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
EPHA10	284656	broad.mit.edu	37	1	38227511	38227511	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:38227511C>T	uc009vvi.3	-	2	502	c.416G>A	c.(415-417)cGt>cAt	p.R139H	EPHA10_uc001cbw.4_Missense_Mutation_p.R139H	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	139						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.R139H(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGACGCCCACGGCCCAGGTC	0.657												
SZT2	23334	broad.mit.edu	37	1	43905598	43905598	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:43905598G>A	uc001cjk.2	+	49	7002	c.4392G>A	c.(4390-4392)ggG>ggA	p.G1464G		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2363						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGGAAAAGGGGAACATTAGTA	0.567												
DAB1	1600	broad.mit.edu	37	1	57535099	57535099	+	Splice_Site	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:57535099C>T	uc009vzx.1	-	8	918	c.598_splice	c.e8-1	p.Y200_splice	DAB1_uc001cyt.1_Splice_Site_p.Y200_splice|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Splice_Site_p.Y200_splice	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	200					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						ACACAATGTACTATTACAGGA	0.413												
FPGT-TNNI3K	51086	broad.mit.edu	37	1	74665467	74665467	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:74665467C>T	uc001dge.2	+	1	269	c.202C>T	c.(202-204)Ctt>Ttt	p.L68F	LRRIQ3_uc001dfy.4_5'Flank|LRRIQ3_uc001dfz.4_5'Flank|FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.L68F|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.L68F|FPGT-TNNI3K_uc010oqu.2_Missense_Mutation_p.L68F|FPGT-TNNI3K_uc001dgb.2_Missense_Mutation_p.L68F|FPGT-TNNI3K_uc010oqt.2_Missense_Mutation_p.L68F	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	0						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										GGAGTTACCCCTTGGAGTTCA	0.403												
ST6GALNAC3	256435	broad.mit.edu	37	1	76877752	76877752	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:76877752C>T	uc001dhh.2	+	2	436	c.273C>T	c.(271-273)ggC>ggT	p.G91G	ST6GALNAC3_uc001dhg.4_Silent_p.G91G|ST6GALNAC3_uc010orh.1_Silent_p.G26G	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	91					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AGATGGTTGGCCAGAAGGTGG	0.448												
PDE4DIP	9659	broad.mit.edu	37	1	144854614	144854614	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:144854614C>T	uc021ouh.1	-	41	7158	c.6856G>A	c.(6856-6858)Gta>Ata	p.V2286I	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.V2286I|PDE4DIP_uc001elx.4_Missense_Mutation_p.V2180I|PDE4DIP_uc001elv.4_Missense_Mutation_p.V1293I	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2286					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTTGGATACTTTGGTTCTC	0.498			T	PDGFRB	MPD							
LCE1E	353135	broad.mit.edu	37	1	152760044	152760044	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:152760044C>A	uc021ozg.1	+	0	269	c.269C>A	c.(268-270)cCc>cAc	p.P90H	LCE1E_uc001fan.3_Missense_Mutation_p.P90H	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	Homo sapiens late cornified envelope 1E (LCE1E), mRNA.	90	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTCACAGACCCCAGAGCTCT	0.687												
RGS4	5999	broad.mit.edu	37	1	163044110	163044110	+	Splice_Site	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:163044110G>A	uc001gcl.4	+	6	999	c.670_splice	c.e6-1	p.V224_splice	RGS4_uc009wuy.3_Splice_Site_p.V127_splice|RGS4_uc009wuz.3_Splice_Site_p.C71_splice|RGS4_uc009wva.3_Splice_Site_p.V109_splice	NM_001102445	NP_001106851	P49798	RGS4_HUMAN	Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.	127					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTGCCCCTCAGGTGAACCTGG	0.488												
C1orf129	80133	broad.mit.edu	37	1	170928687	170928687	+	Silent	SNP	T	T	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:170928687T>G	uc010plz.2	+	4	391	c.237T>G	c.(235-237)ctT>ctG	p.L79L	C1orf129_uc001ghg.3_Silent_p.L79L|C1orf129_uc009wvy.3_5'UTR	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	79							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCCAAGTCTTGACAAAGTAA	0.363												
CACNA1E	777	broad.mit.edu	37	1	181693656	181693656	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:181693656G>A	uc009wxt.3	+	16	2320	c.2125G>A	c.(2125-2127)Gcc>Acc	p.A709T	CACNA1E_uc001gow.3_Missense_Mutation_p.A709T|CACNA1E_uc009wxs.3_Missense_Mutation_p.A709T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	709					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						TCTCGCCAACGCCCAGGAACT	0.463												
C4BPA	722	broad.mit.edu	37	1	207300203	207300203	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:207300203T>C	uc001hfo.3	+	6	1046	c.852T>C	c.(850-852)gaT>gaC	p.D284D		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	284	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GTGATGCTGATAGCAAATGGA	0.403												
PARP1	142	broad.mit.edu	37	1	226550806	226550806	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:226550806C>T	uc001hqd.4	-	20	3013	c.2842G>A	c.(2842-2844)Gtc>Atc	p.V948I		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	948	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTACCTTTGACACTGTGCTTG	0.527								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA				
RYR2	6262	broad.mit.edu	37	1	237789020	237789020	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:237789020C>T	uc001hyl.1	+	39	6202	c.6082C>T	c.(6082-6084)Cgt>Tgt	p.R2028C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2028	4 X approximate repeats.				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)			AATTAGAGGGCGTCTGCTATC	0.393												
OR2T27	403239	broad.mit.edu	37	1	248814164	248814164	+	Missense_Mutation	SNP	C	C	T	rs144642254		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:248814164C>T	uc010pzo.2	-	0	22	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCGGCATACACGGAATAATTG	0.433												
KIAA1462	57608	broad.mit.edu	37	10	30315264	30315264	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:30315264C>T	uc009xle.2	-	2	3950	c.3813G>A	c.(3811-3813)atG>atA	p.M1271I	KIAA1462_uc001iux.3_Missense_Mutation_p.M1271I|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.M1133I	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1271								p.R1270W(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGGACTCTCATCCGTGACA	0.582												
RET	5979	broad.mit.edu	37	10	43604497	43604497	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:43604497A>T	uc001jal.3	+	5	1272	c.1082A>T	c.(1081-1083)aAc>aTc	p.N361I	RET_uc001jak.1_Missense_Mutation_p.N361I|RET_uc010qez.1_Missense_Mutation_p.N107I	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	361					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.R360W(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTCAACCGGAACCTCTCCATC	0.597		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma			
GPRIN2	9721	broad.mit.edu	37	10	47000008	47000008	+	Silent	SNP	G	G	A	rs111800394		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:47000008G>A	uc001jec.3	+	2	1263	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	GPRIN2_uc021ppt.1_Silent_p.P376P	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	376										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGGAGGTGCCGTCCCCTGTGC	0.657												
ATRNL1	26033	broad.mit.edu	37	10	117061475	117061475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:117061475C>T	uc001lcg.3	+	16	3126	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*	ATRNL1_uc010qsm.2_Nonsense_Mutation_p.R89*|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	914	PSI 4.					integral to membrane	sugar binding	p.R914*(2)|p.R914Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAGTACGAAACGATGTGTTGA	0.453												
TSPAN4	7106	broad.mit.edu	37	11	866600	866600	+	Silent	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:866600A>G	uc001lsd.1	+	8	896	c.687A>G	c.(685-687)caA>caG	p.Q229Q	TSPAN4_uc001lse.1_Silent_p.Q165Q|TSPAN4_uc001lsf.1_Silent_p.Q229Q|TSPAN4_uc001lsg.1_Silent_p.Q229Q|TSPAN4_uc001lsh.1_Silent_p.Q229Q|TSPAN4_uc001lsi.1_Silent_p.Q229Q|TSPAN4_uc001lsj.1_Silent_p.Q229Q	NM_003271	NP_001020410	O14817	TSN4_HUMAN	Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.	229					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTACTGCCAAGTGGTCAAGG	0.642												
OR51S1	119692	broad.mit.edu	37	11	4870245	4870245	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:4870245C>T	uc010qyo.2	-	0	194	c.194G>A	c.(193-195)cGc>cAc	p.R65H		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R65H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGCATTGGGCGGTGCAGGGC	0.572												
RCN1	5954	broad.mit.edu	37	11	32119964	32119964	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:32119964A>G	uc010reb.2	+	2	783	c.517A>G	c.(517-519)Aga>Gga	p.R173G	RCN1_uc021qfp.1_Missense_Mutation_p.R7G|RCN1_uc001mtk.3_Missense_Mutation_p.R7G	NM_002901	NP_002892	Q15293	RCN1_HUMAN	Homo sapiens reticulocalbin 1, EF-hand calcium binding domain (RCN1), mRNA.	173	EF-hand 3.					endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					ACGTGATGAGAGAAGATTCAA	0.433												
OR4C16	219428	broad.mit.edu	37	11	55340233	55340233	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:55340233C>T	uc010rih.2	+	0	630	c.630C>T	c.(628-630)gtC>gtT	p.V210V		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGAGTTATGTCATGCTAATAT	0.433												
OR5D18	219438	broad.mit.edu	37	11	55587827	55587827	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:55587827C>A	uc010rin.2	+	0	722	c.722C>A	c.(721-723)aCc>aAc	p.T241N		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T241N(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GCCTTCTCCACCTGTGCCTCC	0.507												
LPXN	9404	broad.mit.edu	37	11	58295179	58295179	+	Silent	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:58295179A>G	uc001nmw.3	-	8	1054	c.909T>C	c.(907-909)ttT>ttC	p.F303F	LPXN_uc009ymp.3_Silent_p.F173F|LPXN_uc010rkj.2_Silent_p.F308F|LPXN_uc010rkk.2_Silent_p.F283F	NM_004811	NP_004802	O60711	LPXN_HUMAN	Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.	303	LIM zinc-binding 3.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGCCAGTAGAAAAACTGGTGA	0.473												
TYR	7299	broad.mit.edu	37	11	88911588	88911588	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:88911588A>G	uc001pcs.3	+	0	549	c.467A>G	c.(466-468)tAt>tGt	p.Y156C		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	156					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ATAGGGACCTATGGCCAAATG	0.408												
FAT3	120114	broad.mit.edu	37	11	92577445	92577445	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:92577445G>C	uc001pdj.4	+	17	10929	c.10912G>C	c.(10912-10914)Gag>Cag	p.E3638Q	FAT3_uc001pdi.4_Missense_Mutation_p.E78Q	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3638	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGTGCATGTGGAGCAGTTGGT	0.557										TCGA Ovarian(4;0.039)		
OR10G8	219869	broad.mit.edu	37	11	123901051	123901051	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:123901051C>G	uc001pzp.1	+	0	722	c.722C>G	c.(721-723)gCc>gGc	p.A241G		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CAGACCTGTGCCTCCCACTGT	0.547												
CACNA1C	775	broad.mit.edu	37	12	2675631	2675631	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:2675631C>T	uc009zdu.1	+	11	1865	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	CACNA1C_uc001qkc.2_Missense_Mutation_p.R518C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R518C|CACNA1C_uc001qke.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R518C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R518C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkj.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkk.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkm.2_Missense_Mutation_p.R518C|CACNA1C_uc001qko.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R518C|CACNA1C_uc001qku.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R518C|CACNA1C_uc001qks.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R518C|CACNA1C_uc009zdv.1_Missense_Mutation_p.R515C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R518C|CACNA1C_uc001qka.1_Missense_Mutation_p.R53C|CACNA1C_uc001qki.1_Missense_Mutation_p.R254C|CACNA1C_uc009zdy.1_Missense_Mutation_p.R183C|CACNA1C_uc001qkv.1_Missense_Mutation_p.R88C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	518					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AAGGAAGTGCCGCGCCGCAGT	0.562												
CREBL2	1389	broad.mit.edu	37	12	12765120	12765120	+	Missense_Mutation	SNP	A	A	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:12765120A>C	uc001rap.1	+	1	291	c.15_splice	c.e1+1	p.K5_splice		NM_001310	NP_001301	O60519	CRBL2_HUMAN	Homo sapiens cAMP responsive element binding protein-like 2 (CREBL2), mRNA.	5					cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		GATGACAGTAAGGTAAGTCTT	0.677												
CNTN1	1272	broad.mit.edu	37	12	41410534	41410534	+	Silent	SNP	A	A	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:41410534A>T	uc001rmm.1	+	18	2348	c.2235A>T	c.(2233-2235)gcA>gcT	p.A745A	CNTN1_uc001rmn.1_Silent_p.A734A	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	745	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ACATAGTGGCATTTAAGCCAT	0.368												
SRGAP1	57522	broad.mit.edu	37	12	64491111	64491111	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:64491111C>T	uc010ssp.1	+	14	1825	c.1769C>T	c.(1768-1770)cCc>cTc	p.P590L	SRGAP1_uc001srv.2_Missense_Mutation_p.P527L	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	590	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTGGAAAACCCCCTCTTTCCT	0.378												
PTPRB	5787	broad.mit.edu	37	12	70949684	70949684	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:70949684C>T	uc001swb.4	-	16	4335	c.4305G>A	c.(4303-4305)gaG>gaA	p.E1435E	PTPRB_uc010sto.2_Silent_p.E1345E|PTPRB_uc010stp.2_Silent_p.E1345E|PTPRB_uc001swc.4_Silent_p.E1653E|PTPRB_uc001swa.4_Silent_p.E1565E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1435	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTCAACCACCTCGCTGGTCA	0.527												
PABPC3	5042	broad.mit.edu	37	13	25671682	25671682	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:25671682G>A	uc001upy.3	+	0	1407	c.1346G>A	c.(1345-1347)cGc>cAc	p.R449H		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	449					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGTGCTATCCGCCCAGGTGCT	0.502												
ATP8A2	51761	broad.mit.edu	37	13	26273468	26273468	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:26273468C>T	uc001uqk.3	+	24	2511	c.2369C>T	c.(2368-2370)gCg>gTg	p.A790V	ATP8A2_uc010tdi.2_Missense_Mutation_p.A750V|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.A340V	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	750					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCGTGCAAAGCGGTCATATGC	0.522												
RNASEH2B	79621	broad.mit.edu	37	13	51530575	51530575	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:51530575G>C	uc001vfa.4	+	10	1303	c.904G>C	c.(904-906)Ggg>Cgg	p.G302R	RNASEH2B_uc001vfb.4_Intron	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN	Homo sapiens ribonuclease H2, subunit B (RNASEH2B), transcript variant 1, mRNA.	302					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		TACCTTTTTTGGGGTAAAAAA	0.299												
PCDH20	64881	broad.mit.edu	37	13	61985658	61985658	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:61985658T>C	uc001vid.4	-	1	2938	c.2574A>G	c.(2572-2574)agA>agG	p.R858R	PCDH20_uc010thj.2_Silent_p.R858R	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	831					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S858C(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTGGTTCTTTTCTTAAAAGAC	0.408												
MYO16	23026	broad.mit.edu	37	13	109859100	109859100	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:109859100T>C	uc010agk.2	+	34	6181	c.5559T>C	c.(5557-5559)ccT>ccC	p.P1853P	MYO16_uc001vqt.1_Silent_p.P1831P	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1831					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCCACCACCTTGCAAGAAGC	0.597												
FKBP3	2287	broad.mit.edu	37	14	45587256	45587256	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr14:45587256C>T	uc010tqf.2	-	5	945	c.595G>A	c.(595-597)Gga>Aga	p.G199R		NM_002013	NP_002004	Q00688	FKBP3_HUMAN	Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA.	199	PPIase FKBP-type.				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						CCTTTCTTTCCGTAAGCCCAT	0.378												
NBEAP1	606	broad.mit.edu	37	15	20876531	20876531	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:20876531C>A	uc010tze.1	-	1	289	c.82G>T	c.(82-84)Ggt>Tgt	p.G28C	NBEAP1_uc010tzd.2_Non-coding_Transcript					Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA.																		TGAGATAAACCATCAAGGTAT	0.343												
SPINT1	6692	broad.mit.edu	37	15	41146113	41146113	+	Missense_Mutation	SNP	C	C	T	rs145193299		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:41146113C>T	uc001zna.3	+	4	1151	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SPINT1_uc001znb.3_Intron|SPINT1_uc001znc.3_Intron|SPINT1_uc010ucs.2_Missense_Mutation_p.A316V	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	316						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGGGCTCAGGCGACTTTCCCC	0.592												
PLA2G4D	283748	broad.mit.edu	37	15	42364081	42364081	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:42364081G>A	uc001zox.3	-	14	1559	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	488	PLA2c.				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)		TCAGGAAACCGACCTCATAGG	0.607												
ATP8B4	79895	broad.mit.edu	37	15	50211036	50211036	+	Nonsense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:50211036C>A	uc001zxu.3	-	19	2177	c.2035_splice	c.e19+1	p.E679_splice	ATP8B4_uc010ber.3_Splice_Site_p.E552_splice|ATP8B4_uc010ufd.2_Splice_Site_p.E489_splice|ATP8B4_uc010ufe.2_Splice_Site	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	679					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCAAGTTACCTTGTTTGTCT	0.318												
ADAM10	102	broad.mit.edu	37	15	58925426	58925426	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:58925426G>A	uc002afd.1	-	8	1589	c.1145C>T	c.(1144-1146)gCt>gTt	p.A382V	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Missense_Mutation_p.A81V|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	382	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AACTTCGTGAGCAAAAGTAAT	0.328												
TMEM202	338949	broad.mit.edu	37	15	72700088	72700088	+	Missense_Mutation	SNP	G	G	A	rs143076809		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:72700088G>A	uc002auq.3	+	4	676	c.676G>A	c.(676-678)Gtc>Atc	p.V226I	TMEM202_uc002aur.3_Non-coding_Transcript	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	226						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGATGAAAACGTCACTGTGAT	0.478												
SCAMP5	192683	broad.mit.edu	37	15	75305137	75305137	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:75305137C>T	uc002azn.2	+	2	314	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	SCAMP5_uc002azl.2_Missense_Mutation_p.L43F|SCAMP5_uc002azm.2_Missense_Mutation_p.L43F|SCAMP5_uc002azk.2_Missense_Mutation_p.L43F|SCAMP5_uc010uly.2_Missense_Mutation_p.P24L	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	43					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CCTCTACTACCTCTGGATGTG	0.607												
CORO1A	11151	broad.mit.edu	37	16	30198720	30198720	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr16:30198720C>T	uc010bzq.3	+	6	1089	c.654C>T	c.(652-654)caC>caT	p.H218H	BOLA2_uc010bzb.1_Intron|CORO1A_uc002dww.3_Silent_p.H218H|CORO1A_uc002dwx.3_Silent_p.H112H|CORO1A_uc002dwy.1_Silent_p.H62H|CORO1A_uc002dwz.1_5'Flank	NM_001193333	NP_009005	P31146	COR1A_HUMAN	Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA.	218					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ACCGTCCCCACGAGGGGACCC	0.667												
ARMC5	79798	broad.mit.edu	37	16	31471307	31471307	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr16:31471307C>T	uc010vfn.2	+	2	871	c.747C>T	c.(745-747)ggC>ggT	p.G249G	ARMC5_uc010vfo.2_Silent_p.G186G|ARMC5_uc002ecc.3_Silent_p.G154G|ARMC5_uc002eca.4_Silent_p.G154G|ARMC5_uc002ecb.2_Silent_p.G154G|ARMC5_uc010vfp.2_Silent_p.G154G	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	154							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GACTCGGAGGCATACTCCCTT	0.597												
DNAAF1	123872	broad.mit.edu	37	16	84203678	84203678	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr16:84203678C>T	uc002fhl.4	+	7	1425	c.1244C>T	c.(1243-1245)aCc>aTc	p.T415I	DNAAF1_uc010vnw.2_Missense_Mutation_p.T179I	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	415	Pro-rich.				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						CCAGAGGGGACCCTCCCAGCT	0.617												
TP53	7157	broad.mit.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:7578268A>C	uc002gim.2	-	5	775	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_uc002gig.1_Missense_Mutation_p.L194R|TP53_uc002gih.3_Missense_Mutation_p.L194R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.L62R|TP53_uc010cnf.1_Missense_Mutation_p.L62R|TP53_uc002gii.1_Missense_Mutation_p.L62R|TP53_uc010cni.1_Missense_Mutation_p.L194R|TP53_uc010cnh.1_Missense_Mutation_p.L194R|TP53_uc002gij.2_Missense_Mutation_p.L194R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.L101R|TP53_uc002gio.2_Missense_Mutation_p.L62R|TP53_uc010vug.2_Missense_Mutation_p.L155R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L194R(84)|p.H193R(72)|p.H193L(35)|p.H193Y(27)|p.L194F(18)|p.L194P(16)|p.L194H(14)|p.H193P(14)|p.H193D(9)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.L194L(4)|p.H193N(4)|p.P191_E198>Q(4)|p.H193fs*16(3)|p.L194fs*15(3)|p.H193_I195delHLI(2)|p.P191fs*53(2)|p.L194fs*14(2)|p.L194fs*52(2)|p.H193H(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.L101H(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.L194I(1)|p.I195fs*52(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)		CACTCGGATAAGATGCTGAGG	0.552		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)		
TP53	7157	broad.mit.edu	37	17	7578542	7578542	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:7578542G>A	uc002gim.2	-	4	582	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	TP53_uc002gig.1_Missense_Mutation_p.L130F|TP53_uc002gih.3_Missense_Mutation_p.L130F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.L130F|TP53_uc010cnh.1_Missense_Mutation_p.L130F|TP53_uc002gij.2_Missense_Mutation_p.L130F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.L37F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.L91F	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	130	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L130F(26)|p.L130V(22)|p.Y126_K132delYSPALNK(12)|p.0?(8)|p.L130R(7)|p.Y126_N131delYSPALN(6)|p.L130L(4)|p.L130H(4)|p.L130fs*19(4)|p.L37F(3)|p.L130fs*41(3)|p.S127_Q136del10(2)|p.A129_L130insXX(2)|p.A129_N131delALN(2)|p.L130fs*39(2)|p.L130fs*16(2)|p.A129_K132delALNK(2)|p.L130_M133delLNKM(2)|p.A129V(2)|p.A129T(2)|p.L130del(2)|p.L130fs*40(2)|p.Y126fs*11(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.A129del(1)|p.N131fs*27(1)|p.A129G(1)|p.A129D(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.A129fs*20(1)|p.A129fs*41(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)		ATCTTGTTGAGGGCAGGGGAG	0.552		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)		
RCVRN	5957	broad.mit.edu	37	17	9808118	9808118	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:9808118A>G	uc002gme.1	-	1	568	c.381_splice	c.e1+1	p.M127_splice		NM_002903	NP_002894	P35243	RECO_HUMAN	Homo sapiens recoverin (RCVRN), mRNA.	127	EF-hand 3.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GAGACTGACCATGACGATCTC	0.642												
MYH4	4622	broad.mit.edu	37	17	10358321	10358321	+	Missense_Mutation	SNP	C	C	T	rs144778193	by1000genomes	TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:10358321C>T	uc002gmn.3	-	20	2483	c.2372G>A	c.(2371-2373)cGc>cAc	p.R791H	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	791	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R791H(2)|p.T790M(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGCTTGAGTGCGCGTGATGAG	0.463												
MYH1	4619	broad.mit.edu	37	17	10419368	10419368	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:10419368T>A	uc002gmo.3	-	4	474	c.380A>T	c.(379-381)aAc>aTc	p.N127I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	127	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.V126I(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTGTAGGGGTTGACAGTGAC	0.488												
ASIC2	40	broad.mit.edu	37	17	31341024	31341024	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:31341024G>T	uc002hht.3	-	9	2524	c.1651C>A	c.(1651-1653)Ctg>Atg	p.L551M	ASIC2_uc002hhu.3_Missense_Mutation_p.L500M	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	500					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GTCGTCTGCAGGGGCACGTTC	0.557												
ERBB2	2064	broad.mit.edu	37	17	37866667	37866667	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:37866667G>A	uc002hso.3	+	6	1072	c.834G>A	c.(832-834)acG>acA	p.T278T	ERBB2_uc010cwa.3_Silent_p.T263T|ERBB2_uc002hsm.3_Silent_p.T248T|ERBB2_uc002hsp.3_Silent_p.T81T|ERBB2_uc010cwb.3_Silent_p.T278T|ERBB2_uc010wek.2_Intron|ERBB2_uc002hsl.3_Silent_p.T248T|ERBB2_uc002hsn.1_Silent_p.T278T	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	278					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ACACAGACACGTTTGAGTCCA	0.582		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)		
DNAH17	8632	broad.mit.edu	37	17	76457727	76457727	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:76457727C>T	uc010dhp.2	-	57	9363	c.9238G>A	c.(9238-9240)Gca>Aca	p.A3080T	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											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)			AGTTGGTCTGCGCTCTCATTC	0.527												
DSG3	1830	broad.mit.edu	37	18	29046572	29046572	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr18:29046572C>T	uc002kws.3	+	10	1600	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	497	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGCTGTCCTCGAAAAAGATG	0.418												
DSG3	1830	broad.mit.edu	37	18	29055684	29055684	+	Missense_Mutation	SNP	G	G	A	rs148716637		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr18:29055684G>A	uc002kws.3	+	15	2570	c.2461G>A	c.(2461-2463)Gca>Aca	p.A821T	DSG3_uc002kwt.3_Missense_Mutation_p.A103T	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	821					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAATGAAGGCGCAGATGCCAC	0.468												
SERPINB12	89777	broad.mit.edu	37	18	61232706	61232706	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr18:61232706C>T	uc010xeo.2	+	5	734	c.734C>T	c.(733-735)aCg>aTg	p.T245M	SERPINB12_uc010xen.2_Missense_Mutation_p.T225M	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	225					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.T225M(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAGATGATGACGCAAAAAGGC	0.488												
VMAC	400673	broad.mit.edu	37	19	5909016	5909016	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:5909016G>A	uc002mds.4	+	1	423	c.373G>A	c.(373-375)Gag>Aag	p.E125K		NM_001017921	NP_001017921	Q2NL98	VMAC_HUMAN	Homo sapiens vimentin-type intermediate filament associated coiled-coil protein (VMAC), mRNA.	125						cytoplasm				lung(1)	1						GGCTGAGGCTGAGCGCCTGGG	0.721												
CERS4	79603	broad.mit.edu	37	19	8316117	8316117	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:8316117C>T	uc002mjg.3	+	2	477	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	CERS4_uc002mji.3_Intron|CERS4_uc010dvz.3_Missense_Mutation_p.R53C	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	Homo sapiens ceramide synthase 4 (CERS4), mRNA.	53						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CCTGGCCATGCGCCTTGCCTT	0.627												
MUC16	94025	broad.mit.edu	37	19	8966765	8966765	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:8966765C>T	uc002mkp.3	-	80	43392	c.43188G>A	c.(43186-43188)tcG>tcA	p.S14396S	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.S1196S|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14494				Missing (in Ref. 3; AAK74120).	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						GAGCCAGTGGCGAGAAGTTAC	0.527												
MUC16	94025	broad.mit.edu	37	19	9057573	9057573	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:9057573G>A	uc002mkp.3	-	2	30077	c.29873C>T	c.(29872-29874)aCc>aTc	p.T9958I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9960	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTTTTTGGGTGGTGATGGT	0.488												
ZNF443	10224	broad.mit.edu	37	19	12543219	12543219	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:12543219G>T	uc002mtu.3	-	2	361	c.163C>A	c.(163-165)Caa>Aaa	p.Q55K		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	55	KRAB.				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TATCTATATTGATCTTCAATG	0.294												
OR7A17	26333	broad.mit.edu	37	19	14991689	14991689	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:14991689C>A	uc010xob.2	-	0	479	c.479G>T	c.(478-480)aGc>aTc	p.S160I		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TACCATTAAGCTTTGTGACAA	0.483												
ZNF208	7757	broad.mit.edu	37	19	22155210	22155210	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:22155210G>T	uc021urr.1	-	3	2775	c.2626C>A	c.(2626-2628)Ctt>Att	p.L876I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.L776I(2)|p.L876I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGATAACTAAGGGTTGAGGGC	0.363												
MAG	4099	broad.mit.edu	37	19	35801000	35801000	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:35801000C>T	uc002nyy.2	+	7	1653	c.1455C>T	c.(1453-1455)cgC>cgT	p.R485R	MAG_uc002nyx.2_Silent_p.R485R|MAG_uc010eds.2_Silent_p.R460R|MAG_uc002nyz.2_Silent_p.R485R	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	485	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCCGCCCCGCGTCATCTGCA	0.697												
CGB8	94027	broad.mit.edu	37	19	49557640	49557640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:49557640G>A	uc002pmd.3	-	2	1626	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	CGB8_uc002pmc.3_Intron|CGB8_uc002pme.3_Nonsense_Mutation_p.Q136*	NM_033142	NP_149133	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 7 (CGB7), mRNA.	136					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	GAGGAGGCCTGGAAGCGGGGG	0.647												
ZNF28	7576	broad.mit.edu	37	19	53304049	53304049	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:53304049G>T	uc002qad.3	-	3	1206	c.1049C>A	c.(1048-1050)aCt>aAt	p.T350N	ZNF28_uc002qac.3_Missense_Mutation_p.T296N|ZNF28_uc010eqe.3_Missense_Mutation_p.T296N|ZNF28_uc021uza.1_Missense_Mutation_p.T297N	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTTCTCTCCAGTGTGAATTAT	0.373												
NLRP7	199713	broad.mit.edu	37	19	55451268	55451268	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:55451268T>C	uc002qih.4	-	3	995	c.919A>G	c.(919-921)Agg>Ggg	p.R307G	NLRP7_uc010esk.3_Missense_Mutation_p.R307G|NLRP7_uc002qig.4_Missense_Mutation_p.R307G|NLRP7_uc002qii.4_Missense_Mutation_p.R307G|NLRP7_uc010esl.3_Missense_Mutation_p.R335G	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	307	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGGAGGTCCCTCAGTGCCCTG	0.617												
NLRP5	126206	broad.mit.edu	37	19	56549462	56549462	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:56549462T>C	uc002qmj.3	+	9	2687	c.2687T>C	c.(2686-2688)cTg>cCg	p.L896P	NLRP5_uc002qmi.3_Missense_Mutation_p.L877P	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	896						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)		TCCCCCAGCCTGAAATCTCTG	0.547												
NCOA1	8648	broad.mit.edu	37	2	24929877	24929877	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:24929877C>T	uc002rfk.3	+	10	1797	c.1538C>T	c.(1537-1539)tCg>tTg	p.S513L	NCOA1_uc010eye.3_Missense_Mutation_p.S513L|NCOA1_uc002rfi.3_Missense_Mutation_p.S362L|NCOA1_uc002rfj.3_Missense_Mutation_p.S513L|NCOA1_uc002rfl.3_Missense_Mutation_p.S513L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	513	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTAATATTTCGACATTAAGC	0.418			T	PAX3	alveolar rhadomyosarcoma							
FAM179A	165186	broad.mit.edu	37	2	29268218	29268218	+	Silent	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:29268218T>A	uc010ezl.3	+	18	3015	c.2664T>A	c.(2662-2664)gcT>gcA	p.A888A	FAM179A_uc010ymm.2_Silent_p.A833A|FAM179A_uc002rmr.4_Silent_p.A415A|FAM179A_uc002rms.1_Silent_p.A186A	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	888							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGCGCTTGCTGGGCGAGTGC	0.627												
CYP1B1	1545	broad.mit.edu	37	2	38302345	38302345	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:38302345C>T	uc002rqo.2	-	1	589	c.187G>A	c.(187-189)Gcg>Acg	p.A63T		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1), mRNA.	63					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	ACCGCCGCCGCGTTTCCGATC	0.721												
ALMS1	7840	broad.mit.edu	37	2	73651879	73651879	+	Silent	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:73651879T>A	uc002sje.1	+	4	1197	c.1086T>A	c.(1084-1086)gcT>gcA	p.A362A	ALMS1_uc002sjf.1_Silent_p.A320A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	362					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAATTTAGCTGATAAAGATC	0.358												
DQX1	165545	broad.mit.edu	37	2	74747143	74747143	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:74747143C>T	uc010yrw.2	-	8	1679	c.1514G>A	c.(1513-1515)cGt>cAt	p.R505H	DQX1_uc002smc.3_Missense_Mutation_p.R66H	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	505						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GAGTGGAGGACGGGTAAACCC	0.527												
MRPL30	51263	broad.mit.edu	37	2	99811636	99811636	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:99811636G>C	uc002szu.3	+	4	535	c.337G>C	c.(337-339)Gtt>Ctt	p.V113L	MRPL30_uc002szl.1_Non-coding_Transcript|MRPL30_uc002szr.3_Missense_Mutation_p.V113L|MRPL30_uc002szv.3_Missense_Mutation_p.V113L	NM_145212	NP_660213	Q8TCC3	RM30_HUMAN	Homo sapiens mitochondrial ribosomal protein L30 (MRPL30), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	113					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ATTGAAAGTAGTTAAGCATTT	0.333												
IL36A	27179	broad.mit.edu	37	2	113763644	113763644	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:113763644G>A	uc010yxr.2	+	1	104	c.104G>A	c.(103-105)aGg>aAg	p.R35K		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	35					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GCAGTCCCGAGGAAGGACCGT	0.512												
THSD7B	80731	broad.mit.edu	37	2	138420998	138420998	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:138420998T>C	uc002tva.1	+	24	4414	c.4414T>C	c.(4414-4416)Tca>Cca	p.S1472P	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATAATGAAATCAAATGGTTT	0.383												
XIRP2	129446	broad.mit.edu	37	2	168106391	168106391	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:168106391G>A	uc002udx.3	+	8	8578	c.8489G>A	c.(8488-8490)cGa>cAa	p.R2830Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R2655Q|XIRP2_uc010fpq.3_Missense_Mutation_p.R2608Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2655					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						ATGATTGGTCGAAAAGAAGAG	0.398												
TTN	7273	broad.mit.edu	37	2	179431720	179431720	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:179431720A>G	uc021vsy.1	-	274	71660	c.71435T>C	c.(71434-71436)aTg>aCg	p.M23812T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M17507T|TTN_uc021vta.1_Missense_Mutation_p.M17440T|TTN_uc021vtb.1_Missense_Mutation_p.M17315T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24739	Fibronectin type-III 73.						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)			TGGATTTTTCATTAGTACTGG	0.403												
TTN	7273	broad.mit.edu	37	2	179456867	179456867	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:179456867C>T	uc021vsy.1	-	250	52285	c.52060G>A	c.(52060-52062)Gcc>Acc	p.A17354T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A11049T|TTN_uc021vta.1_Missense_Mutation_p.A10982T|TTN_uc021vtb.1_Missense_Mutation_p.A10857T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18281	Fibronectin type-III 26.						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)			GACCACTGGGCGCTGGCAACA	0.448												
TTN	7273	broad.mit.edu	37	2	179579856	179579856	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:179579856C>T	uc021vsy.1	-	86	22550	c.22325G>A	c.(22324-22326)gGc>gAc	p.G7442D	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4103D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8369	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G7442D(1)		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)			GTACTTCTTGCCGCTCCTAAG	0.443												
SMARCAL1	50485	broad.mit.edu	37	2	217329391	217329391	+	Splice_Site	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:217329391G>A	uc002vgc.4	+	13	2471	c.2141_splice	c.e13+1	p.I714_splice	SMARCAL1_uc002vgd.4_Splice_Site_p.I714_splice|SMARCAL1_uc010fvg.3_Splice_Site_p.I692_splice	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	714					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CATCTGTCATGTAAGTGGTCA	0.363									Schimke Immuno-Osseous Dysplasia			
BPIFB6	128859	broad.mit.edu	37	20	31630672	31630672	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr20:31630672C>A	uc010zuc.2	+	12	1240	c.1240C>A	c.(1240-1242)Cca>Aca	p.P414T	BPIFB6_uc010zud.2_Missense_Mutation_p.P353T	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	414						extracellular region	lipid binding										AGCCTACATCCCAGTTGTCAA	0.473												
CBFA2T2	9139	broad.mit.edu	37	20	32232172	32232172	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr20:32232172G>A	uc002wzg.1	+	11	2072	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	CBFA2T2_uc010zug.1_Missense_Mutation_p.R286H|CBFA2T2_uc002wze.1_Missense_Mutation_p.R503H|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.R483H|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_Missense_Mutation_p.R60H	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	512						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AACTGTGGCCGCAAAGCCAGC	0.572												
TSHZ2	128553	broad.mit.edu	37	20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	rs141167641	by1000genomes	TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr20:51870661G>A	uc002xwo.3	+	1	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	TSHZ2_uc021wex.1_Missense_Mutation_p.A219T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	222					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A222T(2)|p.A222V(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAGTGCAGCGCGGCCTATGA	0.562												
GRIK1	2897	broad.mit.edu	37	21	30949385	30949385	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr21:30949385C>G	uc002yno.1	-	13	2493	c.2029G>C	c.(2029-2031)Gag>Cag	p.E677Q	GRIK1_uc002ynn.3_Missense_Mutation_p.E662Q|GRIK1_uc011acs.2_Missense_Mutation_p.E677Q|GRIK1_uc011act.2_Missense_Mutation_p.E538Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	677					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCCATTCTCTCTACTGTCAAG	0.448												
TSPEAR	54084	broad.mit.edu	37	21	45949800	45949800	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr21:45949800T>C	uc002zfe.1	-	4	737	c.671A>G	c.(670-672)gAc>gGc	p.D224G	TSPEAR_uc010gpv.1_Missense_Mutation_p.D156G	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	224					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						TGGGGTGGCGTCTGAGCCCGG	0.677												
ALS2CL	259173	broad.mit.edu	37	3	46720751	46720751	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:46720751G>A	uc003cqa.2	-	14	1768	c.1575C>T	c.(1573-1575)gaC>gaT	p.D525D	ALS2CL_uc003cpx.2_5'Flank|ALS2CL_uc003cpy.2_5'Flank|ALS2CL_uc003cpz.2_Silent_p.D40D|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.D525D	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	525					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		ACAGGGAGTCGTCTTCAGAGA	0.627												
MORC1	27136	broad.mit.edu	37	3	108778663	108778663	+	Nonsense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:108778663C>A	uc003dxl.3	-	11	1108	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*	MORC1_uc011bhn.2_Nonsense_Mutation_p.E341*	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	341					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTTGTTTCTCTTTAAGATTC	0.368												
GOLGB1	2804	broad.mit.edu	37	3	121410932	121410932	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:121410932C>T	uc010hrc.3	-	13	7405	c.7279G>A	c.(7279-7281)Gag>Aag	p.E2427K	GOLGB1_uc003eei.4_Missense_Mutation_p.E2422K|GOLGB1_uc003eej.4_Missense_Mutation_p.E2388K|GOLGB1_uc021xcy.1_Missense_Mutation_p.E2347K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2422					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATATTCTCCTCTTCCTCCTGG	0.398												
CASR	846	broad.mit.edu	37	3	122004023	122004023	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:122004023C>T	uc003eew.4	+	6	3690	c.3252C>T	c.(3250-3252)aaC>aaT	p.N1084N	CASR_uc003eev.4_Silent_p.N1074N	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	1074					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTACAGAAAACGTAGTGAATT	0.522												
TLR1	7096	broad.mit.edu	37	4	38798595	38798595	+	Missense_Mutation	SNP	G	G	A	rs144775976	byFrequency	TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:38798595G>A	uc003gtl.3	-	3	2132	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	TLR1_uc021xnn.1_Missense_Mutation_p.R620W	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	620					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GCCCTGCGCCGGGTCTGGGTC	0.517												
PDGFRA	5156	broad.mit.edu	37	4	55138611	55138611	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:55138611G>A	uc003han.4	+	8	1619	c.1288G>A	c.(1288-1290)Gga>Aga	p.G430R	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.G324R|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	430	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTCAACTGGGGGACAGACGGT	0.473			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)		
PDGFRA	5156	broad.mit.edu	37	4	55138664	55138664	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:55138664G>C	uc003han.4	+	8	1672	c.1341G>C	c.(1339-1341)tgG>tgC	p.W447C	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W341C|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	447	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATATTGAGTGGATGATATGCA	0.438			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)		
FRAS1	80144	broad.mit.edu	37	4	79418093	79418093	+	Silent	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:79418093C>A	uc003hlb.2	+	59	9533	c.9093C>A	c.(9091-9093)atC>atA	p.I3031I	FRAS1_uc003hlc.1_Silent_p.I33I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3026	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGCCACCATCACCATATCCA	0.408												
LARP7	51574	broad.mit.edu	37	4	113568448	113568448	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:113568448G>A	uc003iaz.3	+	8	1226	c.761G>A	c.(760-762)aGc>aAc	p.S254N	LARP7_uc003iay.3_Missense_Mutation_p.S247N|LARP7_uc003iba.3_Missense_Mutation_p.S168N|LARP7_uc003ibb.3_Missense_Mutation_p.S247N	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 7 (LARP7), transcript variant 1, mRNA.	247	Lys-rich.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		agcaacaCCAGCATCAGTAAA	0.403												
ARFIP1	27236	broad.mit.edu	37	4	153809448	153809448	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:153809448G>A	uc003imz.3	+	7	1231	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	ARFIP1_uc003inb.3_Missense_Mutation_p.E287K|ARFIP1_uc003ina.3_Missense_Mutation_p.E287K|ARFIP1_uc003inc.3_Missense_Mutation_p.E319K|ARFIP1_uc011cij.2_Missense_Mutation_p.E139K	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 1 (ARFIP1), transcript variant 1, mRNA.	319	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					GAAATTTCTAGAAGAAAATAA	0.353												
ASIC5	51802	broad.mit.edu	37	4	156764950	156764950	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:156764950G>A	uc003ipe.1	-	4	791	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	248						integral to membrane|plasma membrane											CAGCATCAACGAAACCAAGGG	0.413												
FSTL5	56884	broad.mit.edu	37	4	162459448	162459448	+	Silent	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:162459448A>G	uc003iqh.3	-	9	1618	c.1182T>C	c.(1180-1182)aaT>aaC	p.N394N	FSTL5_uc003iqi.3_Silent_p.N393N|FSTL5_uc010iqv.3_Silent_p.N393N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	394	Ig-like 2.					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)		CCTCACTGCCATTTGCTGAAA	0.408												
IRX2	153572	broad.mit.edu	37	5	2749779	2749779	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:2749779G>A	uc003jda.3	-	1	614	c.372C>T	c.(370-372)gaC>gaT	p.D124D	C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Silent_p.D124D	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	124						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D124D(2)|p.R123Q(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGGCCGTGGCGTCCCGCGTGG	0.652												
BDP1	55814	broad.mit.edu	37	5	70813215	70813215	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:70813215G>A	uc003kbp.1	+	21	5190	c.4927G>A	c.(4927-4929)Gaa>Aaa	p.E1643K	BDP1_uc003kbo.3_Missense_Mutation_p.E1643K	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1643					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAGAATGTATGAAAATCAAAG	0.303												
JMY	133746	broad.mit.edu	37	5	78612055	78612055	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:78612055T>C	uc003kfx.4	+	9	3441	c.2892T>C	c.(2890-2892)ctT>ctC	p.L964L		NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	964					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		ATGAAGCTCTTAGAAGAATTA	0.438												
HOMER1	9456	broad.mit.edu	37	5	78697771	78697771	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:78697771T>C	uc003kfy.3	-	5	1738	c.635A>G	c.(634-636)aAa>aGa	p.K212R	HOMER1_uc010jab.3_Intron|HOMER1_uc010jac.3_Intron|HOMER1_uc010jad.3_Missense_Mutation_p.K38R	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	212					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		AAGTTGCTGTTTCCATTGTTT	0.478												
ELL2	22936	broad.mit.edu	37	5	95234136	95234136	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:95234136G>T	uc003klr.4	-	7	1683	c.1333C>A	c.(1333-1335)Cta>Ata	p.L445I		NM_012081	NP_036213	O00472	ELL2_HUMAN	Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA.	445					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		GGACACTTTAGTAGAACGGAA	0.373												
APC	324	broad.mit.edu	37	5	112174282	112174282	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:112174282T>C	uc003kpz.4	+	16	3184	c.2991T>C	c.(2989-2991)taT>taC	p.Y997Y	APC_uc011cvt.2_Silent_p.Y979Y|APC_uc003kpy.4_Silent_p.Y997Y|APC_uc010jbz.3_Silent_p.Y714Y|APC_uc010jca.3_Silent_p.Y297Y	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	997	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.Y997fs*8(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTTGCAGTTATGGTCAATACC	0.343		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)		
MAML1	9794	broad.mit.edu	37	5	179201677	179201677	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:179201677C>T	uc003mkm.3	+	4	3113	c.2850C>T	c.(2848-2850)ggC>ggT	p.G950G	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	950					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACAGATGGGCGGTCGGGCGG	0.706												
MYLK4	340156	broad.mit.edu	37	6	2685573	2685573	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:2685573C>A	uc003mty.4	-	5	799	c.502G>T	c.(502-504)Gat>Tat	p.D168Y		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	168	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCGAAGGCATCGTACAGCTGG	0.557												
HIVEP1	3096	broad.mit.edu	37	6	12164550	12164550	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:12164550T>C	uc003nac.3	+	8	8192	c.8013T>C	c.(8011-8013)gtT>gtC	p.V2671V	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2671					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATTCTGAAGTTTTTACAAAGC	0.577												
RNF5	6048	broad.mit.edu	37	6	32147882	32147882	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:32147882G>A	uc003oaj.4	+	4	551	c.424G>A	c.(424-426)Gag>Aag	p.E142K	AGPAT1_uc003oag.3_5'Flank|AGPAT1_uc003oah.3_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	Homo sapiens ring finger protein 5 (RNF5), mRNA.	142					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|lung(7)|urinary_tract(2)	10						CAATGCCCATGAGCCTTTCCG	0.557												
COL11A2	1302	broad.mit.edu	37	6	33133402	33133402	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:33133402C>A	uc003ocx.1	-	62	4902	c.4674G>T	c.(4672-4674)agG>agT	p.R1558S	COL11A2_uc010jul.1_Missense_Mutation_p.R128S|COL11A2_uc003ocy.1_Missense_Mutation_p.R1472S|COL11A2_uc003ocz.1_Missense_Mutation_p.R1451S	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1558	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.M1557I(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGTTGGCCGCCTCATCTGCT	0.662												
TFEB	7942	broad.mit.edu	37	6	41654875	41654875	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:41654875G>A	uc021yzl.1	-	5	962	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	TFEB_uc003oqs.1_Missense_Mutation_p.R254C|TFEB_uc003oqt.1_Missense_Mutation_p.R254C|TFEB_uc003oqu.1_Missense_Mutation_p.R254C|TFEB_uc003oqv.1_Missense_Mutation_p.R254C|TFEB_uc003oqr.1_Missense_Mutation_p.R169C	NM_007162	NP_009093	P19484	TFEB_HUMAN	Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.	254					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCCTTGATGCGGTCATTGATG	0.537			T	ALPHA	renal (childhood epithelioid)							
C7orf31	136895	broad.mit.edu	37	7	25182279	25182279	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:25182279G>A	uc003sxn.1	-	7	1400	c.839C>T	c.(838-840)tCg>tTg	p.S280L		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	280										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ATGAGTGTACGAAGTGAGCCA	0.368												
VPS41	27072	broad.mit.edu	37	7	38816326	38816326	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:38816326C>T	uc003tgy.3	-	10	861	c.835G>A	c.(835-837)Gat>Aat	p.D279N	VPS41_uc003tgz.3_Missense_Mutation_p.D254N|VPS41_uc010kxn.3_Missense_Mutation_p.D190N	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	279					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ACAAGCTGATCACAGAGAGGT	0.413												
URGCP	55665	broad.mit.edu	37	7	43917540	43917540	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:43917540C>T	uc003tiw.3	-	5	1579	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.E465K|URGCP_uc003tiv.3_Missense_Mutation_p.E433K|URGCP_uc003tix.3_Missense_Mutation_p.E499K|URGCP_uc003tiy.3_Missense_Mutation_p.E465K|URGCP_uc003tiz.3_Missense_Mutation_p.E465K|URGCP_uc011kbj.2_Missense_Mutation_p.E465K	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	508					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACTCCTTCTCCACTTGGGCT	0.607												
POM121L12	285877	broad.mit.edu	37	7	53103790	53103790	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:53103790G>A	uc003tpz.3	+	0	442	c.426G>A	c.(424-426)gcG>gcA	p.A142A		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	142								p.A142V(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCGGGATCGCGCCCCCTGAGC	0.721												
POM121L12	285877	broad.mit.edu	37	7	53103915	53103915	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:53103915A>T	uc003tpz.3	+	0	567	c.551A>T	c.(550-552)cAg>cTg	p.Q184L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	184								p.Q184H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGCTCAGCCAGTGCCCCAAG	0.711												
DUS4L	11062	broad.mit.edu	37	7	107217955	107217955	+	Missense_Mutation	SNP	T	T	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:107217955T>G	uc003veh.3	+	7	1237	c.904T>G	c.(904-906)Tca>Gca	p.S302A	DUS4L_uc011klw.2_Non-coding_Transcript|DUS4L_uc011klx.2_Missense_Mutation_p.S181A|DUS4L_uc022ajw.1_Missense_Mutation_p.S181A|DUS4L_uc010ljl.3_Missense_Mutation_p.S212A|BCAP29_uc003vej.2_5'Flank|BCAP29_uc011kly.1_5'Flank	NM_181581	NP_853559	O95620	DUS4L_HUMAN	Homo sapiens dihydrouridine synthase 4-like (S. cerevisiae) (DUS4L), mRNA.	302					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TAATGCTCTGTCAAGCACATC	0.353												
TES	26136	broad.mit.edu	37	7	115889257	115889257	+	Silent	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:115889257T>A	uc003vho.3	+	2	512	c.297T>A	c.(295-297)gcT>gcA	p.A99A	TES_uc011kmx.2_Silent_p.A99A|TES_uc011kmy.2_Intron|TES_uc010lka.2_Silent_p.A90A|TES_uc003vhp.3_Silent_p.A90A|TES_uc022aki.1_Non-coding_Transcript	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	99	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			ATCCAGTTGCTGCCAAGAAGA	0.383												
GRM8	2918	broad.mit.edu	37	7	126542691	126542691	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:126542691C>T	uc003vlr.2	-	4	1372	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R354Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R75Q	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	354					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CACATTTCTTCGATTATTGGC	0.348										HNSCC(24;0.065)		
AGAP3	116988	broad.mit.edu	37	7	150840450	150840450	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:150840450C>T	uc003wjg.1	+	16	2299	c.2296C>T	c.(2296-2298)Cgg>Tgg	p.R766W	AGAP3_uc003wje.1_Missense_Mutation_p.R435W|AGAP3_uc003wjj.1_Missense_Mutation_p.R265W|AGAP3_uc003wjk.1_Missense_Mutation_p.R184W	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	730					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACGCTGGATACGGGCCAAGTA	0.622												
CLVS1	157807	broad.mit.edu	37	8	62212806	62212806	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr8:62212806T>C	uc003xuh.3	+	1	744	c.420T>C	c.(418-420)atT>atC	p.I140I	CLVS1_uc003xug.2_Silent_p.I140I|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	140	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GCAGGAAGATTCTTTTGCTGT	0.448												
SBSPON	157869	broad.mit.edu	37	8	73982070	73982070	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr8:73982070C>T	uc003xzf.3	-	3	852	c.647G>A	c.(646-648)cGt>cAt	p.R216H		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.	216					immune response	extracellular region	polysaccharide binding|scavenger receptor activity										TCCAGAACAACGAAGGCTCAC	0.478												
LAMC3	10319	broad.mit.edu	37	9	133948659	133948659	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr9:133948659C>T	uc004caa.1	+	19	3543	c.3445C>T	c.(3445-3447)Ccg>Tcg	p.P1149S		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1149	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TCCCAGTCAGCCGACCAAATG	0.582												
KCNT1	57582	broad.mit.edu	37	9	138657034	138657034	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr9:138657034G>A	uc011mdq.2	+	11	1267	c.1193G>A	c.(1192-1194)cGg>cAg	p.R398Q	KCNT1_uc011mdr.2_Missense_Mutation_p.R225Q|KCNT1_uc010nbf.3_Missense_Mutation_p.R353Q|KCNT1_uc004cgo.1_Missense_Mutation_p.R147Q	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	398						membrane	binding|calcium-activated potassium channel activity	p.P397T(1)|p.R398R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCCCACCCCCGGCTCCAGGTG	0.642												
ACE2	59272	broad.mit.edu	37	X	15582159	15582159	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:15582159C>T	uc004cxa.1	-	16	2465	c.2297G>A	c.(2296-2298)aGa>aAa	p.R766K	ACE2_uc004cxb.2_Missense_Mutation_p.R766K	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	766					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CTTCCGATCTCTGATCCCAGT	0.413												
RS1	6247	broad.mit.edu	37	X	18690198	18690198	+	Translation_Start_Site	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:18690198G>A	uc004cyo.3	-	0						NM_000330	NP_000321	O15537	XLRS1_HUMAN	Homo sapiens retinoschisin 1 (RS1), mRNA.						cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TCTTCCCCTCGTCCTCGGCCA	0.443												
KLHL34	257240	broad.mit.edu	37	X	21674007	21674007	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:21674007C>T	uc004czz.1	-	0	2442	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	JA611288_uc022btu.1_5'Flank	NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	634										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TCTCCAACCTCTCCCTCCCTC	0.637												
BCOR	54880	broad.mit.edu	37	X	39932304	39932304	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:39932304G>A	uc004den.4	-	3	2587	c.2295C>T	c.(2293-2295)tcC>tcT	p.S765S	BCOR_uc004dep.4_Silent_p.S765S|BCOR_uc004deo.4_Silent_p.S765S|BCOR_uc004dem.4_Silent_p.S765S|BCOR_uc004deq.4_Silent_p.S765S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	765					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCAAAATCTCGGAAAACCGAT	0.512			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic					
BMP15	9210	broad.mit.edu	37	X	50653945	50653945	+	Silent	SNP	C	C	T	rs149633402		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:50653945C>T	uc011mnw.2	+	0	211	c.162C>T	c.(160-162)ggC>ggT	p.G54G		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	54					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AATCCCCTGGCGAACAGCCAA	0.592												
KDM5C	8242	broad.mit.edu	37	X	53230914	53230914	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:53230914G>A	uc004drz.3	-	13	2412	c.1879C>T	c.(1879-1881)Cgc>Tgc	p.R627C	KDM5C_uc022bxe.1_Missense_Mutation_p.R560C|KDM5C_uc004dsa.3_Missense_Mutation_p.R626C	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	627	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATGCACTGGCGCCCAGCAGGC	0.587			"""N, F, S"""		clear cell renal carcinoma							
FAM123B	139285	broad.mit.edu	37	X	63412206	63412206	+	Frame_Shift_Del	DEL	T	T	-			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:63412206delT	uc022byb.1	-	0	961	c.961delA	c.(961-963)agcfs	p.S321fs	FAM123B_uc004dvo.3_Frame_Shift_Del_p.S321fs	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	321					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						GAATCAAAGCTTTTCAGGGAT	0.522												
YIPF6	286451	broad.mit.edu	37	X	67731798	67731798	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:67731798T>A	uc004dwz.3	+	1	450	c.165T>A	c.(163-165)aaT>aaA	p.N55K	YIPF6_uc011mph.2_Intron	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA.	55						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CCACATTAAATGAATCTGTTC	0.393												
PCDH11X	27328	broad.mit.edu	37	X	91133162	91133162	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:91133162C>A	uc004efk.2	+	1	2768	c.1923C>A	c.(1921-1923)ttC>ttA	p.F641L	PCDH11X_uc004efl.2_Missense_Mutation_p.F641L|PCDH11X_uc010nmv.2_Missense_Mutation_p.F641L|PCDH11X_uc004efm.2_Missense_Mutation_p.F641L|PCDH11X_uc004efn.2_Missense_Mutation_p.F641L|PCDH11X_uc004efo.2_Missense_Mutation_p.F641L|PCDH11X_uc004efh.2_Missense_Mutation_p.F641L|PCDH11X_uc004efj.1_Missense_Mutation_p.F641L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	641	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTACACTTTCTATGTAAAGG	0.363												
OCRL	4952	broad.mit.edu	37	X	128721074	128721074	+	Silent	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:128721074A>G	uc004euq.3	+	19	2400	c.2235A>G	c.(2233-2235)ctA>ctG	p.L745L	OCRL_uc004eur.3_Silent_p.L737L|OCRL_uc010nrb.3_5'Flank	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	745	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TAGATCACCTATTCAAATACG	0.458												
HTATSF1	27336	broad.mit.edu	37	X	135593609	135593609	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:135593609G>T	uc004ezw.3	+	9	2127	c.1705G>T	c.(1705-1707)Ggt>Tgt	p.G569C	HTATSF1_uc004ezx.3_Missense_Mutation_p.G569C	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	569	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGAAGAAAATGGTCTCGAGAA	0.393												
SOX3	6658	broad.mit.edu	37	X	139586804	139586804	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:139586804C>T	uc004fbd.1	-	0	422	c.422G>A	c.(421-423)cGg>cAg	p.R141Q		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	141					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	p.R141R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GTTCATGGGCCGTTTCACACG	0.652												
MTM1	4534	broad.mit.edu	37	X	149839946	149839946	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:149839946C>T	uc004fef.4	+	14	1766	c.1690C>T	c.(1690-1692)Cgc>Tgc	p.R564C	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.R527C|MTM1_uc011mxz.2_Missense_Mutation_p.R449C|MTM1_uc010nte.3_Missense_Mutation_p.R432C	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	564					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAGCCTTACGCGACGAATA	0.517												
GABRE	2564	broad.mit.edu	37	X	151128446	151128446	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:151128446A>G	uc004ffi.3	-	5	703	c.649T>C	c.(649-651)Tcc>Ccc	p.S217P	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	217					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGATAGGAAACTGGAAAG	0.438												
PLXNB3	5365	broad.mit.edu	37	X	153033712	153033712	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:153033712C>T	uc010nuk.2	+	4	1435	c.1164C>T	c.(1162-1164)ccC>ccT	p.P388P	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.P47P|PLXNB3_uc004fii.2_Silent_p.P365P|PLXNB3_uc011mzd.1_Silent_p.P4P	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	365	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	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)					AGGATTCCCCCGAGTCGTACC	0.687												
MPP1	4354	broad.mit.edu	37	X	154009984	154009984	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:154009984T>A	uc004fmp.2	-	9	1194	c.1040A>T	c.(1039-1041)gAg>gTg	p.E347V	MPP1_uc011mzv.2_Missense_Mutation_p.E317V|MPP1_uc010nvg.2_Missense_Mutation_p.E327V|MPP1_uc011mzw.2_Missense_Mutation_p.E330V	NM_002436	NP_002427	Q00013	EM55_HUMAN	Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.	347	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCCAAGAACTCATTGGCAGA	0.468												
