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
KIAA0355	9710	broad.mit.edu	37	19	34843552	34843552	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr19:34843552G>C	ENST00000299505.6	+	14	3778	c.2905G>C	c.(2905-2907)Gat>Cat	p.D969H	AC010504.2_ENST00000591311.1_RNA	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	969										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TGTTTCTCAGGATAACAAAAC	0.562000													26	22					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103349883	103349883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr11:103349883G>T	ENST00000375735.2	+	89	12970	c.12826G>T	c.(12826-12828)Gaa>Taa	p.E4276*	DYNC2H1_ENST00000334267.7_Nonsense_Mutation_p.E889*|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E4283*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4276					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CACAAGTGCTGAAAGGGATCG	0.403000													12	26					4.36969e-10	4.57777e-10	1	1	0
TIAL1	7073	broad.mit.edu	37	10	121336637	121336637	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr10:121336637G>C	ENST00000369092.4	-	11	1755	c.447C>G	c.(445-447)tgC>tgG	p.C149W	TIAL1_ENST00000369093.2_Missense_Mutation_p.C289W|TIAL1_ENST00000436547.2_Missense_Mutation_p.C272W|TIAL1_ENST00000463089.2_5'UTR			Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	272	RRM 2.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TACCCCAATAGCATTTAACCA	0.363000													28	24					0	0	1	0	0
OR52W1	120787	broad.mit.edu	37	11	6220918	6220918	+	Silent	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr11:6220918G>A	ENST00000311352.2	+	1	543	c.465G>A	c.(463-465)ctG>ctA	p.L155L		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTGGCACTGAAAGCTGTGG	0.552000													16	17					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62388770	62388770	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr3:62388770T>C	ENST00000383710.4	-	29	4217	c.3868A>G	c.(3868-3870)Att>Gtt	p.I1290V	CADPS_ENST00000283269.9_Missense_Mutation_p.I1251V|CADPS_ENST00000357948.3_Missense_Mutation_p.I1211V	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1290	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACCATCCTAATTAGTGTTTTC	0.368000													19	25					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39846179	39846179	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr6:39846179G>A	ENST00000538976.1	+	13	1542		c.e13-1		DAAM2_ENST00000274867.4_Splice_Site|DAAM2_ENST00000398904.2_Splice_Site	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2						actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCCATTCCAGAACACATGGA	0.537000													5	5					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27087932	27087932	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr1:27087932C>T	ENST00000324856.7	+	6	2590	c.2219C>T	c.(2218-2220)tCc>tTc	p.S740F	ARID1A_ENST00000457599.2_Missense_Mutation_p.S740F|ARID1A_ENST00000374152.2_Missense_Mutation_p.S357F	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	740					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATGCATCCTTCCATGAACCAA	0.552000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								16	7					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130660	45130660	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr20:45130660T>G	ENST00000457685.2	-	6	2527	c.1204A>C	c.(1204-1206)Aaa>Caa	p.K402Q	ZNF334_ENST00000593880.1_Missense_Mutation_p.K463Q|ZNF334_ENST00000347606.4_Missense_Mutation_p.K440Q			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATAAAAATTTTCCACATTGA	0.373000													4	129					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121746393	121746393	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr12:121746393G>A	ENST00000261819.3	-	17	2279	c.2158C>T	c.(2158-2160)Ctc>Ttc	p.L720F	ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.L707F|ANAPC5_ENST00000441917.2_Missense_Mutation_p.L608F|ANAPC5_ENST00000344395.4_Missense_Mutation_p.L608F|ANAPC5_ENST00000535482.1_Missense_Mutation_p.L386F	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	720					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTATGGTAGAGTCTGGCCTGG	0.542000													42	63					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406683	105406683	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr14:105406683C>G	ENST00000333244.5	-	7	15224	c.15105G>C	c.(15103-15105)aaG>aaC	p.K5035N	AHNAK2_ENST00000557457.1_Missense_Mutation_p.K33N	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5035						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGACCCCACTCTTAGAAGCCT	0.542000													40	52					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48628108	48628108	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr17:48628108C>A	ENST00000006658.6	+	11	1333	c.1213C>A	c.(1213-1215)Cca>Aca	p.P405T	SPATA20_ENST00000393244.3_Missense_Mutation_p.P345T|SPATA20_ENST00000356488.4_Missense_Mutation_p.P389T|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	389					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			AGACTCGCCCCCAGAGCGGGG	0.672000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	42					1.5548e-18	1.64187e-18	1	1	0
PRUNE	58497	broad.mit.edu	37	1	151006312	151006312	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr1:151006312C>G	ENST00000271620.3	+	8	1120	c.964C>G	c.(964-966)Cca>Gca	p.P322A	PRUNE_ENST00000271619.8_Missense_Mutation_p.P110A|PRUNE_ENST00000368936.1_Missense_Mutation_p.P140A|PRUNE_ENST00000368935.1_Missense_Mutation_p.P37A|PRUNE_ENST00000368934.1_Missense_Mutation_p.P87A|PRUNE_ENST00000368937.1_Missense_Mutation_p.P87A	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	322						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCCCACTCTCCACCCCTGAA	0.512000													18	44					0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43622444	43622444	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr15:43622444G>A	ENST00000305641.5	-	1	359	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	82					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	ATCTGCGCGCGAAGCGCGGCC	0.652000													16	24					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118657936	118657936	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr1:118657936C>G	ENST00000336338.5	-	4	509	c.444G>C	c.(442-444)aaG>aaC	p.K148N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	148	Lys-rich.					cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACAGTACCTTCTTTTCATTTT	0.428000													36	46					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949957	235949957	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr2:235949957G>C	ENST00000409212.1	+	4	1051	c.544G>C	c.(544-546)Gat>Cat	p.D182H	SH3BP4_ENST00000344528.4_Missense_Mutation_p.D182H|SH3BP4_ENST00000392011.2_Missense_Mutation_p.D182H			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	182					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCCCAGCCTGGATGAGCTGAA	0.493000													3	75					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377794	113377794	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr3:113377794G>C	ENST00000316407.4	-	7	3145	c.2735C>G	c.(2734-2736)tCt>tGt	p.S912C	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.S912C	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	912					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATTAGGGGTAGAATCTTTGGA	0.428000													47	69					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170097457	170097457	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr2:170097457G>C	ENST00000443831.1	-	23	3809	c.3675C>G	c.(3673-3675)ttC>ttG	p.F1225L	LRP2_ENST00000263816.3_Intron			P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	0					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTACTGTTCAGAATGAGTTTA	0.468000													27	30					0	0	1	0	0
ARSD	414	broad.mit.edu	37	X	2825535	2825535	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chrX:2825535G>C	ENST00000381154.1	-	10	1634	c.1559C>G	c.(1558-1560)tCc>tGc	p.S520C		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	520						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGGTCCCTGGAGAGGTCAAA	0.697000													3	0					0	0	1	0	0
TRAM2	9697	broad.mit.edu	37	6	52370505	52370505	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr6:52370505C>T	ENST00000182527.3	-	9	766	c.767G>A	c.(766-768)cGc>cAc	p.R256H	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	256	TLC.				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding	p.R256L(1)		endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					GATGAAGAGGCGGGTAACCCC	0.537000													20	29					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36362800	36362800	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr19:36362800G>A	ENST00000221891.4	+	6	904	c.712G>A	c.(712-714)Gag>Aag	p.E238K	APLP1_ENST00000586861.1_Missense_Mutation_p.E232K|APLP1_ENST00000537454.2_Missense_Mutation_p.E199K	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	238					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGCAGAGTAGAGGGGGCTGA	0.632000													21	46					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9862756	9862756	+	Silent	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr16:9862756G>A	ENST00000396573.2	-	13	2856	c.2547C>T	c.(2545-2547)ttC>ttT	p.F849F	GRIN2A_ENST00000330684.3_Silent_p.F849F|GRIN2A_ENST00000396575.2_Silent_p.F849F|GRIN2A_ENST00000562109.1_Silent_p.F849F|GRIN2A_ENST00000535259.1_Silent_p.F692F|GRIN2A_ENST00000404927.2_Silent_p.F849F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	849					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACACGCCCGTGAAACAGAAGC	0.572000													45	46					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16251606	16251606	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr16:16251606C>T	ENST00000205557.7	-	27	3825	c.3796G>A	c.(3796-3798)Gag>Aag	p.E1266K		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1266	ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCCCGGAACTCGATCTGCCCG	0.627000													6	21					0	0	1	0	0
MRTO4	51154	broad.mit.edu	37	1	19582480	19582480	+	Silent	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr1:19582480C>T	ENST00000330263.4	+	3	423	c.126C>T	c.(124-126)atC>atT	p.I42I	MRTO4_ENST00000493700.1_3'UTR	NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	42					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTTTTCATCTTCTCTGTGG	0.557000													26	4					0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77075620	77075620	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr17:77075620C>T	ENST00000579016.1	+	4	466	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	ENGASE_ENST00000539857.2_Intron	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	156						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CTACCACTGGCAGTGCATCGA	0.582000													28	62					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122217656	122217656	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr2:122217656C>T	ENST00000263710.4	-	12	1467	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000541859.1_Missense_Mutation_p.D129N|CLASP1_ENST00000409078.3_Missense_Mutation_p.D360N|CLASP1_ENST00000455322.2_Missense_Mutation_p.D360N|CLASP1_ENST00000541377.1_Missense_Mutation_p.D360N|CLASP1_ENST00000545861.1_Missense_Mutation_p.D128N|CLASP1_ENST00000397587.3_Missense_Mutation_p.D360N	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	360					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AAGAAGTTATCATACTCAGCA	0.393000													17	30					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123258034	123258034	+	Missense_Mutation	SNP	A	A	T	rs121913476		TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr10:123258034A>T	ENST00000358487.5	-	12	1919	c.1647T>A	c.(1645-1647)aaT>aaA	p.N549K	FGFR2_ENST00000369059.1_Missense_Mutation_p.N435K|FGFR2_ENST00000356226.4_Missense_Mutation_p.N432K|FGFR2_ENST00000369060.4_Missense_Mutation_p.N433K|FGFR2_ENST00000351936.6_Missense_Mutation_p.N547K|FGFR2_ENST00000360144.3_Missense_Mutation_p.N461K|FGFR2_ENST00000457416.2_Missense_Mutation_p.N550K|FGFR2_ENST00000478859.1_Missense_Mutation_p.N321K|FGFR2_ENST00000369056.1_Missense_Mutation_p.N550K|FGFR2_ENST00000369061.4_Missense_Mutation_p.N437K|FGFR2_ENST00000346997.2_Missense_Mutation_p.N547K|FGFR2_ENST00000357555.5_Missense_Mutation_p.N460K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	549	Protein kinase.		N -> H (in CS).		angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.N549K(21)|p.N547K(4)|p.N460K(4)|p.N550K(4)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTCCAAGAAGATTTATGATAT	0.423000	N549K(AN3CA_ENDOMETRIUM)|N549K(MFE296_ENDOMETRIUM)	5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				16	28					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36365646	36365646	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr19:36365646G>A	ENST00000221891.4	+	10	1411	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	APLP1_ENST00000586861.1_Missense_Mutation_p.E401K|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Missense_Mutation_p.E368K	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	407					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCACAGGCGGAGCGTGTCCT	0.682000													14	13					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073037	15073037	+	Missense_Mutation	SNP	C	C	T	rs141949887		TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr19:15073037C>T	ENST00000598504.1	-	8	2071	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	SLC1A6_ENST00000600144.1_Missense_Mutation_p.E238K|SLC1A6_ENST00000221742.3_Missense_Mutation_p.E238K|SLC1A6_ENST00000544886.2_Missense_Mutation_p.E238K|SLC1A6_ENST00000430939.2_Missense_Mutation_p.E174K	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	238					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.E238K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GTGACATTTTCCAGGAAGCTG	0.602000													23	31					0	0	1	0	0
MIR144	406936	broad.mit.edu	37	17	27188448	27188448	+	RNA	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr17:27188448C>T	ENST00000385059.1	-	0	10					NR_029970.1|NR_039876.1																						GGTTTCCTTGCCATTCCCAAG	0.512000													35	49					0	0	1	0	0
TFEB	7942	broad.mit.edu	37	6	41654867	41654867	+	Silent	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr6:41654867C>T	ENST00000394283.1	-	7	1994	c.768G>A	c.(766-768)aaG>aaA	p.K256K	TFEB_ENST00000230323.4_Silent_p.K256K|TFEB_ENST00000403298.4_Silent_p.K256K|TFEB_ENST00000373033.1_Silent_p.K256K|TFEB_ENST00000358871.2_Silent_p.K270K|TFEB_ENST00000420312.1_Silent_p.K171K			P19484	TFEB_HUMAN	transcription factor EB	256	Helix-loop-helix motif.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TTCCCAACTCCTTGATGCGGT	0.532000			T	ALPHA	renal (childhood epithelioid)								13	9					0	0	1	0	0
TMEM186	25880	broad.mit.edu	37	16	8890052	8890052	+	Silent	SNP	C	C	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr16:8890052C>G	ENST00000333050.6	-	2	432	c.399G>C	c.(397-399)ctG>ctC	p.L133L	PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	133						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						CAGACTCATTCAGATACAGGA	0.542000													27	18					0	0	1	0	0
PGRMC1	10857	broad.mit.edu	37	X	118374412	118374412	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chrX:118374412G>A	ENST00000217971.7	+	2	580	c.469G>A	c.(469-471)Gag>Aag	p.E157K	PGRMC1_ENST00000535419.1_Intron	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	157	Cytochrome b5 heme-binding.					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding			lung(6)	6						GAGTGACTGGGAGTCTCAGTT	0.468000													34	9					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27087955	27087955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr1:27087955C>T	ENST00000324856.7	+	6	2613	c.2242C>T	c.(2242-2244)Caa>Taa	p.Q748*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q748*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q365*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	748					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAGCATTGCCCAAGATCGAGG	0.552000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								15	7					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119244116	119244116	+	Silent	SNP	C	C	T	rs140149067		TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr11:119244116C>T	ENST00000260187.2	-	2	369	c.75G>A	c.(73-75)tcG>tcA	p.S25S	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	25	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CACCATAGCCCGACTTGGCAT	0.597000													6	13					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195513169	195513169	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr3:195513169A>G	ENST00000463781.3	-	2	5741	c.5282T>C	c.(5281-5283)cTt>cCt	p.L1761P	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L1761P|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	553					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTGACAGGAAGAGGGGTGGC	0.582000													4	2					0	0	1	0	0
CXCL12	6387	broad.mit.edu	37	10	44873246	44873246	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr10:44873246C>T	ENST00000395794.2	-	4	417	c.374G>A	c.(373-375)cGt>cAt	p.R125H	CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000395795.4_Intron	NM_001178134.1	NP_001171605.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	AGGCCAAAGACGGATCTCACA	0.607000													8	7					0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46411922	46411922	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr2:46411922G>C	ENST00000306156.3	+	15	2443	c.2116G>C	c.(2116-2118)Gag>Cag	p.E706Q		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	706	AGC-kinase C-terminal.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			TACCCGGGAAGAGCCGGTACT	0.473000													15	45					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91447503	91447503	+	Silent	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr15:91447503C>T	ENST00000360468.3	+	1	84	c.66C>T	c.(64-66)ctC>ctT	p.L22L	MAN2A2_ENST00000559717.1_Silent_p.L22L	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	22					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TCTTCTCGCTCTACCTCATGC	0.552000													39	56					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71604297	71604297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr16:71604297G>A	ENST00000355962.4	-	9	1049	c.916C>T	c.(916-918)Cga>Tga	p.R306*	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	306					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	AGCCCATCTCGGATCTAAAAG	0.443000													12	21					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350022	89350022	+	Silent	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr16:89350022C>T	ENST00000301030.4	-	9	3388	c.2928G>A	c.(2926-2928)ctG>ctA	p.L976L	ANKRD11_ENST00000378330.2_Silent_p.L976L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	976	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CACACTCCTTCAGCTCCTCCC	0.677000													41	55					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112437186	112437186	+	Silent	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr6:112437186G>A	ENST00000230538.7	-	36	5389	c.4992C>T	c.(4990-4992)ttC>ttT	p.F1664F	LAMA4_ENST00000389463.4_Silent_p.F1657F|LAMA4_ENST00000424408.2_Silent_p.F1657F|LAMA4_ENST00000522006.1_Silent_p.F1657F	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1664	Laminin G-like 5.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATCCAATATTGAAAGATTCAT	0.383000													28	30					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43585743	43585743	+	RNA	SNP	G	G	C			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr17:43585743G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							CTTTAAGCCAGAGCGGCCGTC	0.443000													15	3					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135693045	135693045	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr5:135693045G>A	ENST00000513104.1	-	2	313	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	TRPC7_ENST00000426057.2_Nonsense_Mutation_p.Q11*|TRPC7_ENST00000355180.3_Nonsense_Mutation_p.Q11*	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	11					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCCGGCGCTGCATGTTTTTG	0.567000													3	37					0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96971707	96971707	+	Silent	SNP	G	G	C			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr10:96971707G>C	ENST00000341686.3	+	6	953	c.828G>C	c.(826-828)ctG>ctC	p.L276L	C10orf129_ENST00000430183.1_Silent_p.L121L|C10orf129_ENST00000394005.3_Silent_p.L276L	NM_207321.2	NP_997204.2	Q6P461	ACSM6_HUMAN	chromosome 10 open reading frame 129	276					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CTTTATCCCTGAGCGCTGTCT	0.473000													21	25					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25304616	25304616	+	RNA	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr15:25304616C>T	ENST00000549804.2	+	0	98																											TGCCGAAGGTCTTTAAGGTCG	0.498000													29	38					0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134382862	134382862	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr9:134382862C>G	ENST00000423007.1	+	5	830	c.388C>G	c.(388-390)Cat>Gat	p.H130D	POMT1_ENST00000341012.7_Missense_Mutation_p.H76D|POMT1_ENST00000404875.2_Missense_Mutation_p.H13D|POMT1_ENST00000372228.3_Missense_Mutation_p.H130D|POMT1_ENST00000402686.3_Missense_Mutation_p.H130D|POMT1_ENST00000354713.4_Missense_Mutation_p.H100D|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000419118.2_Intron	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	130					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CCACTTTTCTCATTGTGCCGC	0.602000													34	46					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177225243	177225243	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr1:177225243G>A	ENST00000361539.4	+	3	770	c.458G>A	c.(457-459)gGa>gAa	p.G153E		NM_021165.2	NP_066988.1			bone morphogenetic protein/retinoic acid inducible neural-specific 2	153																	GCCACCCTTGGAGGTAAGCAA	0.448000											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	20					0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41341805	41341805	+	Silent	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr17:41341805C>T	ENST00000422280.1	+	8	1140	c.681C>T	c.(679-681)gtC>gtT	p.V227V	NBR1_ENST00000341165.6_Silent_p.V227V|NBR1_ENST00000590996.1_Silent_p.V227V|NBR1_ENST00000589872.1_Silent_p.V227V|NBR1_ENST00000542611.1_Silent_p.V206V|NBR1_ENST00000389312.4_Silent_p.V227V	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	227					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TTGTTGGTGTCCGCTACCAGT	0.438000													39	55					0	0	1	0	0
TLE6	79816	broad.mit.edu	37	19	2987370	2987370	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr19:2987370G>A	ENST00000246112.4	+	8	759	c.558G>A	c.(556-558)ctG>ctA	p.L186L	TLE6_ENST00000452088.1_Splice_Site_p.L63L|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	63					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		CACCAGGCCTGGTGAGTAAAC	0.622000													26	26					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18391145	18391145	+	Silent	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr3:18391145C>T	ENST00000338745.6	-	11	3543	c.1809G>A	c.(1807-1809)caG>caA	p.Q603Q	SATB1_ENST00000454909.2_Silent_p.Q603Q|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Silent_p.Q635Q	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	603	Poly-Gln.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						gctgctgctgctgctgctgtt	0.612000													4	13					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130760903	130760903	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr8:130760903C>G	ENST00000276708.4	-	14	2252	c.1371G>C	c.(1369-1371)caG>caC	p.Q457H		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	457						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AACCCTCACTCTGGAGTGGGG	0.542000													17	28					0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43622424	43622424	+	Silent	SNP	G	G	C			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr15:43622424G>C	ENST00000305641.5	-	1	379	c.264C>G	c.(262-264)ctC>ctG	p.L88L	LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	88					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AGCCAGCGCCGAGAGACAAGA	0.667000													13	24					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94839546	94839546	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr5:94839546C>T	ENST00000358746.2	-	31	3487	c.3189G>A	c.(3187-3189)atG>atA	p.M1063I		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1063							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AAAGCCCCTTCATGAATAAAG	0.378000													37	49					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54803106	54803106	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr19:54803106G>A	ENST00000391745.1	-	8	938	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.R191C					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACCACCTGCGACTTGGGCTC	0.582000													30	46					0	0	1	0	0
RNLS	55328	broad.mit.edu	37	10	90074274	90074274	+	Silent	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr10:90074274C>T	ENST00000371947.3	-	6	2164	c.825G>A	c.(823-825)ccG>ccA	p.P275P	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000331772.4_Silent_p.P275P|RNLS_ENST00000437752.1_Silent_p.P192P	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	275						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GAGGCAAACCCGGCAAAATGT	0.433000													22	40					0	0	1	0	0
ACR	49	broad.mit.edu	37	22	51182532	51182532	+	Silent	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr22:51182532C>T	ENST00000216139.5	+	4	649	c.609C>T	c.(607-609)ctC>ctT	p.L203L		NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	203	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GTGTGGATCTCATCGACCTGG	0.567000													36	61					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1057010	1057010	+	Missense_Mutation	SNP	G	G	A	rs143045355		TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr19:1057010G>A	ENST00000263094.6	+	34	4922	c.4691G>A	c.(4690-4692)cGa>cAa	p.R1564Q	ABCA7_ENST00000435683.2_Missense_Mutation_p.R1426Q|ABCA7_ENST00000433129.1_Missense_Mutation_p.R1564Q	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1564					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)		CGAGTCACCCGAGCCAAGCAC	0.627000													16	15					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34922813	34922813	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr21:34922813G>C	ENST00000356577.4	+	3	1751	c.1276G>C	c.(1276-1278)Gag>Cag	p.E426Q	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.E426Q|SON_ENST00000300278.4_Missense_Mutation_p.E426Q|SON_ENST00000290239.6_Missense_Mutation_p.E426Q	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	426					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CCCAGTGCCTGAGTTGCCAGG	0.652000													21	28					0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33179194	33179194	+	Silent	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr6:33179194C>T	ENST00000374656.4	+	5	923	c.715C>T	c.(715-717)Ctg>Ttg	p.L239L	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	239	Gly-rich.|Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GGGAGGGACTCTGGGAGGGGG	0.721000													3	3					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	591414	591414	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr11:591414C>G	ENST00000264555.5	+	5	579	c.451C>G	c.(451-453)Cta>Gta	p.L151V	PHRF1_ENST00000416188.2_Missense_Mutation_p.L151V|PHRF1_ENST00000533464.1_Missense_Mutation_p.L147V|PHRF1_ENST00000413872.2_Missense_Mutation_p.L150V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	151							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGATCGAACTCTATTTAAGTG	0.413000													8	12					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3656619	3656619	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr17:3656619C>G	ENST00000263087.4	-	14	1731	c.1633G>C	c.(1633-1635)Gaa>Caa	p.E545Q		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	545					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACTCTGCCTTCTTCTCCATGA	0.537000													11	14					0	0	1	0	0
FUT10	84750	broad.mit.edu	37	8	33246682	33246682	+	Silent	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr8:33246682G>A	ENST00000327671.5	-	4	1642	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Silent_p.I309I|FUT10_ENST00000335589.3_Silent_p.I275I|FUT10_ENST00000524021.1_Silent_p.I309I	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	337					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		CCAGTCGTCTGATGTAACTTG	0.458000													21	21					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36362811	36362811	+	Silent	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr19:36362811G>A	ENST00000221891.4	+	6	915	c.723G>A	c.(721-723)gaG>gaA	p.E241E	APLP1_ENST00000586861.1_Silent_p.E235E|APLP1_ENST00000537454.2_Silent_p.E202E	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	241	Poly-Glu.				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGGGGCTGAGGACGAGGAAG	0.632000													27	51					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81584977	81584977	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr15:81584977C>T	ENST00000394660.2	+	12	1861	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	IL16_ENST00000302987.4_Missense_Mutation_p.R501C	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	501					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACCCCCGCATCGCAGGGCTCA	0.602000													16	16					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124875086	124875086	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr11:124875086G>C	ENST00000529051.1	+	13	2648	c.2389G>C	c.(2389-2391)Gaa>Caa	p.E797Q	CCDC15_ENST00000344762.5_Missense_Mutation_p.E797Q			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	797						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAGGCAAAAAGAACAAAAGAA	0.328000													9	5					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261806	1261806	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr16:1261806G>A	ENST00000348261.5	+	24	4814		c.e24+1		CACNA1H_ENST00000565831.1_Splice_Site|CACNA1H_ENST00000358590.4_Splice_Site	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGACCAGCAGGTGCGCACAGG	0.672000													18	28					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100192085	100192085	+	Silent	SNP	G	G	C			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr7:100192085G>C	ENST00000241071.6	+	6	1195	c.873G>C	c.(871-873)ctG>ctC	p.L291L	FBXO24_ENST00000360609.2_Silent_p.L277L|FBXO24_ENST00000465843.1_Silent_p.L277L|FBXO24_ENST00000427939.2_Silent_p.L329L|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000468962.1_Silent_p.L279L|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	291						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGCTGGCCCTGAGGAAGGTGT	0.587000													15	25					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247253	153247253	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr4:153247253C>T	ENST00000281708.4	-	10	2778	c.1549G>A	c.(1549-1551)Gga>Aga	p.G517R	FBXW7_ENST00000296555.5_Missense_Mutation_p.G399R|FBXW7_ENST00000603841.1_Missense_Mutation_p.G517R|FBXW7_ENST00000263981.5_Missense_Mutation_p.G437R|FBXW7_ENST00000603548.1_Missense_Mutation_p.G517R|FBXW7_ENST00000393956.3_Missense_Mutation_p.G341R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	517					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCATATGCTCCACTAACAACC	0.443000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								29	37					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36680477	36680477	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr22:36680477C>T	ENST00000216181.5	-	39	5794	c.5564G>A	c.(5563-5565)cGg>cAg	p.R1855Q	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1855					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGCGTTCCTCCGCTCGTCATC	0.647000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				11	16					0	0	1	0	0
RUNX1	861	broad.mit.edu	37	21	36252892	36252892	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr21:36252892C>A	ENST00000344691.4	-	2	1966	c.389G>T	c.(388-390)aGa>aTa	p.R130I	RUNX1_ENST00000399240.1_Missense_Mutation_p.R130I|RUNX1_ENST00000486278.2_Missense_Mutation_p.R133I|RUNX1_ENST00000325074.5_Missense_Mutation_p.R145I|RUNX1_ENST00000358356.5_Missense_Mutation_p.R130I|RUNX1_ENST00000300305.3_Missense_Mutation_p.R157I|RUNX1_ENST00000437180.1_Missense_Mutation_p.R157I	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	130	Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GTCATTAAATCTTGCAACCTG	0.458000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								14	25					4.3838e-07	4.52079e-07	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49432453	49432453	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr12:49432453G>A	ENST00000301067.7	-	34	8685	c.8686C>T	c.(8686-8688)Cct>Tct	p.P2896S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCCTGACCAGGAAACGGAGTG	0.622000													6	7					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266182	41266182	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr3:41266182C>T	ENST00000349496.5	+	3	459	c.179C>T	c.(178-180)tCc>tTc	p.S60F	CTNNB1_ENST00000405570.1_Missense_Mutation_p.S60F|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S60F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S60F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S53F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	60					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.S60C(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.Q28_Q61del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.S60F(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.M8_A80del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GTGGATACCTCCCAAGTCCTG	0.458000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				23	19					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36362789	36362789	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr19:36362789G>A	ENST00000221891.4	+	6	893	c.701G>A	c.(700-702)gGg>gAg	p.G234E	APLP1_ENST00000586861.1_Missense_Mutation_p.G228E|APLP1_ENST00000537454.2_Missense_Mutation_p.G195E	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	234					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGCCCCCGGGGAGCAGAGTA	0.637000													22	39					0	0	1	0	0
VAPA	9218	broad.mit.edu	37	18	9950543	9950543	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr18:9950543C>T	ENST00000400000.2	+	5	824	c.569C>T	c.(568-570)tCa>tTa	p.S190L	VAPA_ENST00000340541.4_Missense_Mutation_p.S235L|VAPA_ENST00000584796.1_3'UTR	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	190					cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						ATGAAGCTATCAGAAGAAAAT	0.373000													17	23					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92570927	92570927	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr11:92570927C>A	ENST00000298047.6	+	16	10340	c.10323C>A	c.(10321-10323)gaC>gaA	p.D3441E	FAT3_ENST00000409404.2_Missense_Mutation_p.D3441E|FAT3_ENST00000525166.1_Missense_Mutation_p.D3291E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3441	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGTGAATGACAACAGCCCGG	0.468000										TCGA Ovarian(4;0.039)			16	13					4.7546e-09	4.94179e-09	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49425098	49425098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr12:49425098G>A	ENST00000301067.7	-	39	13389	c.13390C>T	c.(13390-13392)Cag>Tag	p.Q4464*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGTAGCTTCTGCAAGAGCAGA	0.617000													20	26					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110766136	110766136	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr1:110766136C>G	ENST00000369787.3	+	2	1256	c.1229C>G	c.(1228-1230)tCc>tGc	p.S410C	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.S410C|KCNC4_ENST00000413138.3_Missense_Mutation_p.S410C	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	410					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCAGGCCCTCCGACCCTCGG	0.567000													17	47					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113933459	113933459	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr10:113933459G>C	ENST00000348367.4	-	7	755	c.558C>G	c.(556-558)atC>atG	p.I186M	GPAM_ENST00000369425.1_Missense_Mutation_p.I186M|GPAM_ENST00000423155.1_Missense_Mutation_p.I186M			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	186					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TTTAATACCTGATCATTGCCG	0.403000													46	42					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91136982	91136982	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr15:91136982C>T	ENST00000420329.2	+	3	493	c.346C>T	c.(346-348)Cga>Tga	p.R116*	CRTC3_ENST00000560098.1_Intron|CRTC3_ENST00000268184.6_Nonsense_Mutation_p.R116*|CRTC3_ENST00000558619.1_3'UTR	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	116					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CAAGCCAGGGCGACAAATATC	0.507000			T	MAML2	salivary gland mucoepidermoid								14	16					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99771402	99771402	+	Silent	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr1:99771402C>T	ENST00000370185.3	+	7	1625	c.1128C>T	c.(1126-1128)ctC>ctT	p.L376L	LPPR4_ENST00000457765.1_Silent_p.L318L|LPPR4_ENST00000370184.1_Silent_p.L218L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		376							phosphatidate phosphatase activity	p.L376L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AAGGCATCCTCAACCGAAACC	0.468000													26	53					0	0	1	0	0
ERI3	79033	broad.mit.edu	37	1	44778888	44778888	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr1:44778888T>C	ENST00000372257.2	-	5	800	c.619A>G	c.(619-621)Att>Gtt	p.I207V	ERI3_ENST00000372259.5_Missense_Mutation_p.I92V|ERI3_ENST00000537474.1_Missense_Mutation_p.I30V|ERI3_ENST00000495828.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	207	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATGGCTTGAATAATCCCGGTG	0.512000													37	4					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124270320	124270320	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr12:124270320G>A	ENST00000409039.3	+	9	1100	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	359	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGCTTCCACGTGGTCCTGGA	0.537000													13	18					0	0	1	0	0
PRR11	55771	broad.mit.edu	37	17	57278991	57278991	+	Silent	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr17:57278991G>A	ENST00000262293.4	+	10	1394	c.1082G>A	c.(1081-1083)tGa>tAa	p.*361*	CTD-2510F5.6_ENST00000577660.1_Intron	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	0										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GAACAAAACTGATGCCAACTC	0.433000													35	44					0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367856	107367856	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr9:107367856G>A	ENST00000542196.1	-	1	95	c.53C>T	c.(52-54)tCt>tTt	p.S18F		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGGGTGACCAGAAAGTCCCTT	0.378000													22	37					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187078818	187078818	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr4:187078818C>T	ENST00000356371.5	+	8	1547	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	FAM149A_ENST00000503432.1_Missense_Mutation_p.S225F|FAM149A_ENST00000502970.1_Missense_Mutation_p.S225F|FAM149A_ENST00000514153.1_Missense_Mutation_p.S225F|FAM149A_ENST00000389354.5_Missense_Mutation_p.S225F|FAM149A_ENST00000227065.4_Missense_Mutation_p.S225F|FAM149A_ENST00000514829.1_3'UTR			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	516										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GGCCCCCCGTCCGGACACGCC	0.592000													21	33					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3657114	3657114	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr17:3657114C>G	ENST00000263087.4	-	13	1588	c.1490G>C	c.(1489-1491)aGa>aCa	p.R497T		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	497					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCTGGCCTCTCTGCCCTCCTT	0.627000													12	21					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61083813	61083813	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr11:61083813C>T	ENST00000301764.7	-	12	1751	c.1354G>A	c.(1354-1356)Gtg>Atg	p.V452M	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	452	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TGATCATCCACGAAACCCATC	0.502000								Nucleotide excision repair (NER)					62	80					0	0	1	0	0
MTCH1	23787	broad.mit.edu	37	6	36946338	36946338	+	Silent	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr6:36946338C>T	ENST00000373627.5	-	3	580	c.456G>A	c.(454-456)ctG>ctA	p.L152L	MTCH1_ENST00000373616.5_Silent_p.L152L|MTCH1_ENST00000538808.1_5'UTR	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	152					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GCCGGGGACTCAGGCCTCGGA	0.572000													30	41					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32163712	32163712	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr1:32163712C>A	ENST00000373672.3	-	6	968	c.452G>T	c.(451-453)gGc>gTc	p.G151V	COL16A1_ENST00000271069.6_Missense_Mutation_p.G151V|COL16A1_ENST00000373668.3_Missense_Mutation_p.G151V	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	151	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CACAAAGTCGCCATCCTGGCC	0.572000													27	23					3.73808e-20	3.97925e-20	1	1	0
N4BP3	23138	broad.mit.edu	37	5	177547210	177547210	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr5:177547210C>T	ENST00000274605.5	+	3	721	c.362C>T	c.(361-363)aCg>aTg	p.T121M		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	121						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCAAGCCTACGGCGGGCAAC	0.627000													13	18					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22677064	22677064	+	RNA	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr22:22677064C>T	ENST00000426066.1	+	0	1637				IGLV1-51_ENST00000390290.2_RNA	NR_027293.1																						TCAGTGTCTGCGGCCCCAGGA	0.572000													4	80					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142094782	142094782	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr3:142094782G>A	ENST00000264951.4	-	25	2953	c.2836C>T	c.(2836-2838)Cat>Tat	p.H946Y	XRN1_ENST00000392981.2_Missense_Mutation_p.H946Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	946					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGGTCTCCATGAGGGCTGAAT	0.393000													3	47					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200587690	200587690	+	Silent	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr1:200587690C>T	ENST00000367350.4	-	2	600	c.162G>A	c.(160-162)ttG>ttA	p.L54L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	54	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CTGCAGATCTCAATAATGGAT	0.408000													29	42					0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102765448	102765448	+	Silent	SNP	G	G	A	rs144423222		TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr10:102765448G>A	ENST00000370220.1	+	3	4365	c.1302G>A	c.(1300-1302)ccG>ccA	p.P434P	LZTS2_ENST00000370223.3_Silent_p.P434P			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	434					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AGCTCGGGCCGAGGCTTGAGG	0.677000													4	3					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67327922	67327922	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr1:67327922G>A	ENST00000371026.3	-	7	1059	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	WDR78_ENST00000493572.1_5'UTR|WDR78_ENST00000431318.1_Missense_Mutation_p.S81L|WDR78_ENST00000371023.3_Missense_Mutation_p.S335L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	335										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTGTTTTACTGATAAAGATAC	0.348000													13	25					0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99917345	99917345	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr7:99917345C>G	ENST00000332397.6	+	9	1688	c.1504C>G	c.(1504-1506)Cag>Gag	p.Q502E	SPDYE3_ENST00000437326.2_Missense_Mutation_p.Q125E	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	502										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GAACTGCTCTCAGATAGCCTT	0.582000													34	42					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	596980	596980	+	Silent	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr11:596980C>T	ENST00000264555.5	+	7	806	c.678C>T	c.(676-678)ttC>ttT	p.F226F	PHRF1_ENST00000416188.2_Silent_p.F226F|PHRF1_ENST00000533464.1_Silent_p.F222F|PHRF1_ENST00000413872.2_Silent_p.F225F	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	226							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACGAGTGGTTCTGCCCGGAAT	0.622000													18	22					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97860326	97860326	+	Silent	SNP	G	G	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr7:97860326G>A	ENST00000447648.2	-	15	2528	c.2229C>T	c.(2227-2229)agC>agT	p.S743S	TECPR1_ENST00000379795.3_Silent_p.S744S|TECPR1_ENST00000542604.1_Silent_p.S673S			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	743						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCTGGGCTCGCTCACGAAGA	0.697000													8	18					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4835936	4835936	+	Silent	SNP	C	C	T	rs34532073	byFrequency	TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr12:4835936C>T	ENST00000252318.2	+	2	787	c.450C>T	c.(448-450)aaC>aaT	p.N150N	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	150						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TTGGTTACAACGCGTACCTCA	0.572000													16	23					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	30					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	598428	598428	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr11:598428C>T	ENST00000264555.5	+	9	1078	c.950C>T	c.(949-951)gCg>gTg	p.A317V	PHRF1_ENST00000416188.2_Missense_Mutation_p.A317V|PHRF1_ENST00000533464.1_Missense_Mutation_p.A313V|PHRF1_ENST00000413872.2_Missense_Mutation_p.A316V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	317	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAGGCTGTGGCGACTGGCCTG	0.652000													7	20					0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41342757	41342757	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr17:41342757C>G	ENST00000422280.1	+	9	1286	c.827C>G	c.(826-828)tCt>tGt	p.S276C	NBR1_ENST00000341165.6_Missense_Mutation_p.S276C|NBR1_ENST00000590996.1_Missense_Mutation_p.S276C|NBR1_ENST00000589872.1_Missense_Mutation_p.S276C|NBR1_ENST00000542611.1_Missense_Mutation_p.S255C|NBR1_ENST00000389312.4_Missense_Mutation_p.S276C	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	276					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TCAAAGTACTCTACTCCTCGT	0.498000													9	12					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3979840	3979840	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr19:3979840A>T	ENST00000309311.6	-	10	1659	c.1571T>A	c.(1570-1572)cTg>cAg	p.L524Q		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	524						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCGCTTCAGCCCCTCCAC	0.647000													12	14					0	0	1	0	0
DERA	51071	broad.mit.edu	37	12	16189270	16189270	+	Silent	SNP	C	C	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr12:16189270C>G	ENST00000428559.2	+	8	1067	c.855C>G	c.(853-855)ctC>ctG	p.L285L	DERA_ENST00000532964.1_Silent_p.L242L|DERA_ENST00000526530.1_Silent_p.L197L|DERA_ENST00000532573.1_3'UTR	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	285					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				AGCCAGAACTCTTTCGAATAG	0.463000													17	17					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	G	rs121913416		TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr3:41266113C>G	ENST00000349496.5	+	3	390	c.110C>G	c.(109-111)tCt>tGt	p.S37C	CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGAATCCATTCTGGTGCCACT	0.498000	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				9	17					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122217688	122217688	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr2:122217688C>G	ENST00000263710.4	-	12	1435	c.1046G>C	c.(1045-1047)aGa>aCa	p.R349T	CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000541859.1_Missense_Mutation_p.R118T|CLASP1_ENST00000409078.3_Missense_Mutation_p.R349T|CLASP1_ENST00000455322.2_Missense_Mutation_p.R349T|CLASP1_ENST00000541377.1_Missense_Mutation_p.R349T|CLASP1_ENST00000545861.1_Missense_Mutation_p.R117T|CLASP1_ENST00000397587.3_Missense_Mutation_p.R349T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	349					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AAGTAAAGATCTAATCTTTTT	0.348000													19	24					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123197011	123197011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chrX:123197011C>T	ENST00000371160.1	+	19	2067	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q524*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q593*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q593*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	593					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GCAGTTGCCTCAGTACTTTGA	0.279000													23	7					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39177479	39177479	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr9:39177479T>A	ENST00000297668.6	-	6	836	c.763A>T	c.(763-765)Act>Tct	p.T255S	CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.T167S|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.T255S|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.T255S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.T255S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	255	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGAGCAATAGTGGAAGGCAGC	0.493000													7	48					0	0	1	0	0
EIF2S3	1968	broad.mit.edu	37	X	24086205	24086205	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chrX:24086205C>T	ENST00000253039.4	+	9	1245	c.992C>T	c.(991-993)gCt>gTt	p.A331V		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	331						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						CTGCAATATGCTGCTCCAGGC	0.378000													3	41					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	598443	598443	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr11:598443C>G	ENST00000264555.5	+	9	1093	c.965C>G	c.(964-966)aCt>aGt	p.T322S	PHRF1_ENST00000416188.2_Missense_Mutation_p.T322S|PHRF1_ENST00000533464.1_Missense_Mutation_p.T318S|PHRF1_ENST00000413872.2_Missense_Mutation_p.T321S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	322	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGCCTGAGCACTGCCGTGTAT	0.652000													6	18					0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121644761	121644761	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr8:121644761C>G	ENST00000395601.3	-	4	1333	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.E307Q	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	307					muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TCTCTGACCTCAGCAATCACT	0.537000													20	15					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3920971	3920971	+	Silent	SNP	C	C	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr17:3920971C>T	ENST00000381638.2	-	48	7819	c.7695G>A	c.(7693-7695)caG>caA	p.Q2565Q		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2565							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGATCAGCTTCTGGGTCACAG	0.577000													20	26					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111570403	111570403	+	Silent	SNP	G	G	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr5:111570403G>T	ENST00000261486.5	-	12	1291	c.1015C>A	c.(1015-1017)Cgg>Agg	p.R339R	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	339						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGATCAGGCCGGGGAAGCTGA	0.458000													51	58					1.11015e-26	1.19138e-26	1	1	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89083951	89083951	+	RNA	DEL	A	A	-	rs111608027		TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr2:89083951delA	ENST00000393525.3	+	0	576																											CTTTTTTTTCAGTGTATTTCT	0.348													2	4	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176637515	176637516	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr5:176637515_176637516insA	ENST00000439151.2	+	5	2160_2161	c.2115_2116insA	c.(2116-2118)aacfs	p.N706fs	NSD1_ENST00000354179.4_Frame_Shift_Ins_p.N437fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.N603fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.N437fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	706					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTCTCATTAGTAACTCACATAC	0.406			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			26	31	---	---	---	---					
RARS2	57038	broad.mit.edu	37	6	88299652	88299661	+	Frame_Shift_Del	DEL	AGCGCGGCGA	AGCGCGGCGA	-			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr6:88299652_88299661delAGCGCGGCGA	ENST00000369536.5	-	1	60_69	c.15_24delTCGCCGCGCT	c.(13-24)tttcgccgcgctfs	p.FRRA5fs		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	5					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	p.R6C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GGCAAGCAATAGCGCGGCGAAAGCCGCACG	0.667											OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	7	31	---	---	---	---					
GSDMD	79792	broad.mit.edu	37	8	144641505	144641506	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr8:144641505_144641506insAT	ENST00000533063.1	+	3	187_188	c.144_145insAT	c.(145-147)atgfs	p.M49fs	GSDMD_ENST00000526406.1_5'UTR|GSDMD_ENST00000262580.4_5'UTR			P57764	GSDMD_HUMAN	gasdermin D	1										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TCCTCAGGAGCATGGGGTCGGC	0.624													6	10	---	---	---	---					
KNTC1	9735	broad.mit.edu	37	12	123065152	123065152	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr12:123065152delA	ENST00000333479.7	+	33	3094	c.2917delA	c.(2917-2919)aatfs	p.N973fs	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	973					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AATTACAGACAATCTGCAGAA	0.284													2	4	---	---	---	---					
RP11-459F6.3	0	broad.mit.edu	37	16	58173537	58173540	+	RNA	DEL	TTCC	TTCC	-			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chr16:58173537_58173540delTTCC	ENST00000569580.1	+	0	235																											ccctccttctttccttccttcctc	0.505													2	4	---	---	---	---					
DDX3X	1654	broad.mit.edu	37	X	41206631	41206632	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chrX:41206631_41206632insT	ENST00000399959.2	+	16	2691_2692	c.1836_1837insT	c.(1837-1839)ttcfs	p.F613fs	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Frame_Shift_Ins_p.F597fs|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	613	Gly/Ser-rich.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						gcagttccagcttcagcagcag	0.505										HNSCC(61;0.18)			39	13	---	---	---	---					
NXF4	55999	broad.mit.edu	37	X	101826128	101826128	+	RNA	DEL	T	T	-			TCGA-XF-A9T2-01A-11D-A42E-08	TCGA-XF-A9T2-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21176a9-37ea-4522-a159-cdbf61cbc542	93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487	g.chrX:101826128delT	ENST00000360035.2	+	0	3281					NR_002216.1															endometrium(2)|lung(8)	10						TCACCTGTTCTTCTCCCACCC	0.473													2	4	---	---	---	---					
