Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TUBB3	10381	broad.mit.edu	37	16	90001818	90001818	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:90001818G>A	ENST00000304984.5	+	3	3038	c.743G>A	c.(742-744)cGc>cAc	p.R248H	TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Missense_Mutation_p.R667H|TUBB3_ENST00000554444.1_Missense_Mutation_p.R248H|TUBB3_ENST00000315491.7_Missense_Mutation_p.R320H			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	320					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TTCCGGGGCCGCATGTCCATG	0.632000													6	630					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.687000													4	151					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													9	414					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.353000													7	1305					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.343000													11	360					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A23V|SCN1A_ENST00000375405.3_Missense_Mutation_p.A23V|SCN1A_ENST00000303395.4_Missense_Mutation_p.A23V|AC010127.3_ENST00000599041.1_RNA	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	0.423000													6	693					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.637000													4	144					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.662000													12	176					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.488000													8	254					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.517000													18	485					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.572000													6	192					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.408000									Kartagener syndrome				12	639					0	0	1	0	0
RP11-178C3.2	0	broad.mit.edu	37	17	58066651	58066651	+	RNA	SNP	C	C	T	rs144367363	by1000genomes	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333000													4	73					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.413000													5	398					0	0	1	0	0
DPY19L2P2	0	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750																											ACAGCTTGACACTTGCCATTG	0.373000													7	274					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.502000													4	78					1.024e-07	1.05661e-07	1	1	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333535.4_Missense_Mutation_p.V1340I|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1339I|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1340I|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1339I	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	0.577000													8	180					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000444780.2_Missense_Mutation_p.R209Q|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_ENST00000418521.2_Missense_Mutation_p.R138Q|TCP11_ENST00000373974.4_Missense_Mutation_p.R168Q			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	0.453000													24	562					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.463000													7	71					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000309049.4_Missense_Mutation_p.A82V|PBLD_ENST00000336578.1_Missense_Mutation_p.A49V|PBLD_ENST00000277795.4_Intron|PBLD_ENST00000432941.1_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	0.423000													5	200					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000478852.1_Intron|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	0.607000													9	759					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_079021.3	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	0.438000													5	407					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.667000													5	142					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													5	530					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414295	20414295	+	Silent	SNP	G	G	A	rs62637688		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:20414295G>A	ENST00000380338.4	-	5	835	c.549C>T	c.(547-549)agC>agT	p.S183S	MLLT3_ENST00000429426.2_Silent_p.S180S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	183	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.522000			T	MLL	ALL								5	371					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.632000													5	515					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													10	258					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_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	0.532000		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)			10	171					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541461.1_Missense_Mutation_p.E45K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E45K|PHACTR3_ENST00000395639.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E83K	NM_080672.3	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	0.577000													9	225					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.383000													14	369					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													12	163					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.393000													4	272					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383733.3_Missense_Mutation_p.D490N|SLC26A6_ENST00000455886.2_Missense_Mutation_p.D454N|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D383N|SLC26A6_ENST00000420764.2_Missense_Mutation_p.D490N|SLC26A6_ENST00000395550.2_Missense_Mutation_p.D490N	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										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	0.607000													12	205					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000383.1	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	0.448000													5	551					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393758.2_Missense_Mutation_p.A562T|PDZD4_ENST00000544474.1_Missense_Mutation_p.A528T	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	0.701000													5	446					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.498000													5	296					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.736000													4	39					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													7	356					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_203528.2			MYCBP-associated, testis expressed 1																		GTTGTTTATGCCGTATCCAAG	0.328000													5	401					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:45128735T>C	ENST00000575173.1	-	0	418																											GAAATACTAATGATTTTTATT	0.323000													8	459					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.701000													7	152					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													6	421					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000443286.2_Silent_p.Q141Q|TACC1_ENST00000317827.4_Silent_p.Q125Q|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520340.1_Silent_p.Q89Q|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000518415.1_Silent_p.Q80Q			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	0.383000													10	366					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371196	240371196	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:240371196G>A	ENST00000319653.9	+	5	3314	c.3084G>A	c.(3082-3084)gcG>gcA	p.A1028A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1028	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCGGAGCGGGCATACCCC	0.741000													4	127					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:77354692G>A	ENST00000451710.3	-	33	5683	c.5446C>T	c.(5446-5448)Cgg>Tgg	p.R1816W	TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCCATGTCCGCACAACCTCA	0.488000													6	712					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731000													5	110					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000444300.1_Missense_Mutation_p.R269H|DET1_ENST00000558413.1_3'UTR|DET1_ENST00000268148.8_Missense_Mutation_p.R258H	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	0.507000													29	249					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000319670.9_Silent_p.P415P|ARHGEF18_ENST00000359920.6_Silent_p.P573P																							TGCAAGGGCCGGAGATGTATG	0.562000													4	258					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.527000													11	294					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.592000													4	284					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:123780522G>A	ENST00000420886.2	-	31	4114	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372							ATP binding|DNA binding|hydrolase activity	p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433000													10	910					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43783268	43783268	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:43783268C>T	ENST00000372476.3	+	16	2733	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	885	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTGACTTTGCGGGAGAACTG	0.502000													7	949					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:126732924G>A	ENST00000393409.2	+	10	2375	c.2375G>A	c.(2374-2376)gGc>gAc	p.G792D	PLXNA1_ENST00000251772.4_Missense_Mutation_p.G769D	NM_032242.3	NP_115618.3	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	0.632000													6	630					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43031337	43031337	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:43031337C>T	ENST00000161559.6	-	2	414	c.280G>A	c.(280-282)Gca>Aca	p.A94T	LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	94	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CCGCTGTTTGCGGGCCCTGGG	0.488000													7	1036					0	0	1	0	0
DPY19L2P2	0	broad.mit.edu	37	7	102825946	102825946	+	RNA	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:102825946C>T	ENST00000312132.4	-	0	3751																											GACAGCTTGACACTTGCCATT	0.373000													6	277					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													4	113					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:74372765T>C	ENST00000429810.2	-	0	1431																											GAAGTCCCAGTGGGGAACCTT	0.502000													5	158					0	0	1	0	0
RCOR1	23186	broad.mit.edu	37	14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr14:103174893G>A	ENST00000262241.6	+	6	978	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463000													9	930					0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27324320	27324320	+	Missense_Mutation	SNP	C	C	T	rs111421729		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:27324320C>T	ENST00000402394.1	-	6	1047	c.779G>A	c.(778-780)gGg>gAg	p.G260E	CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.G260E|CGREF1_ENST00000405600.1_Missense_Mutation_p.G260E|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.G382E	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	258					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCTGGCCCCCAGCTTCCCC	0.692000													5	434					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547000													5	382					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_874365.3	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	0.622000													3	22					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.642000													5	701					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H|GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR	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	0.502000													5	583					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642000													5	287					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N25397K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N32696K|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N25272K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N31769K|TTN_ENST00000342175.6_Missense_Mutation_p.N25464K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_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	0.413000													8	245					3.09899e-07	3.17744e-07	1	1	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.493000													12	205					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.617000													15	324					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													7	266					0.0381472	0.0383842	1	1	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.557000													34	888					3.90053e-15	4.07668e-15	1	1	0
PRSS3P2	0	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													4	103					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404387.2_Missense_Mutation_p.R98W|HK1_ENST00000360289.2_Missense_Mutation_p.R82W|HK1_ENST00000298649.3_Missense_Mutation_p.R93W|HK1_ENST00000359426.6_Missense_Mutation_p.R94W|HK1_ENST00000494253.1_3'UTR			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	0.478000													6	437					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.547000													6	898					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RBP1_ENST00000232219.2_Missense_Mutation_p.R93C|RBP1_ENST00000492918.1_Missense_Mutation_p.R93C|RP11-319G6.1_ENST00000515247.1_RNA	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	0.552000													5	459					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.383000													5	631					0	0	1	0	0
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642000													4	261					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.567000													4	192					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.348000													22	353					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.458000													5	495					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													5	114					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.602000													5	283					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001009944.2	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	0.617000													21	174					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.463000													5	277					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.617000													8	291					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567000													6	812					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			9	195					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367324.3_Missense_Mutation_p.V49I|PKP1_ENST00000352845.3_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	0.612000													8	210					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409856.3_Missense_Mutation_p.E215K|CCDC74A_ENST00000467992.2_3'UTR	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	0.677000													10	342					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000393498.2_Silent_p.Q159Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													6	220					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.607000									Ichthyosis				6	892					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000337238.4_Missense_Mutation_p.E555K|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000428424.2_Missense_Mutation_p.E329K|SMEK1_ENST00000555462.1_Missense_Mutation_p.E329K|SMEK1_ENST00000554943.1_Missense_Mutation_p.E568K			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	0.358000													10	292					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52272573	52272573	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:52272573G>A	ENST00000354831.7	-	20	2396	c.2207C>T	c.(2206-2208)aCg>aTg	p.T736M	NRD1_ENST00000352171.7_Missense_Mutation_p.T668M|NRD1_ENST00000544028.1_Missense_Mutation_p.T536M|NRD1_ENST00000539524.1_Missense_Mutation_p.T604M|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	667					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGCCTTCAACGTAAAGTCCGT	0.373000													6	500					0	0	1	0	0
FAM102A	399665	broad.mit.edu	37	9	130712784	130712784	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:130712784G>A	ENST00000373095.1	-	4	707	c.332C>T	c.(331-333)gCg>gTg	p.A111V	FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	111										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GCCCGAGCCCGCAAACTCGGC	0.632000													7	315					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39735383	39735383	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:39735383C>T	ENST00000395670.3	-	14	2264	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000361418.5_Silent_p.E615E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E602D(1)|p.E602E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				cctcctcctcctcttcttcat	0.398000													4	153					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_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	0.348000	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)			16	333					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.343000													4	101					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.627000													4	146					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.398000													7	607					0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69202911	69202911	+	Silent	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:69202911T>C	ENST00000344157.4	-	4	1052	c.717A>G	c.(715-717)gaA>gaG	p.E239E	YTHDC1_ENST00000355665.3_Silent_p.E239E|YTHDC1_ENST00000579690.1_Silent_p.E239E	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	239	Glu-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						cctcctcctcttcctcctcct	0.473000													5	135					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:24993374C>A	ENST00000323848.9	+	13	2012	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.542000													4	198					0.000602214	0.000609742	1	1	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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										AGAGGGGGCCGGACGGTCAAA	0.458000													5	525					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.512000													21	879					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109371685	109371685	+	Missense_Mutation	SNP	A	A	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:109371685A>T	ENST00000283195.6	+	17	2562	c.2436A>T	c.(2434-2436)aaA>aaT	p.K812N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	812					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						CTTTACTGAAAATGATTTGCC	0.348000													9	893					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S	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	0.468000													6	1152					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000													5	195					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075521	76075521	+	RNA	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:76075521G>A	ENST00000395215.3	+	0	1161																											gagaggctgcgaaagcaggaa	0.607000													6	905					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44892133	44892133	+	Missense_Mutation	SNP	C	C	T	rs140033872	by1000genomes	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:44892133C>T	ENST00000330997.4	-	4	338	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M|ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGAAGGTTCACGATATAATCC	0.418000													8	571					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.418000													19	564					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542263.1_Missense_Mutation_p.R762W|C16orf62_ENST00000448695.1_Missense_Mutation_p.R616W|C16orf62_ENST00000417362.2_Missense_Mutation_p.R673W|C16orf62_ENST00000543152.1_Missense_Mutation_p.R515W|C16orf62_ENST00000251143.5_Missense_Mutation_p.R766W	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	0.418000													5	297					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.662000													5	205					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354202.4_Missense_Mutation_p.A114V|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A7V|DPAGT1_ENST00000445653.1_5'UTR			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	0.567000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	185					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.507000													12	231					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.582000													17	511					1.56452e-12	1.6247e-12	1	1	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000519303.2_Missense_Mutation_p.K16T|TPD52_ENST00000520527.1_Missense_Mutation_p.K203T|TPD52_ENST00000518937.1_Missense_Mutation_p.K163T|TPD52_ENST00000523395.1_5'UTR|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	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	0.308000													11	274					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.368000													7	411					2.0095e-06	2.04741e-06	1	1	0
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:12155673A>C	ENST00000602107.1	-	5	683	c.684T>G	c.(682-684)agT>agG	p.S228R	CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403000													6	963					0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63973881	63973881	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:63973881G>A	ENST00000398590.3	+	9	1795	c.1242G>A	c.(1240-1242)ccG>ccA	p.P414P	ATXN7_ENST00000538065.1_Silent_p.P414P|ATXN7_ENST00000487717.1_Silent_p.P414P|ATXN7_ENST00000484332.1_Silent_p.P269P|ATXN7_ENST00000295900.6_Silent_p.P414P	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	414	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGACCCGCATCCCGCCC	0.512000													6	805					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.562000			T	IGL@	"""NHL,CLL"""								8	338					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000552516.1_Missense_Mutation_p.E477K|TGFBR1_ENST00000374990.2_Missense_Mutation_p.E396K|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	0.348000													10	177					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.433000													21	736					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.A439T	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	0.597000													6	581					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369636.2_Silent_p.L155L|RHOC_ENST00000369637.1_Missense_Mutation_p.R176W|RHOC_ENST00000369638.2_Missense_Mutation_p.R176W|RHOC_ENST00000369633.2_Missense_Mutation_p.R176W|RHOC_ENST00000369642.3_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	0.617000													22	396					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002649.2	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	0.572000													5	475					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.R414C|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	0.358000													6	720					0	0	1	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	0.423000													5	177					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													10	197					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46559723	46559723	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr13:46559723G>A	ENST00000242848.4	-	10	1777	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R477W			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	477	Arg/Ser-rich.						nucleic acid binding|zinc ion binding	p.R477W(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTTGAGTCCCGCATGTCTCTG	0.527000													5	710					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:71346978T>C	ENST00000413702.1	+	4	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.					extracellular region	protein binding	p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000													5	447					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:6536011_6536013delCTC	ENST00000377748.1	-	4	855_857	c.358_360delGAG	c.(358-360)del	p.E120del	PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	272	---	---	---	---					
TMEM57	55219	broad.mit.edu	37	1	25775375	25775375	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:25775375delT	ENST00000374343.4	+	3	478	c.299delT	c.(298-300)ctfs	p.L100fs	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Frame_Shift_Del_p.L100fs	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	100						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		ATACAGTGGCTTTTTTTTGCT	0.343													9	461	---	---	---	---					
MAP7D1	55700	broad.mit.edu	37	1	36636626	36636626	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:36636626delC	ENST00000316156.4	+	2	554	c.101delC	c.(100-102)tcfs	p.S34fs	MAP7D1_ENST00000373151.2_Frame_Shift_Del_p.S34fs|MAP7D1_ENST00000373150.4_Frame_Shift_Del_p.S34fs			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	34	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GGTGACCCTTCCCCCCCACCA	0.597													7	458	---	---	---	---					
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:38078467_38078469delTGC	ENST00000356545.2	-	8	1537_1539	c.750_752delGCA	c.(748-753)caa>ca	p.QQ250del	RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621													7	685	---	---	---	---					
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cag>ca	p.QR1173del	PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1173					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631													7	596	---	---	---	---					
RP11-417J8.6	0	broad.mit.edu	37	1	142699961	142699961	+	RNA	DEL	T	T	-	rs74315780		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:142699961delT	ENST00000369381.2	-	0	2077																											tatatatatatatatCCAAAA	0.259													2	4	---	---	---	---					
BCAN	63827	broad.mit.edu	37	1	156626160	156626160	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:156626160delG	ENST00000329117.4	+	9	2365	c.2029delG	c.(2029-2031)ggfs	p.G678fs	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	678	EGF-like.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGGCTATGGGGGGGACCT	0.622													7	633	---	---	---	---					
CDC25A	993	broad.mit.edu	37	3	48200922	48200923	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:48200922_48200923delTC	ENST00000302506.3	-	14	1753_1754	c.1345_1346delGA	c.(1345-1347)tfs	p.D449fs	CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	449	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACCCAGGCGATCTCTCTCTCTC	0.515													7	402	---	---	---	---					
MAPKAPK3	7867	broad.mit.edu	37	3	50655079	50655080	+	Frame_Shift_Ins	INS	-	-	G			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:50655079_50655080insG	ENST00000446044.1	+	4	679_680	c.83_84insG	c.(82-84)cggfs	p.R28fs	MAPKAPK3_ENST00000357955.2_Frame_Shift_Ins_p.R28fs	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	28			P -> S (in a glioblastoma multiforme sample; somatic mutation).		activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	p.R31fs*47(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GGCGGTGCTCCGGGGGGGCGGC	0.698													7	498	---	---	---	---					
RP11-103G8.2	0	broad.mit.edu	37	3	150421899	150421900	+	RNA	INS	-	-	C	rs34009900	by1000genomes	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:150421899_150421900insC	ENST00000475393.1	+	0	20				RP11-103G8.2_ENST00000471093.1_RNA																							TTCTGTCCCTGCTCTTCAGCGT	0.545													12	13	---	---	---	---					
P2RY13	53829	broad.mit.edu	37	3	151046142	151046142	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:151046142delT	ENST00000325602.5	-	2	721	c.702delA	c.(700-702)aafs	p.K234fs	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	234						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AATCATATACTTTTTTTGCAA	0.338													9	332	---	---	---	---					
HAUS3	79441	broad.mit.edu	37	4	2242634	2242634	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:2242634delT	ENST00000243706.4	-	2	269	c.40delA	c.(40-42)ttfs	p.I14fs	HAUS3_ENST00000506763.1_Frame_Shift_Del_p.I14fs|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Frame_Shift_Del_p.I14fs	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	14					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGATAACCAATTTTTTTTAAT	0.353													7	521	---	---	---	---					
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:76539579_76539580insT	ENST00000429927.2	-	3	925_926	c.222_223insA	c.(220-225)aagatgfs	p.M75fs	CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	75	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322													9	300	---	---	---	---					
SORBS2	8470	broad.mit.edu	37	4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:186544620_186544622delGGT	ENST00000431808.1	-	14	2512_2514	c.1949_1951delACC	c.(1948-1953)cgc>c	p.HR650del	SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000437304.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522													7	316	---	---	---	---					
RP11-1023L17.1	0	broad.mit.edu	37	5	34182623	34182624	+	RNA	INS	-	-	A	rs79699565	by1000genomes	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr5:34182623_34182624insA	ENST00000514048.1	-	0	231																											aataaataaataaaaaatCTGG	0.436													5	7	---	---	---	---					
EGR1	1958	broad.mit.edu	37	5	137801633	137801635	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr5:137801633_137801635delCAG	ENST00000239938.4	+	1	455_457	c.183_185delCAG	c.(181-186)aac>aa	p.NS61del		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	61	Gly/Ser-rich.				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			gcggcagcaacagcagcagcagc	0.700													7	225	---	---	---	---					
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)del	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													8	307	---	---	---	---					
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)caa>ca	p.QQ102del	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	102	Poly-Gln.					cytoplasm|cytoskeleton	actin binding	p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.650													13	248	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													9	764	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													8	38	---	---	---	---					
RUNX2	860	broad.mit.edu	37	6	45390446	45390448	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:45390446_45390448delCAG	ENST00000371438.1	+	2	533_535	c.175_177delCAG	c.(175-177)del	p.Q71del	RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcaacagcagcagcagc	0.729													9	131	---	---	---	---					
ARHGAP18	93663	broad.mit.edu	37	6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aaafs	p.K163fs		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	163					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGTACTGTTTGTTTTTTTTCCT	0.421													7	816	---	---	---	---					
PDIA4	9601	broad.mit.edu	37	7	148702234	148702234	+	Splice_Site	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:148702234delT	ENST00000286091.4	-	9	1753	c.1522_splice	c.e9+1	p.K507_splice		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	507	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CGGGCTCACCTTTTTTGAAAG	0.612													7	806	---	---	---	---					
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aafs	p.K362fs		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478													7	906	---	---	---	---					
MLLT3	4300	broad.mit.edu	37	9	20413952	20413952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:20413952delT	ENST00000380338.4	-	5	1178	c.892delA	c.(892-894)ggfs	p.R298fs	MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CTCTTTTTCCTTTTTTTGGCT	0.393			T	MLL	ALL								9	668	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													9	14	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)del	p.L221del	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													8	200	---	---	---	---					
NUP98	4928	broad.mit.edu	37	11	3720389	3720389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:3720389delT	ENST00000324932.7	-	25	4352	c.3932delA	c.(3931-3933)acfs	p.N1311fs	NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1328					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACAGGGCTGTTTTTTTGGGT	0.512			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								9	1079	---	---	---	---					
INTS5	80789	broad.mit.edu	37	11	62416219	62416221	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:62416219_62416221delGCA	ENST00000330574.2	-	2	1383_1385	c.1331_1333delTGC	c.(1330-1335)cac>c	p.LH444del		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	444					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TTTTGCAGGTGCAGCAGCAGCAG	0.621													7	320	---	---	---	---					
RTN3	10313	broad.mit.edu	37	11	63525788	63525788	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:63525788delT	ENST00000354497.4	+	4	634	c.570delT	c.(568-570)gcfs	p.A190fs	RTN3_ENST00000540798.1_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000356000.3_3'UTR|RTN3_ENST00000377819.5_3'UTR|RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000339997.4_3'UTR	NM_001265591.1	NP_001252520.1	O95197	RTN3_HUMAN	reticulon 3	0					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CATTCCAAGCTTTTTTTTTAA	0.348													9	271	---	---	---	---					
MTL5	9633	broad.mit.edu	37	11	68480836	68480836	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:68480836delT	ENST00000255087.5	-	8	1243	c.1060delA	c.(1060-1062)ttfs	p.I354fs		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	354					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCCTTCCCAATTTTTGGCTGG	0.473													7	1585	---	---	---	---					
C1QTNF5	114902	broad.mit.edu	37	11	119210189	119210190	+	Frame_Shift_Ins	INS	-	-	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:119210189_119210190insC	ENST00000445041.2	-	15	3378_3379	c.583_584insG	c.(583-585)catfs	p.H195fs	C1QTNF5_ENST00000528368.1_Frame_Shift_Ins_p.H195fs|C1QTNF5_ENST00000525657.1_5'UTR|MFRP_ENST00000530681.1_3'UTR|MFRP_ENST00000555262.1_3'UTR	NM_001278431.1|NM_015645.3|NM_031433.2	NP_001265360.1|NP_056460.1|NP_113621.1	Q9BY79	MFRP_HUMAN	C1q and tumor necrosis factor related protein 5	147	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589													11	405	---	---	---	---					
SLCO1B3	28234	broad.mit.edu	37	12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)ttfs	p.F278fs	SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCCATACCATTTTTTTTCTT	0.363													9	478	---	---	---	---					
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433													10	965	---	---	---	---					
E2F7	144455	broad.mit.edu	37	12	77449827	77449827	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:77449827delT	ENST00000322886.7	-	3	412	c.177delA	c.(175-177)aafs	p.K59fs	E2F7_ENST00000416496.2_Frame_Shift_Del_p.K59fs	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	59					cell cycle	transcription factor complex	DNA binding|identical protein binding	p.K59fs*29(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGGAGTAAATTTTTTTTGCT	0.363													9	501	---	---	---	---					
KIAA1704	0	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr13:45580365_45580367delGAT	ENST00000361121.2	+	3	285_287	c.250_252delGAT	c.(250-252)del	p.D88del	KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA			Q8IXQ4	K1704_HUMAN		88	Poly-Asp.									breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		Ggatgatgacgatgatgatgatg	0.335													8	939	---	---	---	---					
ZIC2	7546	broad.mit.edu	37	13	100635045	100635045	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr13:100635045delT	ENST00000376335.3	+	1	1020	c.727delT	c.(727-729)ttfs	p.F244fs		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	244	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ccCCGGTGCCTTTTTCCGCTA	0.562													7	391	---	---	---	---					
EML1	2009	broad.mit.edu	37	14	100367334	100367334	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr14:100367334delT	ENST00000262233.6	+	9	1105	c.966delT	c.(964-966)ggfs	p.G322fs	EML1_ENST00000334192.4_Frame_Shift_Del_p.G341fs|EML1_ENST00000327921.9_Frame_Shift_Del_p.G310fs	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	322						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTGGAATAGGTTTTTTTGACC	0.428													7	634	---	---	---	---					
YY1	7528	broad.mit.edu	37	14	100705708	100705710	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr14:100705708_100705710delGAG	ENST00000262238.4	+	1	387_389	c.127_129delGAG	c.(127-129)del	p.E47del		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	47	Asp/Glu-rich (acidic).				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.E43delE(1)		cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				AGTggtgggcgaggaggaggagg	0.719													7	75	---	---	---	---					
FAN1	22909	broad.mit.edu	37	15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aafs	p.K11fs	FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage					10	633	---	---	---	---					
FAM63B	54629	broad.mit.edu	37	15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)del	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACAAGCAGCAGCTGCTGCTGCTG	0.468													8	464	---	---	---	---					
NOX5	79400	broad.mit.edu	37	15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:69328208_69328210delCTG	ENST00000260364.5	+	8	1367_1369	c.1066_1068delCTG	c.(1066-1068)del	p.L362del	NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000388866.3_In_Frame_Del_p.L380del			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGTCGCTCTGCTGCTGCTGC	0.626													8	804	---	---	---	---					
C16orf62	57020	broad.mit.edu	37	16	19580800	19580802	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:19580800_19580802delTCC	ENST00000438132.3	+	3	487_489	c.439_441delTCC	c.(439-441)del	p.S153del	C16orf62_ENST00000251143.5_In_Frame_Del_p.S64del|C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del|C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del|C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	64						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						TTCTTCCACGTCCTCCTCCTCCT	0.562													7	214	---	---	---	---					
ITGAL	0	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)ggg>gg	p.GL1100del	ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del|ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1100					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCATCGGGGGGCTGCTGCTGCTG	0.601													13	950	---	---	---	---					
BCL7C	9274	broad.mit.edu	37	16	30899223	30899223	+	Frame_Shift_Del	DEL	G	G	-	rs150838242		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:30899223delG	ENST00000215115.4	-	6	1632	c.617delC	c.(616-618)cafs	p.P206fs	AC106782.20_ENST00000572471.1_RNA|BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000564901.1_RNA|MIR4519_ENST00000565573.1_RNA|MIR4519_ENST00000570025.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	206	Pro-rich.				apoptosis					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			GCGCTTGAGTGGGGGGGCACC	0.622													9	774	---	---	---	---					
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)del	p.E91del	COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	91					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576													8	637	---	---	---	---					
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)ccc>cc	p.PS612del		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	612	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611													9	321	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	71220808	71220808	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:71220808delT	ENST00000538248.1	-	2	106	c.72delA	c.(70-72)aafs	p.K24fs	HYDIN_ENST00000393567.2_5'UTR|HYDIN_ENST00000393550.2_5'UTR|HYDIN_ENST00000321489.5_5'UTR|HYDIN_ENST00000541601.1_Frame_Shift_Del_p.K14fs|HYDIN_ENST00000288168.10_Frame_Shift_Del_p.K14fs|HYDIN_ENST00000448089.2_5'UTR|HYDIN_ENST00000448691.1_5'UTR	NM_001198542.1	NP_001185471.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	0										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTTTAGTAATTTTTTTTTCT	0.333													7	412	---	---	---	---					
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgt>cg	p.RR591del	MPDU1_ENST00000423172.2_3'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547													10	1039	---	---	---	---					
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)del	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537													16	1098	---	---	---	---					
PLCD3	113026	broad.mit.edu	37	17	43192760	43192762	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:43192760_43192762delTCC	ENST00000322765.5	-	9	1622_1624	c.1509_1511delGGA	c.(1507-1512)gat>ga	p.ED503del	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	503					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E503D(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	ctcctcgtcatcctcctcctcct	0.670													7	92	---	---	---	---					
WBP11P1	0	broad.mit.edu	37	18	30091782	30091782	+	RNA	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr18:30091782delT	ENST00000567636.1	+	0	157					NR_003558.1																						tttctttttctttttttttAA	0.418													8	239	---	---	---	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cgg>cg	p.RK211del	ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	211					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													8	505	---	---	---	---					
GLTSCR1	29998	broad.mit.edu	37	19	48197891	48197891	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:48197891delC	ENST00000396720.3	+	8	2997	c.2803delC	c.(2803-2805)ccfs	p.P940fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	940	Poly-Pro.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCGGCAGCACCCCCCCCACC	0.672													11	167	---	---	---	---					
C20orf194	25943	broad.mit.edu	37	20	3235916	3235916	+	Frame_Shift_Del	DEL	T	T	-	rs2281496	by1000genomes	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:3235916delT	ENST00000252032.9	-	35	3343	c.3276delA	c.(3274-3276)aafs	p.K1092fs	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1092										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TCTTCAGGGCTTTCCTCTGAG	0.612													2	4	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989772	47989772	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:47989772delG	ENST00000371741.4	-	2	2491	c.2325delC	c.(2323-2325)ccfs	p.P775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGAGGCTTTTGGGGGGGCTGG	0.547													7	1635	---	---	---	---					
YTHDF1	54915	broad.mit.edu	37	20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gtg>g	p.EV547del	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557													7	598	---	---	---	---					
SMPD4P1	0	broad.mit.edu	37	22	20976583	20976584	+	RNA	INS	-	-	A	rs71660558		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr22:20976583_20976584insA	ENST00000443839.1	-	0	1539																											agactttgcctaaaaaaaaaaa	0.520													3	3	---	---	---	---					
RAI2	10742	broad.mit.edu	37	X	17818550	17818550	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:17818550delA	ENST00000545871.1	-	3	2041	c.1581delT	c.(1579-1581)ttfs	p.F527fs	RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	527					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACTTTCTTGGAAAAAAGGTGG	0.333													7	2140	---	---	---	---					
NAP1L3	4675	broad.mit.edu	37	X	92928153	92928155	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:92928153_92928155delTGC	ENST00000373079.3	-	1	412_414	c.149_151delGCA	c.(148-153)act>a	p.ST50del	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	50	Ser-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ctgccactagtgctgctgctgct	0.586													9	195	---	---	---	---					
AMOT	154796	broad.mit.edu	37	X	112058783	112058785	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:112058783_112058785delGCT	ENST00000371959.3	-	2	1192_1194	c.1193_1195delAGC	c.(1192-1197)cca>c	p.QP398del	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_In_Frame_Del_p.QP166del|AMOT_ENST00000371962.1_In_Frame_Del_p.QP166del|AMOT_ENST00000524145.1_In_Frame_Del_p.QP398del	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	398					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						tgctgctgtggctgctgctgctg	0.562													9	253	---	---	---	---					
MAGEC1	9947	broad.mit.edu	37	X	140994114	140994116	+	In_Frame_Del	DEL	CTC	CTC	-	rs141900922	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:140994114_140994116delCTC	ENST00000285879.4	+	4	1210_1212	c.924_926delCTC	c.(922-927)agc>ag	p.SS312del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	312							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.483										HNSCC(15;0.026)			7	1581	---	---	---	---					
SPANXN2	494119	broad.mit.edu	37	X	142803692	142803692	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:142803692delT	ENST00000370498.1	-	1	824	c.71delA	c.(70-72)atfs	p.N24fs		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	24										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.443													12	919	---	---	---	---					
