Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
NBPF12	149013	broad.mit.edu	37	1	146459553	146459556	+	Frame_Shift_Del	DEL	GATA	GATA	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	GATA	GATA	-	-	GATA	GATA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:146459553_146459556delGATA	ENST00000442909.2	+	74	9630_9633	c.8794_8797delGATA	c.(8794-8799)gatagafs	p.DR2932fs	NBPF12_ENST00000446760.2_Intron|NBPF12_ENST00000446080.2_Intron|NBPF12_ENST00000537773.1_3'UTR|NBPF12_ENST00000309471.8_Intron					neuroblastoma breakpoint family, member 12	NA										ovary(2)	2						GGACTCACTGGATAGATGTTATTC	0.466		NA											False	1	False	1:146459553	0
DGKK	139189	broad.mit.edu	37	X	50213545	50213556	+	RNA	DEL	GCGGCGGAGCCG	GCGGCGGAGCCG	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	GCGGCGGAGCCG	GCGGCGGAGCCG	-	-	GCGGCGGAGCCG	GCGGCGGAGCCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:50213545_50213556delGCGGCGGAGCCG	ENST00000376025.2	-	0	181_192							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa	NA					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGGAGAgcagcggcggagccggcggcggagc	0.693		NA											False	1	False	X:50213545	0
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	NA										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314		NA											False	1	False	2:97847365	0
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394		NA											False	1	False	3:137880741	0
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433		NA											False	1	False	6:7393450	0
PRSS3	5646	broad.mit.edu	37	9	33796802	33796803	+	Splice_Site	INS	-	-	TGG			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:33796802_33796803insTGG	ENST00000361005.5	+	2	371		c.e2+2		PRSS3_ENST00000342836.4_Splice_Site|PRSS3_ENST00000429677.3_Splice_Site|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Splice_Site	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3	NA					digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CTACAAGACGTAAGTGTGGGGC	0.594		NA											False	0	False	9:33796802	0
ATP13A2	23400	broad.mit.edu	37	1	17313653	17313653	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:17313653G>A	ENST00000452699.1	-	26	3145	c.2956C>T	c.(2956-2958)Cgg>Tgg	p.R986W	ATP13A2_ENST00000341676.5_Missense_Mutation_p.R947W|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.R991W	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	991					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCCGGTGGCCGCACCCGTCCC	0.687		NA											False	0	False	1:17313653	0
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353		NA											False	0	False	2:109371498	0
OR52B4	143496	broad.mit.edu	37	11	4389022	4389022	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:4389022C>T	ENST00000408920.2	-	1	594	c.504G>A	c.(502-504)ttG>ttA	p.L168L		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCAGAAAGTCAATCTTTTTA	0.343		NA											False	0	False	11:4389022	0
SCN1A	6323	broad.mit.edu	37	2	166930064	166930064	+	Missense_Mutation	SNP	G	G	A	rs139397227	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:166930064G>A	ENST00000423058.2	-	1	85	c.68C>T	c.(67-69)gCg>gTg	p.A23V	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.A23V|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A23V|SCN1A_ENST00000409050.1_Missense_Mutation_p.A23V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	23						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTCAATAGCCGCAAGAGATTC	0.423		NA											False	0	False	2:166930064	0
ABTB2	25841	broad.mit.edu	37	11	34226220	34226220	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:34226220C>T	ENST00000435224.2	-	2	1325	c.901G>A	c.(901-903)Gca>Aca	p.A301T	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Missense_Mutation_p.A115T	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	115							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGAAGTATGCGGGGAGGGAG	0.637		NA											False	0	True	11:34226220	0
ROBO4	54538	broad.mit.edu	37	11	124761327	124761327	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:124761327G>A	ENST00000306534.3	-	12	2301	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C|RP11-664I21.6_ENST00000524433.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	606					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGTGGGAGGCGCCTGACAGCT	0.662		NA											False	0	False	11:124761327	0
MYOM2	9172	broad.mit.edu	37	8	2041906	2041906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:2041906C>T	ENST00000262113.4	+	17	2254	c.2113C>T	c.(2113-2115)Cag>Tag	p.Q705*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.Q130*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	705					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CATAAAAGTGCAGGCCGCACT	0.488		NA											False	0	False	8:2041906	0
MLKL	197259	broad.mit.edu	37	16	74729301	74729301	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:74729301C>G	ENST00000308807.7	-	2	818	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	MLKL_ENST00000306247.7_Missense_Mutation_p.E119Q	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	119							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						ATGCGTTGCTCAACCTGAAGT	0.517		NA											False	0	False	16:74729301	0
CHRNB4	1143	broad.mit.edu	37	15	78922232	78922232	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:78922232C>T	ENST00000261751.3	-	5	526	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	139					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.G139C(1)|p.G139S(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						AGGACGCTGCCGTTGGACCGG	0.572		NA											False	0	False	15:78922232	0
DNAH5	1767	broad.mit.edu	37	5	13891148	13891148	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr5:13891148C>T	ENST00000265104.4	-	17	2618	c.2514G>A	c.(2512-2514)acG>acA	p.T838T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	838	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACAAAGAGGCGTGCTGCTCA	0.408		NA							Kartagener syndrome				False	0	False	5:13891148	0
ATP5B	506	broad.mit.edu	37	12	57037309	57037309	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:57037309C>T	ENST00000262030.3	-	5	720	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	ATP5B_ENST00000552919.1_Missense_Mutation_p.A224T	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	224					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	p.A224T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGCTTTGGCGACATTGTTG	0.413		NA											False	0	False	12:57037309	0
HUWE1	10075	broad.mit.edu	37	X	53566769	53566769	+	Silent	SNP	G	G	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:53566769G>T	ENST00000342160.3	-	74	11938	c.11481C>A	c.(11479-11481)tcC>tcA	p.S3827S	HUWE1_ENST00000262854.6_Silent_p.S3827S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3827					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGGTTCCATCGGAGGCTGGAG	0.502		NA											False	0	False	X:53566769	0
SCN5A	6331	broad.mit.edu	37	3	38601865	38601865	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:38601865C>T	ENST00000413689.1	-	23	4211	c.4018G>A	c.(4018-4020)Gtc>Atc	p.V1340I	SCN5A_ENST00000449557.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000333535.4_Missense_Mutation_p.V1340I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1340I|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1339I|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1286I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1340					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATGAGGCAGACGAGGAGGACG	0.577		NA											False	0	False	3:38601865	0
TCP11	6954	broad.mit.edu	37	6	35088799	35088799	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:35088799C>T	ENST00000311875.5	-	6	1058	c.641G>A	c.(640-642)cGg>cAg	p.R214Q	TCP11_ENST00000373974.4_Missense_Mutation_p.R168Q|TCP11_ENST00000418521.2_Missense_Mutation_p.R138Q|TCP11_ENST00000412155.2_Missense_Mutation_p.R163Q|TCP11_ENST00000373979.2_Missense_Mutation_p.R139Q|TCP11_ENST00000244645.3_Missense_Mutation_p.R139Q|TCP11_ENST00000512012.1_Missense_Mutation_p.R201Q|TCP11_ENST00000444780.2_Missense_Mutation_p.R209Q			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	201					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CATTTTCATCCGGCCCAGAAC	0.453		NA											False	0	False	6:35088799	0
ABCA13	154664	broad.mit.edu	37	7	48494876	48494876	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:48494876T>C	ENST00000435803.1	+	43	12832	c.12808T>C	c.(12808-12810)Ttt>Ctt	p.F4270L	ABCA13_ENST00000544596.1_Missense_Mutation_p.F30L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4270					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGAGACCTACTTTTTCAGGTA	0.463		NA											False	0	True	7:48494876	0
PBLD	64081	broad.mit.edu	37	10	70056061	70056061	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:70056061G>A	ENST00000358769.2	-	4	447	c.245C>T	c.(244-246)gCc>gTc	p.A82V	PBLD_ENST00000336578.1_Missense_Mutation_p.A49V|PBLD_ENST00000309049.4_Missense_Mutation_p.A82V|PBLD_ENST00000432941.1_Missense_Mutation_p.A82V|PBLD_ENST00000495025.2_Missense_Mutation_p.A82V	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	82					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGCCAGGGTGGCATGGCCACA	0.423		NA											False	0	False	10:70056061	0
EIF3A	8661	broad.mit.edu	37	10	120801889	120801889	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:120801889G>A	ENST00000369144.3	-	19	3270	c.3143C>T	c.(3142-3144)cCg>cTg	p.P1048L	EIF3A_ENST00000541549.1_Missense_Mutation_p.P1014L	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1048	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCCTCGCCTCGGCCCCCGGTC	0.607		NA											False	0	True	10:120801889	0
SHCBP1	79801	broad.mit.edu	37	16	46615801	46615801	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:46615801G>A	ENST00000303383.3	-	13	2125	c.1859C>T	c.(1858-1860)gCt>gTt	p.A620V		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	620										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TGTGGAGGCAGCAATTAGTTC	0.438		NA											False	0	False	16:46615801	0
FASN	2194	broad.mit.edu	37	17	80046303	80046303	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:80046303G>A	ENST00000306749.2	-	16	2774	c.2556C>T	c.(2554-2556)aaC>aaT	p.N852N		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	852					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AACCTGAACCGTTGGGGAAGT	0.667		NA											False	0	False	17:80046303	0
MICAL3	57553	broad.mit.edu	37	22	18301393	18301393	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr22:18301393C>T	ENST00000441493.2	-	26	4386	c.4034G>A	c.(4033-4035)cGc>cAc	p.R1345H		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1345	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCCCTTGCTGCGGTCCACAGG	0.632		NA											False	0	False	22:18301393	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	True	17:7578212	0
PHACTR3	116154	broad.mit.edu	37	20	58318299	58318299	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:58318299G>A	ENST00000371015.1	+	2	723	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	PHACTR3_ENST00000395639.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000541461.1_Missense_Mutation_p.E45K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E45K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E83K	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	86						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAAGAAAAACGAAAAACTGAA	0.577		NA											False	0	True	20:58318299	0
TEX15	56154	broad.mit.edu	37	8	30705431	30705431	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:30705431C>T	ENST00000256246.2	-	1	1177	c.1103G>A	c.(1102-1104)gGg>gAg	p.G368E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	368										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTTATTTTCCCCAATTTCAG	0.383		NA											False	0	True	8:30705431	0
SEL1L2	80343	broad.mit.edu	37	20	13850192	13850192	+	Silent	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:13850192T>C	ENST00000284951.5	-	14	1286	c.1212A>G	c.(1210-1212)aaA>aaG	p.K404K	SEL1L2_ENST00000378072.5_Silent_p.K404K|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	404						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGGGCCACCCTTTTTCCGCAG	0.393		NA											False	0	True	20:13850192	0
SLC26A6	65010	broad.mit.edu	37	3	48667366	48667366	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:48667366C>T	ENST00000358747.6	-	12	1655	c.1405G>A	c.(1405-1407)Gac>Aac	p.D469N	SLC26A6_ENST00000395550.2_Missense_Mutation_p.D490N|SLC26A6_ENST00000383733.3_Missense_Mutation_p.D490N|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D383N|SLC26A6_ENST00000420764.2_Missense_Mutation_p.D490N|SLC26A6_ENST00000455886.2_Missense_Mutation_p.D454N	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6	NA									SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		AAGCCAAGGTCCAGGTTCAGC	0.607		NA											False	0	False	3:48667366	0
ABCC2	1244	broad.mit.edu	37	10	101611304	101611304	+	Silent	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:101611304T>C	ENST00000370449.4	+	32	4667	c.4554T>C	c.(4552-4554)ccT>ccC	p.P1518P		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1518	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCGGCAGCCCTGAAGAACTGC	0.448		NA											False	0	True	10:101611304	0
PDZD4	57595	broad.mit.edu	37	X	153069209	153069209	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:153069209C>T	ENST00000164640.4	-	8	2100	c.1909G>A	c.(1909-1911)Gcc>Acc	p.A637T	PDZD4_ENST00000544474.1_Missense_Mutation_p.A528T|PDZD4_ENST00000393758.2_Missense_Mutation_p.A562T	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	637						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCGCTTGGCCACGTAGCGG	0.701		NA											False	0	False	X:153069209	0
POLR3C	10623	broad.mit.edu	37	1	145608249	145608249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:145608249G>A	ENST00000334163.3	-	4	608	c.448C>T	c.(448-450)Cga>Tga	p.R150*	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Nonsense_Mutation_p.R150*	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	150					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TCTGCCAGTCGCACAAATGTG	0.498		NA											False	0	False	1:145608249	0
GDF7	151449	broad.mit.edu	37	2	20870689	20870689	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:20870689C>T	ENST00000272224.3	+	2	1433	c.857C>T	c.(856-858)gCc>gTc	p.A286V		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	286					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGATCCGCGCCCAGGCCCGC	0.736		NA											False	0	True	2:20870689	0
MAATS1	89876	broad.mit.edu	37	3	119428733	119428733	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:119428733C>T	ENST00000273390.5	+	5	568	c.491C>T	c.(490-492)gCc>gTc	p.A164V	MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V	NM_033364.3	NP_203528			MYCBP-associated, testis expressed 1	NA											NA						GTTGTTTATGCCGTATCCAAG	0.328		NA											False	0	False	3:119428733	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128735	45128735	+	RNA	SNP	T	T	C	rs138973461	by1000genomes	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:45128735T>C	ENST00000575173.1	-	0	418										NA											NA						GAAATACTAATGATTTTTATT	0.323		NA											False	0	False	17:45128735	0
CNNM4	26504	broad.mit.edu	37	2	97426885	97426885	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:97426885G>A	ENST00000377075.2	+	1	247	c.149G>A	c.(148-150)aGg>aAg	p.R50K		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	50					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GTGGGCATGAGGCTGGCGAGC	0.701		NA											False	0	False	2:97426885	0
TACC1	6867	broad.mit.edu	37	8	38677137	38677137	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:38677137G>A	ENST00000379931.3	+	3	754	c.375G>A	c.(373-375)caG>caA	p.Q125Q	TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Silent_p.Q80Q|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000317827.4_Silent_p.Q125Q|TACC1_ENST00000520340.1_Silent_p.Q89Q|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000443286.2_Silent_p.Q141Q|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000522752.1_Intron			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	125					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGCCACAGCAGGCCATTGACT	0.383		NA											False	0	False	8:38677137	0
DET1	55070	broad.mit.edu	37	15	89074164	89074164	+	Missense_Mutation	SNP	C	C	T	rs138430376	by1000genomes	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:89074164C>T	ENST00000564406.1	-	3	966	c.806G>A	c.(805-807)cGc>cAc	p.R269H	DET1_ENST00000558413.1_3'UTR|DET1_ENST00000268148.8_Missense_Mutation_p.R258H|DET1_ENST00000444300.1_Missense_Mutation_p.R269H	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	258						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ATAGCAAAAGCGGCCAATGGT	0.507		NA											False	0	False	15:89074164	0
CTD-2207O23.3	0	broad.mit.edu	37	19	7523499	7523499	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:7523499G>A	ENST00000593531.1	+	12	1592	c.1592G>A	c.(1591-1593)cGg>cAg	p.R531Q	ARHGEF18_ENST00000359920.6_Silent_p.P573P|ARHGEF18_ENST00000319670.9_Silent_p.P415P						NA											NA						TGCAAGGGCCGGAGATGTATG	0.562		NA											False	0	False	19:7523499	0
NLRP8	126205	broad.mit.edu	37	19	56466067	56466067	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:56466067G>A	ENST00000291971.3	+	3	714	c.643G>A	c.(643-645)Gga>Aga	p.G215R	NLRP8_ENST00000590542.1_Missense_Mutation_p.G215R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	215	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCTGGGATCGGAAAAACAAT	0.527		NA											False	0	False	19:56466067	0
UPF3A	65110	broad.mit.edu	37	13	115070324	115070324	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr13:115070324G>A	ENST00000375299.3	+	10	1419	c.1363G>A	c.(1363-1365)Gga>Aga	p.G455R	UPF3A_ENST00000351487.5_Missense_Mutation_p.G422R|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	455					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		AGAGTGTGGCGGAAACAGGAG	0.592		NA											False	0	False	13:115070324	0
PLXNA1	5361	broad.mit.edu	37	3	126732924	126732924	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:126732924G>A	ENST00000251772.4	+	10	2375	c.2306G>A	c.(2305-2307)gGc>gAc	p.G769D	PLXNA1_ENST00000393409.2_Missense_Mutation_p.G792D			Q9UIW2	PLXA1_HUMAN	plexin A1	792					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GTGTGGAACGGCAACTTTGTC	0.632		NA											False	0	False	3:126732924	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372765	74372765	+	RNA	SNP	T	T	C	rs2549261	by1000genomes	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:74372765T>C	ENST00000429810.2	-	0	1431										NA											NA						GAAGTCCCAGTGGGGAACCTT	0.502		NA											False	0	True	16:74372765	0
SCRIB	23513	broad.mit.edu	37	8	144895217	144895217	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:144895217G>A	ENST00000356994.2	-	7	631	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	SCRIB_ENST00000320476.3_Silent_p.L209L|SCRIB_ENST00000377533.3_Silent_p.L128L	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	209	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGTGCTGACAGCTGGTTCCGG	0.622		NA											False	0	False	8:144895217	0
ABCA7	10347	broad.mit.edu	37	19	1046233	1046233	+	Missense_Mutation	SNP	T	T	G			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:1046233T>G	ENST00000263094.6	+	13	1681	c.1450T>G	c.(1450-1452)Tgg>Ggg	p.W484G	ABCA7_ENST00000433129.1_Missense_Mutation_p.W484G|ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Missense_Mutation_p.W346G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	484					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCAGGTTTTGGGACCCTGG	0.642		NA											False	0	True	19:1046233	0
GALNT10	55568	broad.mit.edu	37	5	153760011	153760011	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr5:153760011G>A	ENST00000297107.6	+	6	895	c.758G>A	c.(757-759)cGc>cAc	p.R253H	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	253	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCTTCAGACCGCATTGCTCGG	0.502		NA											False	0	False	5:153760011	0
TTN	7273	broad.mit.edu	37	2	179398331	179398331	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:179398331G>T	ENST00000589042.1	-	358	103235	c.103011C>A	c.(103009-103011)aaC>aaA	p.N34337K	TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N31769K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N32696K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N25464K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N25397K|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N25272K|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32696	Ig-like 152.						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)			CACCATATTTGTTCCTTGCCA	0.413		NA											False	0	True	2:179398331	0
NSRP1	84081	broad.mit.edu	37	17	28511942	28511942	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:28511942G>A	ENST00000247026.5	+	7	990	c.927G>A	c.(925-927)acG>acA	p.T309T	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	309	His-rich.				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GATCACGAACGTCGAGAGGAC	0.493		NA											False	0	False	17:28511942	0
CELSR2	1952	broad.mit.edu	37	1	109808777	109808777	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:109808777C>T	ENST00000271332.3	+	15	6023	c.5962C>T	c.(5962-5964)Cgt>Tgt	p.R1988C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1988					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTGGTGGCCCCGTACCCGCTT	0.617		NA											False	0	True	1:109808777	0
ZNF513	130557	broad.mit.edu	37	2	27602967	27602967	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:27602967G>T	ENST00000323703.6	-	2	402	c.204C>A	c.(202-204)gaC>gaA	p.D68E	ZNF513_ENST00000407879.1_Missense_Mutation_p.D6E	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	68	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTCCGAGTCTCTCTCGA	0.557		NA											False	0	True	2:27602967	0
HK1	3098	broad.mit.edu	37	10	71119706	71119706	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:71119706C>T	ENST00000448642.2	+	8	774	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	HK1_ENST00000359426.6_Missense_Mutation_p.R94W|HK1_ENST00000298649.3_Missense_Mutation_p.R93W|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.R82W|HK1_ENST00000404387.2_Missense_Mutation_p.R98W			P19367	HXK1_HUMAN	hexokinase 1	94	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TCGAATTCTGCGGGTGCAAGT	0.478		NA											False	0	True	10:71119706	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043725	26043725	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:26043725C>T	ENST00000357905.2	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	54					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGATGAGATGCCGGTGTCGGG	0.547		NA											False	0	False	6:26043725	0
RBP1	5947	broad.mit.edu	37	3	139257784	139257784	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:139257784G>A	ENST00000483943.2	-	2	277	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000492918.1_Missense_Mutation_p.R93C|RBP1_ENST00000232219.2_Missense_Mutation_p.R93C	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	31						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	GCGATTTTGCGCAAGGCCACA	0.552		NA											False	0	False	3:139257784	0
TIGD4	201798	broad.mit.edu	37	4	153691501	153691501	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:153691501C>T	ENST00000304337.2	-	2	1476	c.656G>A	c.(655-657)gGc>gAc	p.G219D		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	219	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CATGTTTGTGCCAACCACCAG	0.383		NA											False	0	False	4:153691501	0
TTC16	158248	broad.mit.edu	37	9	130493021	130493021	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:130493021G>A	ENST00000373289.3	+	14	2039	c.1959G>A	c.(1957-1959)acG>acA	p.T653T	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	653							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGTTGAAGACGCAATCCTCGG	0.567		NA											False	0	False	9:130493021	0
SMAD4	4089	broad.mit.edu	37	18	48593400	48593400	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr18:48593400G>A	ENST00000342988.3	+	10	1689	c.1151G>A	c.(1150-1152)gGc>gAc	p.G384D	SMAD4_ENST00000398417.2_Missense_Mutation_p.G384D|SMAD4_ENST00000588745.1_Missense_Mutation_p.G288D	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	384	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TTGCACATAGGCAAAGGTGTG	0.348		NA											False	0	False	18:48593400	0
LRRN1	57633	broad.mit.edu	37	3	3888153	3888153	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:3888153G>A	ENST00000319331.3	+	2	2589	c.1828G>A	c.(1828-1830)Gta>Ata	p.V610I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	610	Fibronectin type-III.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAAGTCATGCGTAAATGTCAC	0.458		NA											False	0	False	3:3888153	0
WFIKKN2	124857	broad.mit.edu	37	17	48917415	48917415	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:48917415C>T	ENST00000311378.4	+	2	1294	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R163W	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	256	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGTGGTCATGCGGCCCAACCA	0.602		NA											False	0	False	17:48917415	0
PKD1	5310	broad.mit.edu	37	16	2160250	2160250	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:2160250C>T	ENST00000262304.4	-	15	5126	c.4918G>A	c.(4918-4920)Ggt>Agt	p.G1640S	PKD1_ENST00000423118.1_Missense_Mutation_p.G1640S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1640	PKD 12.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAGCGGCCACCGCCCACCACC	0.617		NA											False	0	False	16:2160250	0
ZNF584	201514	broad.mit.edu	37	19	58928643	58928643	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:58928643G>A	ENST00000306910.4	+	4	1281	c.758G>A	c.(757-759)cGc>cAc	p.R253H	ZNF584_ENST00000593920.1_Missense_Mutation_p.R208H|ZNF584_ENST00000599238.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		ACCTTCAACCGCAAAGACGCA	0.463		NA											False	0	False	19:58928643	0
CPAMD8	27151	broad.mit.edu	37	19	17038840	17038840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:17038840G>A	ENST00000443236.1	-	25	3521	c.3490C>T	c.(3490-3492)Cga>Tga	p.R1164*		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1117						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCGGTGGCTCGCTCAGACCCA	0.617		NA											False	0	True	19:17038840	0
PKP1	5317	broad.mit.edu	37	1	201252975	201252975	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:201252975G>A	ENST00000263946.3	+	1	396	c.145G>A	c.(145-147)Gtc>Atc	p.V49I	PKP1_ENST00000352845.3_Missense_Mutation_p.V49I|PKP1_ENST00000367324.3_Missense_Mutation_p.V49I	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	49					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GATGATGACCGTCAAGCGGCA	0.612		NA											False	0	False	1:201252975	0
CCDC74A	90557	broad.mit.edu	37	2	132290319	132290319	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:132290319G>A	ENST00000295171.6	+	5	979	c.841G>A	c.(841-843)Gag>Aag	p.E281K	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.E215K	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	281										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GCTCATCCGCGAGCTGTGGAA	0.677		NA											False	0	False	2:132290319	0
FLG	2312	broad.mit.edu	37	1	152282617	152282617	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:152282617G>A	ENST00000368799.1	-	3	4780	c.4745C>T	c.(4744-4746)gCg>gTg	p.A1582V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1582	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGGACCCCGCTGATTCTCC	0.607		NA							Ichthyosis				False	0	True	1:152282617	0
SMEK1	55671	broad.mit.edu	37	14	91931722	91931722	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr14:91931722C>T	ENST00000554684.1	-	11	2159	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	SMEK1_ENST00000554943.1_Missense_Mutation_p.E568K|SMEK1_ENST00000337238.4_Missense_Mutation_p.E555K|SMEK1_ENST00000555462.1_Missense_Mutation_p.E329K|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000428424.2_Missense_Mutation_p.E329K	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	568						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TTGTAAAACTCATCTTTTAAT	0.358		NA											False	0	False	14:91931722	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
THOC1	9984	broad.mit.edu	37	18	264052	264052	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr18:264052G>A	ENST00000261600.6	-	4	237	c.230C>T	c.(229-231)tCt>tTt	p.S77F	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	77					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AATAGCAAGAGAAATAATAGC	0.343		NA											False	0	True	18:264052	0
TMEM180	79847	broad.mit.edu	37	10	104235646	104235646	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:104235646T>C	ENST00000238936.4	+	10	1696	c.1459T>C	c.(1459-1461)Tcc>Ccc	p.S487P	TMEM180_ENST00000366277.2_Missense_Mutation_p.S216P	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	487						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTTCACCTGGTCCCAGTTCAC	0.627		NA											False	0	True	10:104235646	0
ADAM2	2515	broad.mit.edu	37	8	39624518	39624518	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:39624518G>A	ENST00000265708.4	-	14	1459	c.1356C>T	c.(1354-1356)tgC>tgT	p.C452C	ADAM2_ENST00000347580.4_Silent_p.C433C|ADAM2_ENST00000379853.2_Silent_p.C326C|ADAM2_ENST00000521880.1_Silent_p.C452C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	452	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CAGGGAGGTCGCATTCTTCAA	0.398		NA											False	0	False	8:39624518	0
NOA1	84273	broad.mit.edu	37	4	57829747	57829747	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:57829747G>A	ENST00000264230.4	-	7	3203	c.1966C>T	c.(1966-1968)Cgg>Tgg	p.R656W		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	656							GTP binding				NA						AGAGGGGGCCGGACGGTCAAA	0.458		NA											False	0	False	4:57829747	0
OR2M5	127059	broad.mit.edu	37	1	248309257	248309257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:248309257C>T	ENST00000366476.1	+	1	808	c.808C>T	c.(808-810)Cag>Tag	p.Q270*		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTCCCCTATGCAGGACAAGCT	0.512		NA											False	0	False	1:248309257	0
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468		NA											False	0	False	7:72398976	0
BEX4	56271	broad.mit.edu	37	X	102471391	102471391	+	Missense_Mutation	SNP	C	C	T	rs139178618	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:102471391C>T	ENST00000372695.5	+	3	545	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	BEX4_ENST00000372691.3_Missense_Mutation_p.R104C	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	104						cytoplasm|nucleus				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						GCACTATATGCGCTTCCAAAC	0.418		NA											False	0	False	X:102471391	0
C16orf62	57020	broad.mit.edu	37	16	19680556	19680556	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:19680556C>T	ENST00000438132.3	+	27	2611	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	C16orf62_ENST00000251143.5_Missense_Mutation_p.R766W|C16orf62_ENST00000542263.1_Missense_Mutation_p.R762W|C16orf62_ENST00000448695.1_Missense_Mutation_p.R616W|C16orf62_ENST00000543152.1_Missense_Mutation_p.R515W|C16orf62_ENST00000417362.2_Missense_Mutation_p.R673W	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	766						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGGGAAGATGCGGCCATCGGA	0.418		NA											False	0	False	16:19680556	0
TICAM1	148022	broad.mit.edu	37	19	4816396	4816396	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:4816396G>A	ENST00000248244.5	-	2	2223	c.1994C>T	c.(1993-1995)aCg>aTg	p.T665M		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	665	Pro-rich.|Sufficient to induce apoptosis.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGGTGAGGCCGTAGGGAAGGC	0.662		NA											False	0	False	19:4816396	0
DPAGT1	1798	broad.mit.edu	37	11	118971495	118971495	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:118971495G>A	ENST00000409993.2	-	5	1892	c.341C>T	c.(340-342)gCg>gTg	p.A114V	DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Missense_Mutation_p.A114V|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A7V			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	114					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TACATCATCCGCAAAGCCCAG	0.567		NA									OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:118971495	0
OR10K1	391109	broad.mit.edu	37	1	158435396	158435396	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:158435396C>T	ENST00000289451.2	+	1	125	c.45C>T	c.(43-45)ctC>ctT	p.L15L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCGTCGTCCTCGGCTTCTCAT	0.507		NA											False	0	False	1:158435396	0
KRT24	192666	broad.mit.edu	37	17	38859689	38859689	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:38859689C>A	ENST00000264651.2	-	1	313	c.257G>T	c.(256-258)gGa>gTa	p.G86V		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	86	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCCACCAAATCCTGTCCCAGA	0.582		NA											False	0	False	17:38859689	0
TPD52	7163	broad.mit.edu	37	8	80954871	80954871	+	Missense_Mutation	SNP	T	T	G			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:80954871T>G	ENST00000379096.5	-	5	533	c.419A>C	c.(418-420)aAg>aCg	p.K140T	TPD52_ENST00000517427.1_Missense_Mutation_p.K189T|TPD52_ENST00000537855.1_Missense_Mutation_p.K180T|TPD52_ENST00000379097.3_Missense_Mutation_p.K180T|TPD52_ENST00000448733.2_Missense_Mutation_p.K194T|TPD52_ENST00000520527.1_Missense_Mutation_p.K203T|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000519303.2_Missense_Mutation_p.K16T|TPD52_ENST00000518937.1_Missense_Mutation_p.K163T	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52	180					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GTTTTCGACCTTTTCTTCAAA	0.308		NA											False	0	True	8:80954871	0
CDC42BPB	9578	broad.mit.edu	37	14	103434632	103434632	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr14:103434632C>A	ENST00000361246.2	-	16	2592	c.2304G>T	c.(2302-2304)atG>atT	p.M768I		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	768					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CATCAAACAGCATCGCTCTTT	0.368		NA											False	0	False	14:103434632	0
CCND2	894	broad.mit.edu	37	12	4387932	4387932	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:4387932G>A	ENST00000261254.3	+	3	687	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	140	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CCAGGAGTGGGAACTGGTGGT	0.562		NA	T	IGL@	"""NHL,CLL"""								False	0	True	12:4387932	0
TGFBR1	7046	broad.mit.edu	37	9	101911492	101911492	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:101911492G>A	ENST00000374994.4	+	9	1534	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	TGFBR1_ENST00000374990.2_Missense_Mutation_p.E396K|TGFBR1_ENST00000552516.1_Missense_Mutation_p.E477K|TGFBR1_ENST00000550253.1_Missense_Mutation_p.E404K	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	473	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AATTATGAGAGAATGTTGGTA	0.348		NA											False	0	True	9:101911492	0
OR5K1	26339	broad.mit.edu	37	3	98188534	98188534	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:98188534C>T	ENST00000332650.5	+	1	211	c.114C>T	c.(112-114)acC>acT	p.T38T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T38T(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCTGATCACCGTGGTGGGGA	0.433		NA											False	0	False	3:98188534	0
SEMA4F	10505	broad.mit.edu	37	2	74906803	74906803	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:74906803G>A	ENST00000357877.2	+	14	1929	c.1780G>A	c.(1780-1782)Gca>Aca	p.A594T	SEMA4F_ENST00000339773.5_Missense_Mutation_p.A439T|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	594	Ig-like C2-type.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CTCAGCATGGGCATCCTGTGT	0.597		NA											False	0	True	2:74906803	0
RHOC	389	broad.mit.edu	37	1	113244218	113244218	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:113244218G>A	ENST00000285735.2	-	6	1735	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	RHOC_ENST00000339083.7_Missense_Mutation_p.R176W|RHOC_ENST00000369632.2_Missense_Mutation_p.R176W|RHOC_ENST00000369642.3_Missense_Mutation_p.R176W|RHOC_ENST00000369638.2_Missense_Mutation_p.R176W|RHOC_ENST00000369637.1_Missense_Mutation_p.R176W|RHOC_ENST00000369636.2_Silent_p.L155L|RHOC_ENST00000369633.2_Missense_Mutation_p.R176W			P08134	RHOC_HUMAN	ras homolog family member C	176					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCCAGCCCGAGTGGCCATC	0.617		NA											False	0	True	1:113244218	0
PIK3CG	5294	broad.mit.edu	37	7	106508683	106508683	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:106508683G>A	ENST00000359195.3	+	2	987	c.677G>A	c.(676-678)cGc>cAc	p.R226H	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R226H|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R226H	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	226					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTCATTCACCGCAGCACCACC	0.572		NA											False	0	False	7:106508683	0
MTM1	4534	broad.mit.edu	37	X	149832023	149832023	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:149832023C>T	ENST00000370396.2	+	14	1639	c.1585C>T	c.(1585-1587)Cgt>Tgt	p.R529C	MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.R414C|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.R492C	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	529	Myotubularin phosphatase.				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)					TGCCAGTATGCGTCACTTGGA	0.358		NA											False	0	False	X:149832023	0
UGGT1	56886	broad.mit.edu	37	2	128941276	128941276	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:128941276G>A	ENST00000375990.3	+	38	4603	c.4200G>A	c.(4198-4200)aaG>aaA	p.K1400K	UGGT1_ENST00000259253.6_Silent_p.K1424K			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1424	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATCTGAAGAAGTTTAGGAAAA	0.423		NA											False	0	True	2:128941276	0
