mit.edu	37	12	54396362	54396362	+	Silent	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:54396362C>G	ENST00000303450.4	+	2	757	c.687C>G	c.(685-687)ctC>ctG	p.L229L	HOXC9_ENST00000508190.1_Silent_p.L229L|HOXC9_ENST00000504557.1_3'UTR	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	229					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CCCGGGTTCTCAATCTCACCG	0.483000													17	102					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705282	30705282	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:30705282T>C	ENST00000256246.2	-	1	1326	c.1252A>G	c.(1252-1254)Aga>Gga	p.R418G		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	418										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATATGTTCTCTAGTTATGCTG	0.348000													9	163					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720004	95720004	+	RNA	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:95720004A>G	ENST00000480546.1	-	0	1293					NR_002319.2																						CATTCAGCATAGAAGCCTGGG	0.463000													4	188					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221195	118221195	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:118221195G>T	ENST00000402510.2	-	11	3997	c.3998C>A	c.(3997-3999)tCt>tAt	p.S1333Y		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1333										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGCTTGGGAAGAATGTTTGGG	0.488000													11	489					3.86212e-05	4.26412e-05	1	1	0
PI4KA	5297	broad.mit.edu	37	22	21073004	21073004	+	Silent	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr22:21073004G>T	ENST00000255882.6	-	44	5309	c.5223C>A	c.(5221-5223)atC>atA	p.I1741I	PI4KA_ENST00000414196.3_Silent_p.I493I|PI4KA_ENST00000572273.1_Silent_p.I1683I	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1683	Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity).				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ACACGTTGGTGATCTTGTTAA	0.517000													6	182					0.0293803	0.0299861	1	1	0
ATL3	25923	broad.mit.edu	37	11	63426328	63426328	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:63426328T>C	ENST00000398868.3	-	3	586	c.310A>G	c.(310-312)Aca>Gca	p.T104A	ATL3_ENST00000332645.4_Missense_Mutation_p.T131A|RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000538786.1_Missense_Mutation_p.T86A	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	104					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						GAAAATCCTGTTAACGGTTCT	0.403000													42	335					0	0	1	0	0
NUDCD3	23386	broad.mit.edu	37	7	44524853	44524853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:44524853G>A	ENST00000355451.6	-	2	502	c.223C>T	c.(223-225)Cag>Tag	p.Q75*		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	75										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						TCATCATCCTGACGGGCCATG	0.448000													4	96					0	0	1	0	0
DUSP10	11221	broad.mit.edu	37	1	221913080	221913080	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:221913080G>A	ENST00000366899.3	-	2	245	c.7C>T	c.(7-9)Ccg>Tcg	p.P3S	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	3					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		AAAGGAGACGGAGGCATGAGG	0.473000													7	93					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67800212	67800212	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr13:67800212C>T	ENST00000544246.1	-	2	3052	c.2361G>A	c.(2359-2361)ttG>ttA	p.L787L	PCDH9_ENST00000377861.3_Silent_p.L787L|PCDH9_ENST00000377865.2_Silent_p.L787L|PCDH9_ENST00000328454.5_Silent_p.L787L|PCDH9_ENST00000456367.1_Silent_p.L787L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	787					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCCTGCGGATCAAGTCATAGA	0.458000													7	179					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109382286	109382286	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:109382286C>T	ENST00000283195.6	+	20	5417	c.5291C>T	c.(5290-5292)tCt>tTt	p.S1764F		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1764					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						ACACCTGCCTCTTCGGAGATA	0.408000													6	141					0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19458139	19458139	+	Silent	SNP	T	T	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:19458139T>C	ENST00000392313.5	+	13	1318	c.1272T>C	c.(1270-1272)agT>agC	p.S424S	MAU2_ENST00000262815.8_Silent_p.S424S	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	424					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						ACCTGGCGAGTGTGTATATAC	0.547000													20	138					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135106934	135106934	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:135106934C>G	ENST00000428680.2	-	3	622	c.343G>C	c.(343-345)Ggt>Cgt	p.G115R	CNOT4_ENST00000414802.1_Missense_Mutation_p.G115R|CNOT4_ENST00000423368.2_Missense_Mutation_p.G115R|CNOT4_ENST00000361528.4_Missense_Mutation_p.G115R|CNOT4_ENST00000541284.1_Missense_Mutation_p.G115R|CNOT4_ENST00000315544.5_Missense_Mutation_p.G115R|CNOT4_ENST00000451834.1_Missense_Mutation_p.G115R|CNOT4_ENST00000356162.4_Missense_Mutation_p.G115R	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	115	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TGAGATAAACCTACAACAAAG	0.348000													7	95					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9498752	9498752	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr20:9498752G>C	ENST00000246070.2	+	5	1033	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	LAMP5_ENST00000427562.2_Missense_Mutation_p.E137Q	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	181						integral to membrane											GAAGTCCTATGAGTGTCAAGC	0.527000													5	169					0	0	1	0	0
TUBB3	10381	broad.mit.edu	37	16	90001986	90001986	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:90001986A>G	ENST00000304984.5	+	3	3206	c.911A>G	c.(910-912)gAg>gGg	p.E304G	TUBB3_ENST00000315491.7_Missense_Mutation_p.E376G|TUBB3_ENST00000556922.1_Missense_Mutation_p.E723G|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Missense_Mutation_p.E304G			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	376					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCCATCCAGGAGCTGTTCAAG	0.622000													5	362					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181680125	181680125	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:181680125G>A	ENST00000526775.1	+	8	1256	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R364Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R364Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R364Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R315Q|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R315Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	364					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTGGAGAACCGAAGGGCTTTC	0.537000													18	163					0	0	1	0	0
FAM127B	26071	broad.mit.edu	37	X	134186109	134186109	+	Silent	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:134186109G>T	ENST00000370775.2	-	1	96	c.30C>A	c.(28-30)gcC>gcA	p.A10A	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	10										breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					CGGCCAGGAGGGCCTTCATCA	0.701000													11	140					7.03913e-09	8.34579e-09	1	1	0
PLD1	5337	broad.mit.edu	37	3	171330202	171330202	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:171330202G>A	ENST00000356327.5	-	24	2705	c.2635C>T	c.(2635-2637)Cgc>Tgc	p.R879C	PLD1_ENST00000351298.4_Missense_Mutation_p.R917C|PLD1_ENST00000340989.4_Missense_Mutation_p.R917C|PLD1_ENST00000342215.6_3'UTR	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	917	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGCATGCTGCGGTCATTTATG	0.493000													14	162					0	0	1	0	0
WFDC12	128488	broad.mit.edu	37	20	43752760	43752760	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr20:43752760C>T	ENST00000372785.3	-	2	243	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_080869.1	NP_543145.1	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12	76					defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				TCTTCCAGTTCCTTCACAGGA	0.542000													6	79					0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103921999	103921999	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:103921999C>T	ENST00000405356.1	+	13	2338	c.2103C>T	c.(2101-2103)gtC>gtT	p.V701V	NOLC1_ENST00000477977.1_Intron|NOLC1_ENST00000488254.2_Silent_p.V692V|NOLC1_ENST00000605788.1_Silent_p.V691V|NOLC1_ENST00000603742.1_Silent_p.V410V			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	691					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CTGTCCAGGTCAATTCTATTA	0.507000													33	442					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19503101	19503101	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:19503101C>A	ENST00000511273.1	-	10	2007	c.1630G>T	c.(1630-1632)Ggt>Tgt	p.G544C	CDH18_ENST00000507958.1_Splice_Site_p.D544_splice|CDH18_ENST00000502796.1_Splice_Site_p.A544_splice|CDH18_ENST00000382275.1_Splice_Site_p.D544_splice|CDH18_ENST00000506372.1_Splice_Site_p.A544_splice|CDH18_ENST00000274170.4_Splice_Site_p.D544_splice			Q13634	CAD18_HUMAN	cadherin 18, type 2	0	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATATGTTCACCTTCATTGTCC	0.348000													9	110					6.40141e-05	7.02854e-05	1	1	0
MED12	9968	broad.mit.edu	37	X	70357730	70357730	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:70357730G>T	ENST00000333646.6	+	41	6189	c.5990G>T	c.(5989-5991)cGg>cTg	p.R1997L	MED12_ENST00000374080.3_Missense_Mutation_p.R1994L|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Missense_Mutation_p.R1993L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1994	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTGCAACAGCGGCCCAGTGGC	0.577000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						21	164					6.32553e-13	7.69952e-13	1	1	0
QSOX1	5768	broad.mit.edu	37	1	180158752	180158752	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:180158752G>C	ENST00000367602.3	+	9	1157	c.1083G>C	c.(1081-1083)caG>caC	p.Q361H	QSOX1_ENST00000367600.5_Missense_Mutation_p.Q361H			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	361					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCAAGAGGCAGAAGAGAAATA	0.483000													4	193					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132416116	132416116	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:132416116C>T	ENST00000326682.8	-	14	2152	c.2076G>A	c.(2074-2076)ttG>ttA	p.L692L	NPHP3_ENST00000337331.5_Silent_p.L692L			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	692					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	p.L692F(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTCTTTACTCAATTTAATGT	0.333000													13	241					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18662353	18662353	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:18662353C>T	ENST00000440756.2	-	5	1792	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	PSD3_ENST00000523619.1_Missense_Mutation_p.E499K|PSD3_ENST00000286485.8_Missense_Mutation_p.E30K|PSD3_ENST00000327040.8_Missense_Mutation_p.E564K			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	564	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCCAAAATTTCAGTGCTCCCC	0.408000													13	230					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322314	55322314	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:55322314G>T	ENST00000314644.2	+	1	532	c.532G>T	c.(532-534)Gcc>Tcc	p.A178S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCGTTATGTGGCCATTTGCAA	0.507000										HNSCC(20;0.049)			9	120					3.86212e-05	4.26412e-05	1	1	0
ZNF557	79230	broad.mit.edu	37	19	7075717	7075717	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:7075717G>T	ENST00000414706.1	+	4	556	c.83G>T	c.(82-84)gGa>gTa	p.G28V	ZNF557_ENST00000439035.2_Missense_Mutation_p.G21V|ZNF557_ENST00000252840.6_Missense_Mutation_p.G28V	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		ACAGAGGGCGGAGAGCTGGTT	0.522000													6	193					0.000274275	0.000295144	1	1	0
STX19	415117	broad.mit.edu	37	3	93733597	93733597	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:93733597C>T	ENST00000315099.2	-	2	773	c.517G>A	c.(517-519)Gct>Act	p.A173T	ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000539730.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	173					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TCTTTTCCAGCAACTTCAAGC	0.333000													5	154					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161580356	161580356	+	Silent	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:161580356C>G	ENST00000356592.3	+	10	1870	c.1410C>G	c.(1408-1410)gtC>gtG	p.V470V	GABRG2_ENST00000393933.4_Silent_p.V367V|GABRG2_ENST00000414552.2_Silent_p.V510V|GABRG2_ENST00000361925.4_Silent_p.V462V	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	462					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TCTATTGGGTCTCCTACCTCT	0.453000													28	325					0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107379942	107379942	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr9:107379942G>C	ENST00000259362.1	-	1	543	c.544C>G	c.(544-546)Cta>Gta	p.L182V		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ATGACAGCTAGAATTTCACAT	0.423000													9	191					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2088663	2088663	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:2088663C>G	ENST00000262113.4	+	33	3959	c.3818C>G	c.(3817-3819)tCc>tGc	p.S1273C	MYOM2_ENST00000523438.1_Missense_Mutation_p.S698C	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1273					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGATCTCATCCAGTGAGCAT	0.463000													6	127					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	730149	730149	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr9:730149G>A	ENST00000382303.1	+	8	3449	c.2797G>A	c.(2797-2799)Gaa>Aaa	p.E933K	KANK1_ENST00000382297.2_Missense_Mutation_p.E933K|KANK1_ENST00000382293.3_Missense_Mutation_p.E775K|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	933					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GGGGACCTCAGAAGGAAAGCC	0.552000													10	89					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20635538	20635538	+	Splice_Site	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:20635538C>T	ENST00000219151.4	-	13	1691		c.e13-1		ACSM1_ENST00000520010.1_Splice_Site|ACSM1_ENST00000307493.4_Splice_Site			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1						benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCTTCACCACCTGCAGAATGA	0.478000													14	129					0	0	1	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32502512	32502512	+	Splice_Site	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:32502512A>G	ENST00000327300.7	+	5	940	c.771_splice	c.e5-1	p.D258_splice	KHDRBS1_ENST00000492989.1_Splice_Site_p.D219_splice|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	258					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CGTTCCCAGGATATGATGGAT	0.473000													4	278					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184633201	184633201	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:184633201A>G	ENST00000287546.4	+	27	2492	c.2321A>G	c.(2320-2322)tAt>tGt	p.Y774C	VPS8_ENST00000437079.3_Missense_Mutation_p.Y774C|VPS8_ENST00000446204.2_Missense_Mutation_p.Y682C|VPS8_ENST00000436792.2_Missense_Mutation_p.Y772C	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	774							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GAAGAAATCTATCCTTACATT	0.358000													12	91					0	0	1	0	0
ATG7	10533	broad.mit.edu	37	3	11350491	11350491	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:11350491G>C	ENST00000354449.3	+	5	392	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q	ATG7_ENST00000446450.2_Missense_Mutation_p.E123Q|ATG7_ENST00000354956.5_Missense_Mutation_p.E123Q	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	123					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CACTGCTCTTGAAAACCCTGT	0.473000													14	335					0	0	1	0	0
ARRDC3	57561	broad.mit.edu	37	5	90669589	90669589	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr5:90669589G>A	ENST00000265138.3	-	7	1366	c.1100C>T	c.(1099-1101)gCt>gTt	p.A367V		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	367					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GTCATCACAAGCACTCACTGG	0.463000													28	166					0	0	1	0	0
HSDL1	83693	broad.mit.edu	37	16	84163168	84163168	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:84163168C>A	ENST00000219439.4	-	5	1055	c.879G>T	c.(877-879)tgG>tgT	p.W293C	HSDL1_ENST00000434463.3_Missense_Mutation_p.W238C	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	293						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						TAGAATGGGACCAATATCCTG	0.423000													3	83					0.150653	0.151932	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56539823	56539823	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:56539823G>C	ENST00000390649.3	+	7	2224	c.2224G>C	c.(2224-2226)Ggg>Cgg	p.G742R		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	742						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGATGTCAAAGGGATCTTCCC	0.517000													58	345					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19974937	19974937	+	Missense_Mutation	SNP	C	C	A	rs142191021		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:19974937C>A	ENST00000295824.9	-	1	735	c.574G>T	c.(574-576)Gtg>Ttg	p.V192L	EFHB_ENST00000344838.4_Missense_Mutation_p.V62L|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	192					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CCAATGTCCACCTCCACAGGA	0.483000													19	104					5.35267e-07	6.14987e-07	1	1	0
CNGB1	1258	broad.mit.edu	37	16	57935286	57935286	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:57935286G>A	ENST00000564448.1	-	29	2988	c.2928C>T	c.(2926-2928)gtC>gtT	p.V976V	CNGB1_ENST00000251102.8_Silent_p.V982V			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	982					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGGGCAGGTAGACAACAGAGC	0.552000													14	292					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298753	125298753	+	Silent	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chrX:125298753C>T	ENST00000538699.1	-	2	1235	c.1155G>A	c.(1153-1155)gaG>gaA	p.E385E	DCAF12L2_ENST00000360028.2_Silent_p.E385E	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	385										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AAGAGGCCCTCTCCTCCAGGA	0.627000													12	200					0	0	1	0	0
C11orf65	160140	broad.mit.edu	37	11	108263936	108263936	+	Splice_Site	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:108263936C>A	ENST00000525729.1	-	5	652	c.584_splice	c.e5+1	p.E195_splice	C11orf65_ENST00000393084.1_Splice_Site_p.E244_splice|C11orf65_ENST00000529391.1_Splice_Site_p.E244_splice|C11orf65_ENST00000526725.1_5'UTR			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	244										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TGTACTTACTCATCAAAGTTC	0.408000													6	256					0.00307968	0.00320935	1	1	0
ATIC	471	broad.mit.edu	37	2	216191701	216191701	+	Splice_Site	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:216191701G>A	ENST00000435675.1	+	6	1076	c.685_splice	c.e6+1	p.V229_splice	ATIC_ENST00000236959.9_Splice_Site_p.V230_splice|ATIC_ENST00000540518.1_Splice_Site_p.V171_splice			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	230					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	TCCCATCACAGGTAAAGCCCG	0.498000			T	ALK	ALCL								19	202					0	0	1	0	0
ACAD11	84129	broad.mit.edu	37	3	132360854	132360854	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:132360854C>T	ENST00000264990.6	-	4	1470	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Missense_Mutation_p.E167K|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000481970.2_Missense_Mutation_p.E167K	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CCATATCCTTCCAGCTGCAGT	0.398000													23	312					0	0	1	0	0
WBP1L	54838	broad.mit.edu	37	10	104572969	104572969	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:104572969G>A	ENST00000369889.4	+	4	1052	c.910G>A	c.(910-912)Gag>Aag	p.E304K	WBP1L_ENST00000448841.1_Missense_Mutation_p.E325K	NM_017787.4	NP_060257.4	Q9NX94	OPA1L_HUMAN	WW domain binding protein 1-like	304						integral to membrane											TCAGTCCTCTGAGGAGCAGGC	0.642000													5	105					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241845	87241845	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:87241845C>A	ENST00000297524.3	-	1	765	c.662G>T	c.(661-663)gGg>gTg	p.G221V	SLC7A13_ENST00000419776.2_Intron|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	221						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AAAGCATGCCCCGCCTGAATA	0.348000													19	233					1.64293e-13	2.00803e-13	1	1	0
ITGB1	3688	broad.mit.edu	37	10	33211645	33211645	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:33211645G>A	ENST00000396033.2	-	8	1096	c.961C>T	c.(961-963)Cac>Tac	p.H321Y	ITGB1_ENST00000423113.1_Missense_Mutation_p.H321Y|ITGB1_ENST00000374956.4_Missense_Mutation_p.H321Y|ITGB1_ENST00000302278.3_Missense_Mutation_p.H321Y	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	321	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TGGACAAGGTGAGCAATAGAA	0.284000													5	86					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77984537	77984537	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:77984537C>T	ENST00000310924.2	-	3	316	c.201G>A	c.(199-201)atG>atA	p.M67I		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	67						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CATCCTTCTCCATGTACAAGC	0.612000													4	18					0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	55980381	55980381	+	Missense_Mutation	SNP	G	G	C	rs140984938		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:55980381G>C	ENST00000429591.2	+	1	51	c.13G>C	c.(13-15)Gaa>Caa	p.E5Q	ZNF713_ENST00000482436.1_3'UTR|MRPS17_ENST00000426595.1_Missense_Mutation_p.E5Q	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	5	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGAGGAGGAAGAAATGAATGA	0.403000													4	42					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6912905	6912905	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:6912905T>G	ENST00000299459.2	-	1	925	c.827A>C	c.(826-828)tAt>tCt	p.Y276S		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACTATTGCATAGAAAACAGA	0.433000													7	78					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39086247	39086247	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:39086247T>G	ENST00000209718.3	-	4	1005	c.581A>C	c.(580-582)cAg>cCg	p.Q194P	KRT23_ENST00000436344.3_Missense_Mutation_p.Q57P|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	194	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TTCCACCTCCTGTTCTAGGTC	0.463000													7	226					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42390887	42390887	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr13:42390887G>C	ENST00000379310.3	-	16	1962	c.1894C>G	c.(1894-1896)Ctg>Gtg	p.L632V	VWA8_ENST00000281496.6_Missense_Mutation_p.L632V	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		AACTTATCCAGAGCTTCCTGA	0.373000													6	138					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50750868	50750868	+	Silent	SNP	G	G	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:50750868G>A	ENST00000300589.2	+	6	2718	c.2613G>A	c.(2611-2613)caG>caA	p.Q871Q		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	871					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CATGCAGGCAGAACTTCTTGG	0.488000													8	207					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197184551	197184551	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:197184551C>T	ENST00000260983.2	-	9	1245	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	355					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGCATGTCCTCGTCATCGGAA	0.512000													15	116					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786015	112786015	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:112786015A>C	ENST00000295408.4	+	19	2831	c.2574A>C	c.(2572-2574)ttA>ttC	p.L858F	MERTK_ENST00000409780.1_Missense_Mutation_p.L682F|MERTK_ENST00000421804.2_Missense_Mutation_p.L858F			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	858	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AAAAACTCTTAGAAAGTTTGC	0.483000													14	131					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16740806	16740806	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:16740806C>G	ENST00000381323.3	-	10	979	c.759G>C	c.(757-759)atG>atC	p.M253I	FAM49A_ENST00000406434.1_Missense_Mutation_p.M253I|FAM49A_ENST00000355549.2_Missense_Mutation_p.M253I	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	253						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CCATCACCCTCATGCAGAACA	0.478000													4	156					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15851751	15851751	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:15851751C>T	ENST00000338282.6	-	13	1614	c.1508G>A	c.(1507-1509)gGc>gAc	p.G503D	MYH11_ENST00000452625.2_Missense_Mutation_p.G510D|MYH11_ENST00000396324.3_Missense_Mutation_p.G510D|MYH11_ENST00000300036.5_Missense_Mutation_p.G503D|MYH11_ENST00000576790.1_Missense_Mutation_p.G503D	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	503	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCACTCGATGCCCTCGCGCTG	0.602000			T	CBFB	AML								4	151					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469).		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393000													5	158					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52566169	52566169	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr12:52566169C>G	ENST00000313234.5	-	7	1088	c.991G>C	c.(991-993)Gag>Cag	p.E331Q	KRT80_ENST00000394815.2_Missense_Mutation_p.E331Q	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	331	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CCCTGCTCCTCAGCTGTCTTG	0.652000													3	111					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7907385	7907385	+	Missense_Mutation	SNP	C	C	T	rs61749674		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:7907385C>T	ENST00000254854.4	+	3	1087	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	313					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CACCCTCACGCGCCACTGTCC	0.677000													17	103					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120767273	120767273	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr7:120767273G>C	ENST00000310396.5	+	10	1731	c.1264G>C	c.(1264-1266)Gag>Cag	p.E422Q	CPED1_ENST00000423795.1_Missense_Mutation_p.E202Q|CPED1_ENST00000450913.2_Missense_Mutation_p.E422Q	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CATATTTTCTGAGATATTTCA	0.299000													9	119					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	905764	905764	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:905764delG	ENST00000379409.2	+	3	321	c.291delG	c.(289-291)gtfs	p.V97fs	PLEKHN1_ENST00000379407.2_Frame_Shift_Del_p.V97fs|PLEKHN1_ENST00000379410.3_Frame_Shift_Del_p.V97fs			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	97	PH 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GAAAAGTTGTGCATTACGCCA	0.627													15	138	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27088681	27088682	+	Frame_Shift_Ins	INS	-	-	C	rs147650363		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:27088681_27088682insC	ENST00000324856.7	+	7	2661_2662	c.2290_2291insC	c.(2290-2292)cccfs	p.P764fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.P764fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.P381fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	764					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q766fs*67(1)|p.Q766fs*51(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGTACAGTTCCCCCCAGCCC	0.520			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								42	267	---	---	---	---					
SYCP1	6847	broad.mit.edu	37	1	115537600	115537601	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:115537600_115537601insA	ENST00000369522.3	+	32	3131_3132	c.2891_2892insA	c.(2890-2892)aaafs	p.K964fs	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K964fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	964	Arg/Lys-rich (basic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAATGGATAGAAAAAAAAAAC	0.356													12	93	---	---	---	---					
DISC1	27185	broad.mit.edu	37	1	231885769	231885769	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr1:231885769delG	ENST00000439617.2	+	4	1268	c.1215delG	c.(1213-1215)ctfs	p.L405fs	TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000366636.4_Frame_Shift_Del_p.L405fs|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Frame_Shift_Del_p.L405fs|DISC1_ENST00000535983.1_Frame_Shift_Del_p.L405fs|DISC1_ENST00000539444.1_Frame_Shift_Del_p.L405fs|DISC1_ENST00000602873.1_Frame_Shift_Del_p.L55fs|DISC1_ENST00000537876.1_Frame_Shift_Del_p.L405fs|DISC1_ENST00000602281.1_Frame_Shift_Del_p.L405fs	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	405	Interaction with TRAF3IP1.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCAGTTTCCTGGGTCACCTGG	0.502													12	147	---	---	---	---					
REV1	51455	broad.mit.edu	37	2	100055102	100055102	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr2:100055102delT	ENST00000258428.3	-	6	1402	c.1174delA	c.(1174-1176)tgfs	p.M392fs	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Frame_Shift_Del_p.M392fs	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	392					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTGTTTTCATTTTTTTTAAC	0.348								Direct reversal of damage					8	251	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)del	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502													7	72	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													6	12	---	---	---	---					
RNF168	165918	broad.mit.edu	37	3	196198971	196198971	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr3:196198971delT	ENST00000318037.3	-	6	2029	c.1435delA	c.(1435-1437)cafs	p.T479fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	479					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GGGGAGGATGTAGCGCGTAAG	0.468													35	522	---	---	---	---					
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaa>a	p.KE506del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	506					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.360			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				8	104	---	---	---	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)gtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													10	306	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594													10	124	---	---	---	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1																						AAGCAAATGTAAAAAAAAAAA	0.388													6	8	---	---	---	---					
DDI1	414301	broad.mit.edu	37	11	103907614	103907614	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:103907614delA	ENST00000302259.3	+	1	307	c.64delA	c.(64-66)gcfs	p.S22fs	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	22	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCTCCAGGTCAGCCCCGACTT	0.627													38	356	---	---	---	---					
ADAMTS15	170689	broad.mit.edu	37	11	130331386	130331386	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr11:130331386delC	ENST00000299164.2	+	2	960	c.960delC	c.(958-960)gafs	p.D320fs		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	320	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCCGGCAGGACCTGTGTGGAG	0.567													9	202	---	---	---	---					
SERPINA13P	388007	broad.mit.edu	37	14	95107502	95107502	+	RNA	DEL	C	C	-			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr14:95107502delC	ENST00000469935.1	+	0	242					NR_015340.1																						GGGAAGGGAGCCCCCAGGAGA	0.562													2	4	---	---	---	---					
POLG	5428	broad.mit.edu	37	15	89876718	89876718	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr15:89876718delG	ENST00000268124.5	-	2	601	c.268delC	c.(268-270)aafs	p.Q90fs	POLG_ENST00000442287.2_Frame_Shift_Del_p.Q90fs	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	90					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TCCCCTCCTTGCCCGAAGATT	0.677								DNA polymerases (catalytic subunits)					8	123	---	---	---	---					
ACSM5	54988	broad.mit.edu	37	16	20442374	20442374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr16:20442374delG	ENST00000331849.4	+	9	1332	c.1185delG	c.(1183-1185)gcfs	p.A395fs		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	395					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGGGGAAGGCGTCCCCACCCT	0.552													19	414	---	---	---	---					
ITGB4	3691	broad.mit.edu	37	17	73732157	73732158	+	Frame_Shift_Del	DEL	GT	GT	-	rs121912463		TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr17:73732157_73732158delGT	ENST00000200181.3	+	14	1870_1871	c.1683_1684delGT	c.(1681-1686)cagtfs	p.QC561fs	ITGB4_ENST00000579662.1_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000450894.3_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000339591.3_Frame_Shift_Del_p.QC561fs	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	561	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCATGGGCCAGTGTGTGTGTGA	0.604													12	505	---	---	---	---					
MBD1	4152	broad.mit.edu	37	18	47803280	47803284	+	Frame_Shift_Del	DEL	CCACT	CCACT	-			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr18:47803280_47803284delCCACT	ENST00000591416.1	-	4	741_745	c.310_314delAGTGG	c.(310-315)tfs	p.SG104fs	MBD1_ENST00000349085.2_Frame_Shift_Del_p.SG104fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.SG130fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.SG104fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.SG104fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.SG104fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.SG104fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.SG104fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.SG104fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.SG104fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.SG104fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.SG104fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.SG104fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.SG104fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.SG104fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.SG104fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.SG104fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.SG104fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.SG104fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.SG104fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	104					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CCTGACCTCACCACTCTGGGGTCCA	0.585													10	252	---	---	---	---					
SLC32A1	140679	broad.mit.edu	37	20	37353396	37353396	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8208-01A-11D-2238-08	TCGA-55-8208-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4e9047-3b2c-4514-8c05-bc7d5a909d48	fcec4c3a-abde-45e6-aacf-dbcb6e701601	g.chr20:37353396delC	ENST00000217420.1	+	1	292	c.29delC	c.(28-30)tcfs	p.S10fs		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	10					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGCAAGCTGTCCAACGTGGCC	0.652													16	107	---	---	---	---