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
FAM86DP	692099	broad.mit.edu	37	3	75475670	75475670	+	RNA	SNP	A	A	C	rs7430363	by1000genomes	TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:75475670A>C	ENST00000459803.1	-	0	859					NR_024241.1																						ACCTCAGGAGACTGCTGGTGC	0.627000													4	40					0	0	1	0	0
SPRY2	10253	broad.mit.edu	37	13	80911680	80911680	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr13:80911680T>A	ENST00000377102.1	-	2	1138	c.161A>T	c.(160-162)gAg>gTg	p.E54V	SPRY2_ENST00000377104.3_Missense_Mutation_p.E54V|SPRY2_ENST00000540649.1_Missense_Mutation_p.E54V			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	54					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CTCTGTGTACTCATTGGTGTT	0.607000													21	85					0	0	1	0	0
TMIE	259236	broad.mit.edu	37	3	46750655	46750655	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:46750655G>A	ENST00000326431.3	+	3	406	c.251G>A	c.(250-252)cGg>cAg	p.R84Q		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	84			R -> W (in DFNB6; dbSNP:rs28942097).			integral to membrane				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CGTGTGCCACGGACCCGGAAG	0.577000													10	41					0	0	1	0	0
THUMPD3	25917	broad.mit.edu	37	3	9425959	9425959	+	Silent	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:9425959C>T	ENST00000345094.3	+	9	1633	c.1299C>T	c.(1297-1299)gtC>gtT	p.V433V	THUMPD3_ENST00000452837.2_Silent_p.V433V|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Silent_p.V433V	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	433							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TGAGCCGTGTCTGCACACCTA	0.463000													46	169					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99673256	99673256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr15:99673256G>A	ENST00000336292.6	+	5	4808	c.4688G>A	c.(4687-4689)tGg>tAg	p.W1563*	SYNM_ENST00000328642.7_Nonsense_Mutation_p.W1251*|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Nonsense_Mutation_p.W966*	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1564	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GATGGGCATTGGTTTTAATAA	0.443000													4	26					0	0	1	0	0
NPIPB11	728888	broad.mit.edu	37	16	29415043	29415043	+	Silent	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr16:29415043G>A	ENST00000524087.1	-	2	155	c.81C>T	c.(79-81)caC>caT	p.H27H	SNX29P2_ENST00000398878.3_lincRNA					nuclear pore complex interacting protein family, member B11									p.H27H(24)									CTGACTTTACGTGCTGCTGCA	0.577000													3	17					0	0	1	0	0
MYEF2	50804	broad.mit.edu	37	15	48451810	48451810	+	Splice_Site	SNP	A	A	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr15:48451810A>G	ENST00000324324.7	-	6	996	c.717_splice	c.e6+1	p.N239_splice	MYEF2_ENST00000267836.6_Splice_Site_p.N239_splice	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	239	RRM 2.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTGAACTTACATTGGCAACAA	0.318000													8	63					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85774569	85774569	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr8:85774569G>A	ENST00000521268.1	+	6	1557	c.452G>A	c.(451-453)cGt>cAt	p.R151H	RALYL_ENST00000521376.1_Missense_Mutation_p.R62H|RALYL_ENST00000518566.1_Missense_Mutation_p.R140H|RALYL_ENST00000523850.1_Missense_Mutation_p.R78H|RALYL_ENST00000517638.1_Missense_Mutation_p.R164H|RALYL_ENST00000521695.1_Missense_Mutation_p.R151H|RALYL_ENST00000522455.1_Missense_Mutation_p.R151H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	151							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCACCTCCCCGTGCAGTAATT	0.498000													5	20					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247492824	247492824	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr1:247492824C>G	ENST00000294753.4	-	3	521	c.57G>C	c.(55-57)agG>agC	p.R19S	ZNF496_ENST00000366498.2_Missense_Mutation_p.R19S	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	19					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TCCTCATTTTCCTGGGCTCCT	0.622000													18	93					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85674264	85674264	+	Splice_Site	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr12:85674264C>T	ENST00000316824.3	+	1	380	c.226_splice	c.e1+1	p.S75_splice		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	75					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		AGGACAGCAGCGGTGAGTCGC	0.647000													4	33					0	0	1	0	0
PHF11	51131	broad.mit.edu	37	13	50092163	50092163	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr13:50092163T>C	ENST00000357596.3	+	5	493	c.217T>C	c.(217-219)Ttt>Ctt	p.F73L	PHF11_ENST00000378319.3_Missense_Mutation_p.F112L|PHF11_ENST00000488958.1_Missense_Mutation_p.F73L	NM_001040444.1	NP_001035534.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		GAAATGCAAATTTTGTCATAA	0.333000													7	27					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31195651	31195651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr16:31195651C>T	ENST00000254108.7	+	5	562	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	FUS_ENST00000568685.1_Nonsense_Mutation_p.Q153*|FUS_ENST00000380244.3_Nonsense_Mutation_p.Q152*	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	153	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	p.Q153*(1)	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TAATCCCCCTCAGGGCTATGG	0.562000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								9	96					0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120921	46120921	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr1:46120921C>T	ENST00000355105.3	-	5	1491	c.131G>A	c.(130-132)cGc>cAc	p.R44H	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.R44H	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					ATGTCGACGGCGGCTTACTCC	0.458000													13	134					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76640701	76640701	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr6:76640701C>G	ENST00000369950.3	-	15	2401	c.2212G>C	c.(2212-2214)Gag>Cag	p.E738Q	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	738					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)				TGGAGGACCTCGCATTCCTTT	0.547000													13	57					0	0	1	0	0
CCDC86	79080	broad.mit.edu	37	11	60610106	60610106	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr11:60610106C>T	ENST00000227520.5	+	1	563	c.509C>T	c.(508-510)cCc>cTc	p.P170L	RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	170	Pro-rich.				interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CAGCAAGCTCCCGGTCCGGAG	0.682000													10	39					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77748593	77748593	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr13:77748593T>A	ENST00000407578.2	-	37	5770	c.5504A>T	c.(5503-5505)aAc>aTc	p.N1835I	MYCBP2_ENST00000357337.6_Missense_Mutation_p.N1797I|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N1797I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTTCCATAGTTCCTCAAGCG	0.403000													8	43					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43172776	43172776	+	Missense_Mutation	SNP	C	C	T	rs139277408		TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr6:43172776C>T	ENST00000252050.4	+	23	4639	c.4555C>T	c.(4555-4557)Cgg>Tgg	p.R1519W	CUL9_ENST00000372647.2_Missense_Mutation_p.R1519W|CUL9_ENST00000354495.3_Missense_Mutation_p.R1409W	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1519					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GTTTGGGCCTCGGGCAGCCTT	0.602000													13	82					0	0	1	0	0
PPAT	5471	broad.mit.edu	37	4	57265456	57265456	+	Silent	SNP	T	T	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr4:57265456T>C	ENST00000264220.2	-	9	1262	c.1125A>G	c.(1123-1125)gtA>gtG	p.V375V		NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	375					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	TGTCTGACAATACTCCAAATT	0.373000													11	92					0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54675803	54675803	+	Splice_Site	SNP	A	A	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr1:54675803A>G	ENST00000605337.1	+	4	879	c.832_splice	c.e4+1	p.T277_splice	MRPL37_ENST00000360840.5_Splice_Site_p.T277_splice|MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000336230.6_Splice_Site_p.T146_splice			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	277					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						AAAATGACACAGGTAAGGATC	0.403000													38	60					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19468230	19468230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr16:19468230C>T	ENST00000219821.5	+	1	459	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	TMC5_ENST00000561503.1_Intron|TMC5_ENST00000564959.1_Intron|TMC5_ENST00000542583.2_Intron|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000396229.2_Intron|TMC5_ENST00000381414.4_Intron	NM_024780.4	NP_079056.2	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	0						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAAGGGTAACCAGGTGCTGCG	0.443000													10	53					0	0	1	0	0
RGS7BP	401190	broad.mit.edu	37	5	63871726	63871726	+	Missense_Mutation	SNP	G	G	A	rs151111266		TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr5:63871726G>A	ENST00000334025.2	+	3	784	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	153					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CAGTTTCATCGAAAAGGTATC	0.398000													16	59					0	0	1	0	0
CXCL10	3627	broad.mit.edu	37	4	76943519	76943519	+	Splice_Site	SNP	C	C	T	rs1126857		TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr4:76943519C>T	ENST00000306602.1	-	3	343	c.278_splice	c.e3+1	p.R93_splice	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	93				R -> M (in Ref. 1; CAA26370).	blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCAAACCTACCTTTCCTTGCT	0.418000													11	63					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81762901	81762901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr12:81762901C>A	ENST00000550584.2	-	11	1634	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E429*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E447*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E294*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.E447*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E447*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E373*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.E14*|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E429*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E348*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	373										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTTTGAAGTTCTTGATTCTTC	0.343000													4	14					0.00909568	0.00929781	1	1	0
INTS8	55656	broad.mit.edu	37	8	95862176	95862176	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr8:95862176A>G	ENST00000523731.1	+	12	1497	c.1364A>G	c.(1363-1365)tAt>tGt	p.Y455C	INTS8_ENST00000447247.1_Missense_Mutation_p.Y455C	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	455					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GATCTGCAGTATGTTTTCATG	0.333000													9	61					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159655348	159655348	+	Silent	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr6:159655348C>T	ENST00000297267.9	+	11	4004	c.3804C>T	c.(3802-3804)acC>acT	p.T1268T	FNDC1_ENST00000340366.6_Silent_p.T1205T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1268						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCGCTGCCACCGTGAGCCCCG	0.726000													3	14					0	0	1	0	0
AMIGO3	386724	broad.mit.edu	37	3	49755534	49755534	+	Silent	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:49755534G>A	ENST00000535833.1	-	10	4815	c.1365C>T	c.(1363-1365)gtC>gtT	p.V455V	AMIGO3_ENST00000320431.7_Silent_p.V455V|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|GMPPB_ENST00000480687.1_3'UTR			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	455					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTCCAGAAAGACTACGTGCT	0.637000													18	101					0	0	1	0	0
GSTM3	2947	broad.mit.edu	37	1	110280353	110280353	+	Silent	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr1:110280353G>A	ENST00000540225.1	-	7	703	c.393C>T	c.(391-393)taC>taT	p.Y131Y	GSTM3_ENST00000256594.3_Silent_p.Y131Y|RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000361066.2_Silent_p.Y131Y|GSTM3_ENST00000488824.1_5'UTR			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	131	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GCTCTTCCAAGTACTGAGGCT	0.438000													8	103					0	0	1	0	0
CLIC4	25932	broad.mit.edu	37	1	25166432	25166432	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr1:25166432A>G	ENST00000374379.4	+	5	694	c.497A>G	c.(496-498)aAt>aGt	p.N166S		NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	166	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		ATTGATGAAAATAGTATGGAG	0.418000													8	35					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22842162	22842162	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr15:22842162G>A	ENST00000283645.4	+	6	731	c.601G>A	c.(601-603)Gat>Aat	p.D201N	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.D201N	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	201					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)		CAGAAAACTGGATCCTTGTAT	0.403000													7	63					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52754648	52754648	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr12:52754648G>T	ENST00000257901.3	-	9	1588	c.1513C>A	c.(1513-1515)Cgc>Agc	p.R505S	KRT85_ENST00000544265.1_Missense_Mutation_p.R293S	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	505	Tail.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TAGGCAAAGCGGACCGACCGG	0.612000													8	80					1.26484e-09	1.402e-09	1	1	0
ZNF106	64397	broad.mit.edu	37	15	42742071	42742071	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr15:42742071G>A	ENST00000263805.4	-	2	2656	c.2330C>T	c.(2329-2331)aCc>aTc	p.T777I	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		CTGCCGTAGGGTTGGCTTGAG	0.502000													11	172					0	0	1	0	0
HOXC9	3225	broad.mit.edu	37	12	54394191	54394191	+	Silent	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr12:54394191G>A	ENST00000303450.4	+	1	289	c.219G>A	c.(217-219)tcG>tcA	p.S73S	HOXC9_ENST00000508190.1_Silent_p.S73S|HOXC9_ENST00000504557.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	73					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						CCTCTCAGTCGTCCGTGGTAT	0.677000													7	34					0	0	1	0	0
CDKL2	8999	broad.mit.edu	37	4	76529139	76529139	+	Splice_Site	SNP	A	A	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr4:76529139A>T	ENST00000429927.2	-	6	1360	c.655_splice	c.e6-1	p.G219_splice	CDKL2_ENST00000307465.4_Splice_Site_p.G219_splice	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	219	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GAATTAGATTACCTGGAAGTG	0.393000													10	57					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109028057	109028057	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:109028057C>A	ENST00000478945.1	-	4	548	c.302G>T	c.(301-303)cGg>cTg	p.R101L		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	101	SAP.					nucleus	nucleic acid binding	p.R101L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACACCAGTCCCGCAAAGTGTC	0.453000													12	214					0.000978159	0.00102262	1	1	0
RBM39	9584	broad.mit.edu	37	20	34313042	34313042	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr20:34313042T>A	ENST00000361162.6	-	7	836	c.452A>T	c.(451-453)gAt>gTt	p.D151V	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000253363.6_Missense_Mutation_p.D151V|RBM39_ENST00000528062.3_Missense_Mutation_p.D129V	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	151					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	p.D151V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TGTCCTTGCATCTCTTTCCTC	0.318000													13	78					0	0	1	0	0
DFNB59	494513	broad.mit.edu	37	2	179325974	179325974	+	Silent	SNP	T	T	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr2:179325974T>C	ENST00000409117.3	+	7	1388	c.1032T>C	c.(1030-1032)ttT>ttC	p.F344F	DFNB59_ENST00000375129.4_Silent_p.F344F	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	344					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TTCCTTGTTTTGATATTTGGC	0.398000													23	113					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22145051	22145051	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr8:22145051G>T	ENST00000356766.6	+	7	902	c.754G>T	c.(754-756)Gag>Tag	p.E252*	PIWIL2_ENST00000521356.1_Nonsense_Mutation_p.E252*|PIWIL2_ENST00000454009.2_Nonsense_Mutation_p.E252*	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	252					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCCCAATGTGGAGTGCAAAAG	0.453000											OREG0018608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	62					7.03913e-09	7.70952e-09	1	1	0
ST18	9705	broad.mit.edu	37	8	53079446	53079446	+	Silent	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr8:53079446C>T	ENST00000276480.7	-	11	1853	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	390						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S390S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGGGGCACCCCGAAAGGCTGC	0.562000													15	100					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	33					0.00909568	0.00929781	1	1	0
TENM2	57451	broad.mit.edu	37	5	167674211	167674211	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr5:167674211T>A	ENST00000519204.1	+	26	6022	c.5904T>A	c.(5902-5904)ttT>ttA	p.F1968L	TENM2_ENST00000520394.1_Missense_Mutation_p.F1850L|TENM2_ENST00000518659.1_Missense_Mutation_p.F2089L|TENM2_ENST00000403607.2_Missense_Mutation_p.F1913L|TENM2_ENST00000545108.1_Missense_Mutation_p.F2088L					teneurin transmembrane protein 2																		ATGCCAGGTTTGACTACACCT	0.542000													26	85					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170204107	170204107	+	Silent	SNP	G	G	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:170204107G>T	ENST00000231706.4	-	5	1125	c.810C>A	c.(808-810)atC>atA	p.I270I	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	270						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGGTGGCGATGATGTCAAAGC	0.517000													10	64					9.70103e-10	1.08841e-09	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139404293	139404293	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr9:139404293C>T	ENST00000277541.6	-	18	2936	c.2861G>A	c.(2860-2862)tGc>tAc	p.C954Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	954	EGF-like 25; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCGTTGCGGCAGGGGTCACT	0.637000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			13	86					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699836	49699836	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:49699836C>G	ENST00000296452.4	+	6	10672	c.10558C>G	c.(10558-10560)Ccc>Gcc	p.P3520A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3520					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGCCGGAGGGCCCCTCCCTCC	0.672000													4	35					0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6935880	6935880	+	Silent	SNP	A	A	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr12:6935880A>T	ENST00000311268.3	+	5	2065	c.1278A>T	c.(1276-1278)ccA>ccT	p.P426P	GPR162_ENST00000428545.2_Silent_p.P142P|GPR162_ENST00000382315.3_Silent_p.P122P	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	426						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CTCGGGAACCAGGCTCCTTCC	0.612000													18	129					0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37368782	37368782	+	Silent	SNP	C	C	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr19:37368782C>G	ENST00000529555.1	+	2	1838	c.1050C>G	c.(1048-1050)acC>acG	p.T350T	ZNF345_ENST00000420450.1_Silent_p.T350T|ZNF345_ENST00000589046.1_Silent_p.T350T|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	350					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGGGAAGACCTTTAGTAGTG	0.408000													8	54					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99934388	99934388	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chrX:99934388T>C	ENST00000455616.1	-	16	1926	c.1580A>G	c.(1579-1581)gAg>gGg	p.E527G	SYTL4_ENST00000263033.5_Missense_Mutation_p.E527G|SYTL4_ENST00000454200.2_Missense_Mutation_p.E529G|SYTL4_ENST00000276141.6_Missense_Mutation_p.E527G|SYTL4_ENST00000372989.1_Missense_Mutation_p.E527G			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	527	C2 2.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CACCTGGAGCTCTCCCCCTTC	0.522000													6	22					0	0	1	0	0
CD70	970	broad.mit.edu	37	19	6586202	6586202	+	Silent	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr19:6586202G>A	ENST00000245903.3	-	3	560	c.411C>T	c.(409-411)tcC>tcT	p.S137S	CD70_ENST00000423145.3_Silent_p.S137S	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	137					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						TGATGCTACGGGAGGCGGGAG	0.652000													10	49					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47705433	47705433	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr2:47705433A>G	ENST00000406134.1	+	14	2295	c.2233A>G	c.(2233-2235)Ata>Gta	p.I745V	MSH2_ENST00000543555.1_Missense_Mutation_p.I679V|MSH2_ENST00000233146.2_Missense_Mutation_p.I745V			P43246	MSH2_HUMAN	mutS homolog 2	745			Missing (in HNPCC1; mainly causes defects in mismatch binding or release efficiency).		B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATTCATTAATAATCATAGA	0.338000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				11	111					0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182873476	182873476	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr1:182873476G>A	ENST00000367547.3	-	8	1662	c.1426C>T	c.(1426-1428)Cat>Tat	p.H476Y	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.H357Y	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	548										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AAAGATAGATGCATTAGTTTC	0.408000													10	82					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653389	159653389	+	Silent	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr6:159653389G>A	ENST00000297267.9	+	11	2045	c.1845G>A	c.(1843-1845)tcG>tcA	p.S615S	FNDC1_ENST00000340366.6_Silent_p.S552S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	615						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGCCCCCCTCGGCTTCGGCCT	0.677000													13	43					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	42					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937025	33937025	+	Silent	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr5:33937025G>A	ENST00000330120.3	+	1	535	c.180G>A	c.(178-180)gcG>gcA	p.A60A		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	60						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CGGACGGCGCGCCGCCAGGAC	0.701000													18	105					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701304	195701304	+	RNA	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:195701304C>T	ENST00000427841.1	-	0	1520					NR_003264.2																						AGGGCACATGCCTGACCAGAC	0.572000													7	47					0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65744400	65744400	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr15:65744400T>C	ENST00000341861.5	-	18	3940	c.2360A>G	c.(2359-2361)tAt>tGt	p.Y787C	DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000358939.4_Missense_Mutation_p.Y671C|DPP8_ENST00000559233.1_Missense_Mutation_p.Y787C|DPP8_ENST00000339244.5_Missense_Mutation_p.Y614C|DPP8_ENST00000321147.6_Missense_Mutation_p.Y736C|DPP8_ENST00000321118.7_Missense_Mutation_p.Y738C|DPP8_ENST00000300141.6_Missense_Mutation_p.Y771C	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	787					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCTGTATCATAGAAGATCCA	0.478000													25	108					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110501478	110501478	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr11:110501478G>C	ENST00000260283.4	-	4	510	c.226C>G	c.(226-228)Ctg>Gtg	p.L76V	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L53V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L40V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L40V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L50V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L50V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	76					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AATGATGACAGAAATGTGCAT	0.458000													7	70					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76111982	76111982	+	Silent	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr7:76111982C>T	ENST00000324432.5	+	5	936	c.426C>T	c.(424-426)ctC>ctT	p.L142L	DTX2_ENST00000446820.2_Silent_p.L142L|DTX2_ENST00000430490.2_Silent_p.L142L|DTX2_ENST00000446600.1_Silent_p.L51L|DTX2_ENST00000307569.8_Silent_p.L142L|DTX2_ENST00000413936.2_Silent_p.L142L	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	142	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GCAACCAGCTCGTGGACTTGG	0.617000													4	36					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218682872	218682872	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr2:218682872C>T	ENST00000171887.4	-	24	4323	c.3871G>A	c.(3871-3873)Gca>Aca	p.A1291T	TNS1_ENST00000419504.1_Missense_Mutation_p.A1278T|TNS1_ENST00000430930.1_Missense_Mutation_p.A1270T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1291						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTGGCTATTGCATTGCTATGA	0.667000													4	24					0	0	1	0	0
PPARD	5467	broad.mit.edu	37	6	35392181	35392181	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr6:35392181C>A	ENST00000311565.4	+	8	1052	c.703C>A	c.(703-705)Ctg>Atg	p.L235M	PPARD_ENST00000360694.3_Missense_Mutation_p.L235M|PPARD_ENST00000337400.2_Missense_Mutation_p.L235M|PPARD_ENST00000448077.2_Missense_Mutation_p.L196M|PPARD_ENST00000540939.1_Missense_Mutation_p.L132M|PPARD_ENST00000418635.2_Missense_Mutation_p.L137M|PPARD_ENST00000444397.1_Missense_Mutation_p.L235M	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	235					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GGTGAATGGCCTGCCTCCCTA	0.582000													17	51					1.67942e-08	1.81772e-08	1	1	0
DHDDS	79947	broad.mit.edu	37	1	26784352	26784352	+	Silent	SNP	C	C	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr1:26784352C>A	ENST00000360009.2	+	7	690	c.613C>A	c.(613-615)Cgg>Agg	p.R205R	DHDDS_ENST00000526219.1_Silent_p.R166R|DHDDS_ENST00000236342.7_Silent_p.R205R|DHDDS_ENST00000525682.2_Silent_p.R171R	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	205							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		CATCTTGATACGGACTTCTGG	0.453000													19	78					1.96292e-10	2.22949e-10	1	1	0
SLC25A30	253512	broad.mit.edu	37	13	45973119	45973119	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr13:45973119C>G	ENST00000539591.1	-	7	719	c.556G>C	c.(556-558)Ggc>Cgc	p.G186R				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	237					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		GAACATCTGCCATCTCGAAGC	0.463000													12	58					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577073	179577073	+	Silent	SNP	T	T	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr2:179577073T>C	ENST00000589042.1	-	95	27800	c.27576A>G	c.(27574-27576)aaA>aaG	p.K9192K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.K8875K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.K7948K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8875	Ig-like 75.						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)			AACAGGAATCTTTTCCAGAGG	0.383000													14	176					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126208138	126208138	+	Silent	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:126208138G>A	ENST00000290868.2	-	17	1742	c.1689C>T	c.(1687-1689)gaC>gaT	p.D563D	UROC1_ENST00000383579.3_Silent_p.D623D	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	563					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AGGCAGAGCCGTCGTAAATGT	0.478000													19	129					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784798	82784798	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr7:82784798C>A	ENST00000423517.2	-	2	1496	c.1159G>T	c.(1159-1161)Ggg>Tgg	p.G387W	PCLO_ENST00000333891.8_Missense_Mutation_p.G387W	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	341	Gln-rich.|Pro-rich.				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						GCCTTTGGCCCAGGCTGCTCC	0.597000													12	58					1.08611e-07	1.16188e-07	1	1	0
ATP11B	23200	broad.mit.edu	37	3	182616474	182616474	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:182616474C>G	ENST00000323116.5	+	28	3492	c.3232C>G	c.(3232-3234)Ctc>Gtc	p.L1078V		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1078					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGCCATAATCCTCATGGTTGT	0.403000													15	64					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37199427	37199427	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr20:37199427C>G	ENST00000262879.6	+	28	4363	c.4079C>G	c.(4078-4080)tCa>tGa	p.S1360*	RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.S1357*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.S1360*|RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.S1139*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1360	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTTCCCCTCTCAGAGCTGATG	0.368000													6	37					0	0	1	0	0
SSPN	8082	broad.mit.edu	37	12	26383752	26383752	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr12:26383752C>T	ENST00000242729.2	+	3	652	c.475C>T	c.(475-477)Ctc>Ttc	p.L159F	SSPN_ENST00000535504.1_Intron|RP11-283G6.5_ENST00000540625.1_RNA|RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000422622.2_Missense_Mutation_p.L56F|SSPN_ENST00000540266.1_Missense_Mutation_p.L56F	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	159					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					TGAGACCACACTCGACTCTTG	0.587000													6	61					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372346	126372346	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr4:126372346A>T	ENST00000394329.3	+	9	10188	c.10175A>T	c.(10174-10176)aAt>aTt	p.N3392I	FAT4_ENST00000335110.5_Missense_Mutation_p.N1690I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3392	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCACTGTAAATGTCACCGTG	0.428000													13	174					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784795	82784795	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr7:82784795G>A	ENST00000423517.2	-	2	1499	c.1162C>T	c.(1162-1164)Cca>Tca	p.P388S	PCLO_ENST00000333891.8_Missense_Mutation_p.P388S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	341	Gln-rich.|Pro-rich.				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						AAAGCCTTTGGCCCAGGCTGC	0.597000													11	60					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153026600	153026600	+	Silent	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr5:153026600G>A	ENST00000285900.5	+	3	676	c.333G>A	c.(331-333)ccG>ccA	p.P111P	GRIA1_ENST00000518783.1_Silent_p.P121P|GRIA1_ENST00000340592.5_Silent_p.P111P|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000448073.4_Silent_p.P121P|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000521843.2_Silent_p.P42P	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	111					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCATTACGCCGAGCTTTCCCG	0.493000													29	93					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66788001	66788001	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr12:66788001C>G	ENST00000359742.4	-	17	2356	c.2116G>C	c.(2116-2118)Gga>Cga	p.G706R	GRIP1_ENST00000398016.3_Missense_Mutation_p.G654R|GRIP1_ENST00000286445.7_Missense_Mutation_p.G706R			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	706	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCAGCTAATCCCCCTTTAGTG	0.453000													10	173					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7348235	7348235	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:7348235G>C	ENST00000486284.1	+	4	1203	c.929G>C	c.(928-930)tGg>tCg	p.W310S	GRM7_ENST00000402647.2_Missense_Mutation_p.W310S|GRM7_ENST00000357716.4_Missense_Mutation_p.W310S|GRM7_ENST00000403881.1_Missense_Mutation_p.W310S|GRM7_ENST00000389336.4_Missense_Mutation_p.W310S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	310					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CATTTTCTTTGGGTGGGATCA	0.483000													16	70					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899957	112899957	+	Silent	SNP	G	G	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr9:112899957G>C	ENST00000374530.3	+	8	2313	c.2133G>C	c.(2131-2133)gtG>gtC	p.V711V	AKAP2_ENST00000374525.1_Silent_p.V569V|AKAP2_ENST00000259318.7_Silent_p.V480V|AKAP2_ENST00000555236.1_Silent_p.V711V|PALM2-AKAP2_ENST00000302798.7_Silent_p.V711V|AKAP2_ENST00000510514.5_Silent_p.V711V|AKAP2_ENST00000434623.2_Silent_p.V569V	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		480							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AATTGTCGGTGAGGTCTCAGG	0.498000													10	139					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119745869	119745869	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr4:119745869C>T	ENST00000379735.5	-	3	425	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.A52T	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	52	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CCCCTAGTGGCGGTGGCCCCC	0.542000													13	121					0	0	1	0	0
KNOP1	400506	broad.mit.edu	37	16	19726274	19726274	+	Silent	SNP	T	T	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr16:19726274T>C	ENST00000219837.7	-	2	162	c.84A>G	c.(82-84)cgA>cgG	p.R28R	AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1																		AAACTGAGTATCGAGTCTCTG	0.433000													11	104					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81660621	81660621	+	Silent	SNP	G	G	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr15:81660621G>C	ENST00000558726.1	-	3	420	c.285C>G	c.(283-285)acC>acG	p.T95T	TMC3_ENST00000359440.5_Silent_p.T95T			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	95						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGTAGCCTCGGGTCCTGGTCA	0.498000													13	117					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123982927	123982927	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr5:123982927C>A	ENST00000306315.5	-	4	3585	c.3150G>T	c.(3148-3150)aaG>aaT	p.K1050N	ZNF608_ENST00000504926.1_Missense_Mutation_p.K623N	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1050						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGTCCACTTTCTTAGAATCTA	0.478000													27	62					2.48779e-11	2.86096e-11	1	1	0
CEP192	55125	broad.mit.edu	37	18	13056171	13056171	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr18:13056171T>G	ENST00000506447.1	+	19	3662	c.3582T>G	c.(3580-3582)gaT>gaG	p.D1194E	CEP192_ENST00000430049.2_Missense_Mutation_p.D719E|CEP192_ENST00000325971.8_Missense_Mutation_p.D598E	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	789										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGCCTATAGATGAAGATCAAA	0.517000													5	54					0	0	1	0	0
GGCX	2677	broad.mit.edu	37	2	85778056	85778056	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr2:85778056delT	ENST00000233838.3	-	13	1960	c.1880delA	c.(1879-1881)atfs	p.N627fs	GGCX_ENST00000430215.3_Frame_Shift_Del_p.N570fs	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	627					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	ACCACTTCCATTCTCCACCTT	0.433													13	114	---	---	---	---					
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr6:42897358_42897360delTGC	ENST00000372836.4	+	1	421_423	c.50_52delTGC	c.(49-54)ttg>t	p.LL23del	CNPY3_ENST00000394142.3_In_Frame_Del_p.LL23del	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	23					innate immune response	endoplasmic reticulum		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695													2	4	---	---	---	---					
VPS13A	23230	broad.mit.edu	37	9	79984283	79984283	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr9:79984283delA	ENST00000360280.3	+	63	8882	c.8622delA	c.(8620-8622)agfs	p.R2874fs	VPS13A_ENST00000376634.4_Frame_Shift_Del_p.R2874fs|VPS13A_ENST00000376636.3_Frame_Shift_Del_p.R2835fs|VPS13A_ENST00000357409.5_Frame_Shift_Del_p.R2874fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2874					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCTTAATTAGAGAATTTTCTG	0.294													7	113	---	---	---	---					
SPRY2	10253	broad.mit.edu	37	13	80911675	80911676	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr13:80911675_80911676insGA	ENST00000377102.1	-	2	1142_1143	c.165_166insTC	c.(163-168)tacagafs	p.R56fs	SPRY2_ENST00000377104.3_Frame_Shift_Ins_p.R56fs|SPRY2_ENST00000540649.1_Frame_Shift_Ins_p.R56fs			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	56					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GGCCCCTCTGTGTACTCATTGG	0.609													22	90	---	---	---	---					
GCH1	2643	broad.mit.edu	37	14	55369235	55369235	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr14:55369235delG	ENST00000491895.2	-	1	335	c.147delC	c.(145-147)ccfs	p.P49fs	GCH1_ENST00000395514.1_Frame_Shift_Del_p.P49fs|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000536224.2_Frame_Shift_Del_p.P49fs|GCH1_ENST00000543643.2_Frame_Shift_Del_p.P49fs	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	49					dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding			endometrium(2)|lung(7)|skin(2)	11						AGCCGTCCGCGGGCTGCGCGC	0.736													2	4	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308	by1000genomes	TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr16:32077916_32077917insTTT	ENST00000566806.1	-	0	499																											ATGGAAAACGGTTATTTTTTTG	0.421													4	6	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81183625	81183628	+	RNA	DEL	TTTT	TTTT	-	rs11296516		TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr16:81183625_81183628delTTTT	ENST00000533478.1	-	0	2609				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGTTCACACtttttttttttttt	0.466													2	4	---	---	---	---					
