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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NPHP3	27031	broad.mit.edu	37	3	132423121	132423121	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:132423121C>T	uc003epe.2	-	8	1549	c.1445G>A	c.(1444-1446)tGg>tAg	p.W482*	NPHP3_uc003epf.2_Nonsense_Mutation_p.W237*	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	482					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGTATGTCCCACAGAACATC	0.408000														216			5		0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228755	57228755	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:57228755C>T	uc010lyk.1	-	1	790	c.152G>A	c.(151-153)gGa>gAa	p.G51E	SDR16C5_uc003xsy.1_Missense_Mutation_p.G51E|SDR16C5_uc010lyl.1_Missense_Mutation_p.G51E	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	51					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CCTTCCGAGTCCACTTCCAGC	0.483000														30			19		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36588256	36588256	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:36588256G>A	uc022abu.1	-	14	1496	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	AOAH_uc003tfh.4_Silent_p.I365I|AOAH_uc011kba.2_Silent_p.I333I	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	365					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CATATATAACGATGGCGGGAT	0.438000														38			61		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20683155	20683155	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:20683155C>T	uc010kuh.3	+	6	815	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	379					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.S193L(1)|p.S193*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTACTTTTTCGATTGGCCTG	0.423000														34			50		0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24909400	24909400	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:24909400C>T	uc002dmu.3	+	9	1207	c.976C>T	c.(976-978)Cct>Tct	p.P326S	SLC5A11_uc002dms.3_Missense_Mutation_p.P262S|SLC5A11_uc010vcd.2_Missense_Mutation_p.P291S|SLC5A11_uc002dmt.3_Missense_Mutation_p.P193L|SLC5A11_uc010vce.2_Missense_Mutation_p.P256S|SLC5A11_uc010bxt.3_Missense_Mutation_p.P262S	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	326					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.P326T(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		AATGGTGTTCCCTGGGATGGT	0.527000														93			37		0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160241875	160241875	+	Missense_Mutation	SNP	T	G	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:160241875T>G	uc002uao.3	-	22	3882	c.3477A>C	c.(3475-3477)aaA>aaC	p.K1159N	BAZ2B_uc002uap.3_Missense_Mutation_p.K1123N	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CAAGAGCTGTTTTAGCCTATA	0.323000														11			22		0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538652	152538652	+	Silent	SNP	T	C	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:152538652T>C	uc021oyz.1	-	0	33	c.33A>G	c.(31-33)caA>caG	p.Q11Q	LCE3E_uc001faa.3_Silent_p.Q11Q	NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	Homo sapiens late cornified envelope 3E (LCE3E), mRNA.	11					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		TGGGTGGGGGTTGGCACTGCT	0.562000														42			69		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223286175	223286175	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:223286175G>A	uc021pjl.1	-	0	199	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S	TLR5_uc001hnv.2_Missense_Mutation_p.P67S|TLR5_uc001hnw.2_Missense_Mutation_p.P67S	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	67					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TCCAGAAAGGGGAAGGATGAA	0.537000														81			17		0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446435	29446435	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:29446435C>T	uc003aeg.3	+	7	2266	c.2266C>T	c.(2266-2268)Cag>Tag	p.Q756*	ZNRF3_uc021wnq.1_Nonsense_Mutation_p.Q656*	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	756						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						AGGAAGCTCCCAGGGCTTGTA	0.657000														40			22		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321612	56321612	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:56321612G>A	uc010ygf.2	-	4	1075	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	NLRP11_uc002qlz.3_Missense_Mutation_p.R23C|NLRP11_uc002qmb.3_Missense_Mutation_p.R23C|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	122							ATP binding	p.R122C(2)|p.R122H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAAACGTCACGAAAAAATTTA	0.383000														16			7		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535178	71535178	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:71535178C>T	uc002atb.1	+	3	734	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	219	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCACCAGGTCCCCCAACATGG	0.602000														60			16		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32209518	32209518	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:32209518C>T	uc003tco.2	-	2	223	c.187G>A	c.(187-189)Ggg>Agg	p.G63R		NM_001191058	NP_001177987	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 3, mRNA.	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTGACATTCCCTGTGAGCCCA	0.517000														109			32		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76456130	76456130	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:76456130G>A	uc003yaq.3	+	2	332	c.62G>A	c.(61-63)gGa>gAa	p.G21E	HNF4G_uc003yap.1_Missense_Mutation_p.G21E|HNF4G_uc003yar.3_Missense_Mutation_p.G58E	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	21					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AGAGCAACAGGAAAACACTAT	0.463000														21			28		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52550414	52550414	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:52550414G>A	uc003dej.3	+	38	4261	c.4187G>A	c.(4186-4188)gGg>gAg	p.G1396E	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1396					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGCTGCAAGGGGACGGAAGC	0.632000														81			30		0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22394187	22394187	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:22394187G>A	uc003gqm.1	-	16	2873	c.2608C>T	c.(2608-2610)Cca>Tca	p.P870S	GPR125_uc010ieo.1_Missense_Mutation_p.P726S|GPR125_uc003gql.1_5'UTR	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	870					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GGTCTTGGTGGAGGTGGTGGT	0.373000														53			21		0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137798447	137798447	+	Missense_Mutation	SNP	T	G	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:137798447T>G	uc003vtz.3	+	7	954	c.867T>G	c.(865-867)ttT>ttG	p.F289L	AKR1D1_uc011kqf.2_Missense_Mutation_p.F248L|AKR1D1_uc011kqe.1_Intron|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	289					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCTTTGACTTTTCTCTCACTG	0.398000														23			4		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581311	82581311	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:82581311C>T	uc003uhx.2	-	4	9247	c.8958G>A	c.(8956-8958)ggG>ggA	p.G2986G	PCLO_uc003uhv.2_Silent_p.G2986G|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2917					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCCCCCAATCCCTCTATAAC	0.423000														82			157		0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151451940	151451940	+	Silent	SNP	C	T	T	rs146278742		TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:151451940C>T	uc003ezc.3	+	0	237	c.117C>T	c.(115-117)atC>atT	p.I39I	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	39						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGGATGCCATCGCTAAAACTT	0.363000														8			7		0	0	1	0	0
GAPDHS	26330	broad.mit.edu	37	19	36033244	36033244	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:36033244G>A	uc002oaf.1	+	4	589	c.473G>A	c.(472-474)tGg>tAg	p.W158*	AX747325_uc002oag.3_Intron|AX747325_uc021usq.1_3'UTR	NM_014364	NP_055179	O14556	G3PT_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), mRNA.	158					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	NAD binding|glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CAGATCCCCTGGAGGGCTGTC	0.607000														24			4		0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57149395	57149395	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:57149395C>T	uc010cct.2	+	4	793	c.446C>T	c.(445-447)tCc>tTc	p.S149F	CPNE2_uc002eks.2_Missense_Mutation_p.S123F|CPNE2_uc010ccu.2_Missense_Mutation_p.S123F	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	Homo sapiens copine II (CPNE2), mRNA.	123	C2 2.							p.A148A(2)		central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TAGATCGTCTCCAGCAAGAAG	0.602000														79			13		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545616	82545616	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:82545616G>A	uc003uhx.2	-	6	11975	c.11686C>T	c.(11686-11688)Cct>Tct	p.P3896S	PCLO_uc003uhv.2_Missense_Mutation_p.P3896S|PCLO_uc010lec.3_Missense_Mutation_p.P861S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3827	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTTGGGTAGGAAGAGCAGGG	0.443000														335			90		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254931	51254931	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:51254931C>T	uc021vhh.1	-	0	1402	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	NRXN1_uc021vhg.1_Missense_Mutation_p.E161K|NRXN1_uc021vhi.1_Missense_Mutation_p.E161K|NRXN1_uc021vhj.1_Missense_Mutation_p.E161K|NRXN1_uc021vhk.1_Missense_Mutation_p.E161K	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	161	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGCGCAGTTCCGGGGGCAGC	0.662000														21			4		0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247654918	247654918	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:247654918G>A	uc001icz.2	+	0	549	c.489G>A	c.(487-489)acG>acA	p.T163T		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCCTCAGACGATGCAGCTCT	0.557000														73			33		0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26667998	26667998	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:26667998G>A	uc003gsf.4	+	8	905	c.635G>A	c.(634-636)gGt>gAt	p.G212D	TBC1D19_uc010iew.3_Missense_Mutation_p.G212D|TBC1D19_uc011bxu.2_Missense_Mutation_p.G147D	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	212						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GGACAACTGGGTATAGATGAT	0.343000														36			22		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64142934	64142934	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:64142934G>A	uc003dmf.3	-	4	1090	c.504C>T	c.(502-504)ctC>ctT	p.L168L		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	168	LIM zinc-binding 1.					cytoplasm|nuclear membrane	zinc ion binding	p.L168F(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GATCCACCAGGAGCTCATTGC	0.567000														22			7		0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91009295	91009295	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:91009295C>T	uc002bpl.1	+	15	1940	c.1839C>T	c.(1837-1839)tcC>tcT	p.S613S		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	613					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TCTGGCAGTCCAACAAAGACA	0.413000														68			22		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127472	152127472	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:152127472C>T	uc001ezs.1	-	2	2168	c.2103G>A	c.(2101-2103)ctG>ctA	p.L701L		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	701	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCCAGTGGCTCAGCCCCTCAC	0.557000														177			91		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92623667	92623667	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:92623667G>A	uc001pdj.4	+	24	13079	c.13062G>A	c.(13060-13062)tgG>tgA	p.W4354*	FAT3_uc001pdi.4_Nonsense_Mutation_p.W826*	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4386					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)				CCTATCACTGGGACACCTCTG	0.542000										TCGA Ovarian(4;0.039)				18			9		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18314777	18314777	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:18314777G>A	uc002zng.4	-	20	3251	c.2898C>T	c.(2896-2898)gcC>gcT	p.A966A	MICAL3_uc011agl.2_Silent_p.A966A	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	966	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGATCCGCACGGCCTCCTTCC	0.592000														9			4		0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5800642	5800642	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:5800642C>T	uc003sox.2	-	1	318	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	RNF216_uc010ksz.2_5'UTR|RNF216_uc010kta.2_5'UTR|RNF216_uc003soy.2_Missense_Mutation_p.R20Q|RNF216_uc011jwj.2_5'UTR	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	20					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ACCTTGTCCCCGATGGCAGTG	0.378000														26			26		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119467364	119467364	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:119467364G>A	uc001ehl.1	-	3	595	c.280C>T	c.(280-282)Cct>Tct	p.P94S		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	200						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.H93>?(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGAGAATCAGGGTGTATATAA	0.458000														125			122		0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97529495	97529495	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:97529495G>A	uc002sxg.4	-	9	1757	c.1526C>T	c.(1525-1527)cCc>cTc	p.P509L	SEMA4C_uc002sxf.4_5'Flank|SEMA4C_uc002sxe.3_5'Flank|SEMA4C_uc002sxh.4_Missense_Mutation_p.P456L	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	456	PSI.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GTGAACCCAGGGCCCCAGGCT	0.592000														20			20		0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33749390	33749390	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:33749390C>T	uc002hji.4	-	1	1035	c.658G>A	c.(658-660)Gag>Aag	p.E220K	SLFN12_uc002hjj.4_Missense_Mutation_p.E220K|SLFN12_uc010cts.3_Missense_Mutation_p.E220K	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	220							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGAGAATCTCTTTAATTCGT	0.313000														56			18		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145113014	145113014	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:145113014G>A	uc003zar.3	-	7	1069	c.987C>T	c.(985-987)ttC>ttT	p.F329F	OPLAH_uc003zas.1_5'Flank|OPLAH_uc003zat.1_Silent_p.F107F	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	329							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	AGACGTGCTCGAATTCCCCAG	0.667000														77			28		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066570	9066570	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:9066570G>A	uc002mkp.3	-	2	21080	c.20876C>T	c.(20875-20877)tCc>tTc	p.S6959F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6961	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6959F(3)|p.S2592F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCATTTTGGGAAATGCTGGT	0.448000														93			28		0	0	1	0	0
C15orf52	388115	broad.mit.edu	37	15	40629626	40629626	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:40629626C>T	uc001zlh.4	-	6	853	c.837G>A	c.(835-837)ctG>ctA	p.L279L	C15orf52_uc001zli.1_Silent_p.L211L|C15orf52_uc010ucn.2_Silent_p.L69L	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	279										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTTCTCCCCTCAGCTGGCTGC	0.647000														67			12		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580064	82580064	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:82580064C>T	uc003uhx.2	-	5	10129	c.9840G>A	c.(9838-9840)atG>atA	p.M3280I	PCLO_uc003uhv.2_Missense_Mutation_p.M3280I|PCLO_uc010lec.3_Missense_Mutation_p.M245I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3211					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTGCCTCATCATGAACTGGG	0.483000														48			98		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106405705	106405705	+	RNA	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:106405705C>T	uc021ser.1	-	3033		c.50087G>A								Parts of antibodies, mostly variable regions.																		GATGGTTATTCGACTTTTCAC	0.493000														90			67		0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23019375	23019375	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrX:23019375C>T	uc004daj.3	+	0	1298	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	401	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GCGCCCAGACCGACAGACTGT	0.383000														98			5		0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22024875	22024875	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:22024875C>T	uc010gtj.1	+	2	219	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	PPIL2_uc002zvh.4_Missense_Mutation_p.R35C|PPIL2_uc002zvi.4_Missense_Mutation_p.R35C|PPIL2_uc002zvg.4_Missense_Mutation_p.R35C|PPIL2_uc011aij.2_Missense_Mutation_p.R35C	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	35					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	p.R35H(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAAATTTTCGTCGTTTACC	0.368000														46			26		0	0	1	0	0
GPR137B	7107	broad.mit.edu	37	1	236343186	236343186	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:236343186C>T	uc001hxq.3	+	3	786	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_003272	NP_003263	O60478	G137B_HUMAN	Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA.	232						integral to plasma membrane|membrane fraction		p.S231F(1)		endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CAGGGCTCCTCCGTGTGTCAA	0.557000														108			97		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104641436	104641436	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:104641436C>T	uc001yos.4	+	11	2311	c.2311C>T	c.(2311-2313)Ccc>Tcc	p.P771S		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	771					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCGCACGCCTCCCTGCCTGCC	0.726000														13			9		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167792341	167792341	+	Missense_Mutation	SNP	A	C	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:167792341A>C	uc001ger.3	-	28	4371	c.4073T>G	c.(4072-4074)gTg>gGg	p.V1358G	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.V1205G|ADCY10_uc009wvk.3_Missense_Mutation_p.V1266G	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1358					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CCGCCCCAGCACCTGGATCAA	0.468000														39			45		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78848418	78848418	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr9:78848418G>A	uc004akc.2	+	21	3310	c.2772G>A	c.(2770-2772)tgG>tgA	p.W924*		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	625					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCCCCTCATGGAAATTTGAAT	0.502000														7			25		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95603588	95603588	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr12:95603588G>A	uc001tdp.4	-	1	1696	c.1472C>T	c.(1471-1473)tCt>tTt	p.S491F	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	491					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.S491C(2)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AATTCGTAGAGAATTTTCCTC	0.408000														12			66		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17087572	17087572	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:17087572G>A	uc010ock.2	-	1	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'Flank					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GGAGCACCTGGAAGTCATTCG	0.592000														28			8		0	0	1	0	0
TNFSF18	8995	broad.mit.edu	37	1	173010835	173010835	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:173010835C>T	uc001giu.2	-	2	273	c.272G>A	c.(271-273)tGg>tAg	p.W91*		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	91					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TGCCATTTGCCATTTTGAGGG	0.348000														106			48		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106667830	106667830	+	RNA	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:106667830C>T	uc021ser.1	-	1314		c.27097G>A								Parts of antibodies, mostly variable regions.																		TCAGGGACCCCCCAGGCCGTA	0.587000														74			43		0	0	1	0	0
GTF2F1	2962	broad.mit.edu	37	19	6387446	6387447	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:6387446_6387447GG>AA	uc002meq.2	-	4	735_736	c.450_451CC>TT	c.(448-453)gcccgg>gcTTgg	p.R151W	GTF2F1_uc010xjb.1_5'UTR|GTF2F1_uc010xjc.1_Intron	NM_002096	NP_002087	P35269	T2FA_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 1, 74kDa (GTF2F1), mRNA.	151					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	DNA binding|catalytic activity|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GTGCGATGCCGGGCCAGCGGTG	0.629000														69			13		0	0	1	0	0
SLC41A3	54946	broad.mit.edu	37	3	125786895	125786895	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:125786895C>T	uc003eij.3	-	1	394	c.168G>A	c.(166-168)gaG>gaA	p.E56E	SLC41A3_uc003eil.3_Silent_p.E56E|SLC41A3_uc003eik.3_Silent_p.E56E|SLC41A3_uc011bkh.2_Intron|SLC41A3_uc010hsd.1_Silent_p.E56E	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	Homo sapiens solute carrier family 41, member 3 (SLC41A3), transcript variant 1, mRNA.	56						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CCCTGCTAGGCTCAGTCTCCA	0.612000														85			70		0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509746	105509746	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:105509746G>A	uc003yma.3	-	4	1161	c.1034C>T	c.(1033-1035)tCt>tTt	p.S345F	LRP12_uc003ymb.3_Missense_Mutation_p.S326F|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	345	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCCAGAAGAAGAAACAACTGT	0.398000														20			19		0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180144484	180144484	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:180144484C>T	uc001gnz.3	+	2	470	c.395C>T	c.(394-396)tCg>tTg	p.S132L	QSOX1_uc001gny.3_Missense_Mutation_p.S132L	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	132	Thioredoxin.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAGAACGGCTCGGGAGCAGTA	0.547000														49			37		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88423533	88423533	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:88423533T>C	uc002bme.2	-	18	2608	c.2302A>G	c.(2302-2304)Aag>Gag	p.K768E	NTRK3_uc002bmh.2_Missense_Mutation_p.K746E|NTRK3_uc002bmf.2_Missense_Mutation_p.K754E|NTRK3_uc021sua.1_Missense_Mutation_p.K746E	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	768	Protein kinase.		K -> R (in dbSNP:rs55770052).		transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATGGCTGCTTTCCATAGGTG	0.507000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				94			24		0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7842556	7842556	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr12:7842556G>A	uc001qte.3	-	1	1049	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	338					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GTAGAGCATGGAAATGGGAGA	0.478000														3			36		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567174	4567174	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:4567174C>T	uc010qyf.2	+	0	754	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTGCCATCCTGATCTTTTA	0.512000														36			22		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63680174	63680174	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:63680174G>A	uc011kdn.2	+	3	745	c.745G>A	c.(745-747)Gcc>Acc	p.A249T		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										ATGTGGCAAAGCCTTTAGGTG	0.453000														7			11		0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29286936	29286936	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr13:29286936C>T	uc001usj.3	-	2	1483	c.941G>A	c.(940-942)gGa>gAa	p.G314E	SLC46A3_uc001usg.3_Missense_Mutation_p.G239E|SLC46A3_uc001usi.3_Missense_Mutation_p.G314E|SLC46A3_uc001ush.3_Missense_Mutation_p.G314E|SLC46A3_uc001usk.3_Missense_Mutation_p.G239E	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	314					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAGCCATATTCCTAGGAAACT	0.383000														29			62		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31335980	31335980	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:31335980C>T	uc002ebr.3	+	17	2267	c.2169C>T	c.(2167-2169)atC>atT	p.I723I	ITGAM_uc002ebq.3_Silent_p.I722I|ITGAM_uc010can.3_Silent_p.I128I|ITGAM_uc002ebs.1_Silent_p.I128I|ITGAM_uc010vfj.1_5'Flank	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	722					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGAATTGCATCGAGGACCCAG	0.602000														16			6		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72294580	72294580	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:72294580G>A	uc001jrd.4	+	9	1489	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	403										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						GAAGGTATCCGACCGGAGAGC	0.542000														3			5		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169565348	169565348	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:169565348C>T	uc001ggi.4	-	11	1981	c.1916G>A	c.(1915-1917)gGg>gAg	p.G639E	SELP_uc001ggh.3_Missense_Mutation_p.G474E|SELP_uc009wvr.3_Missense_Mutation_p.G639E	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	639					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.G639E(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ACATTGCACCCCTGGAGTAGG	0.468000														102			119		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405896	68405896	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:68405896G>A	uc002ewa.3	-	2	611	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SMPD3_uc010cfe.3_Silent_p.F63F|SMPD3_uc010vlh.2_Silent_p.F63F	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	63					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AGATGGGCGTGAAGAGGGCAG	0.657000														21			9		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278832	152278832	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:152278832C>T	uc001ezu.1	-	2	8566	c.8530G>A	c.(8530-8532)Gag>Aag	p.E2844K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2844	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTTCCTCATTACGTGTT	0.567000									Ichthyosis					616			194		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205585717	205585717	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:205585717G>A	uc001hcy.2	-	4	2503	c.1253C>T	c.(1252-1254)cCt>cTt	p.P418L	SLC45A3_uc021pid.1_Non-coding_Transcript	NM_001973	NP_001964	Q96JT2	S45A3_HUMAN	Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA.	435					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGGGGTGGAAGGTCCATCCAG	0.458000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									34			18		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24834808	24834808	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:24834808C>T	uc001iru.4	+	20	5790	c.5387C>T	c.(5386-5388)tCc>tTc	p.S1796F	KIAA1217_uc001irs.3_Missense_Mutation_p.S1117F|KIAA1217_uc001irt.4_Missense_Mutation_p.S1162F|KIAA1217_uc010qcy.2_Missense_Mutation_p.S1227F|KIAA1217_uc010qcz.2_Missense_Mutation_p.S1202F|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1796	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACTTCCCCCTCCTTACCTGCT	0.493000														43			23		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227919361	227919361	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:227919361C>T	uc021vxr.1	-	29	2910	c.2809G>A	c.(2809-2811)Gag>Aag	p.E937K	COL4A4_uc021vxs.1_Missense_Mutation_p.E937K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	937	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATGCCCTTCTCTCCAGGTTCT	0.547000														45			8		0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813495	248813495	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:248813495C>T	uc010pzo.2	-	0	691	c.691G>A	c.(691-693)Gca>Aca	p.A231T		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E230K(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCCCTCTGCCTCGCTCATC	0.507000														0			9		0	0	1	0	0
TLE6	79816	broad.mit.edu	37	19	2989579	2989579	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:2989579G>A	uc002lwt.2	+	12	1149	c.1040G>A	c.(1039-1041)aGg>aAg	p.R347K	TLE6_uc002lwu.2_Missense_Mutation_p.R224K	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	224					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)		TCAAACAGCAGGAGCCTGCTC	0.662000														22			6		0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27105628	27105628	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:27105628C>T	uc001bmv.1	+	19	5612	c.5239C>T	c.(5239-5241)Cct>Tct	p.P1747S	ARID1A_uc001bmu.1_Missense_Mutation_p.P1530S|ARID1A_uc001bmx.1_Missense_Mutation_p.P593S|ARID1A_uc009vsm.1_Missense_Mutation_p.P75S|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1747					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1740fs*19(1)	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)		GCTACTGGATCCTGGGAGGTT	0.483000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									19			57		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:63453898C>T	uc001xfx.3	-	4	492	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_uc001xfy.3_Silent_p.T147T|KCNH5_uc001xfz.1_Silent_p.T89T|KCNH5_uc001xga.3_Silent_p.T89T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.T147M(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCAAATTTCGTCCAACCTT	0.388000														37			42		0	0	1	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38345582	38345582	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:38345582G>A	uc010cwu.1	+	5	941	c.451G>A	c.(451-453)Ggg>Agg	p.G151R	RAPGEFL1_uc010wfd.1_Missense_Mutation_p.G87R	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.	357					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GGAGCCCGCGGGGCGTGAGGA	0.552000														122			53		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635152	33635152	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr13:33635152G>A	uc001uus.3	+	3	1944	c.1936G>A	c.(1936-1938)Gga>Aga	p.G646R	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	646	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCGAACCAAGGACTGCCGCG	0.637000														82			15		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559889	44559889	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr18:44559889C>T	uc002lcr.1	-	0	2100	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	583	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCCGTAATTCGTCTGTCTCT	0.517000														32			11		0	0	1	0	0
TMED1	11018	broad.mit.edu	37	19	10943698	10943698	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:10943698G>A	uc002mpy.3	-	3	773	c.657C>T	c.(655-657)ttC>ttT	p.F219F	DNM2_uc002mpx.1_3'UTR	NM_006858	NP_006849	Q13445	TMED1_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 1 (TMED1), mRNA.	219					cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						GCTTGTCCTGGAAGAAGCGCT	0.617000														43			14		0	0	1	0	0
LINC00207	388910	broad.mit.edu	37	22	44967325	44967325	+	RNA	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:44967325C>T	uc011aqg.2	+	3		c.328C>T			LINC00207_uc021wre.1_Non-coding_Transcript|LINC00207_uc011aqh.2_Non-coding_Transcript					Homo sapiens long intergenic non-protein coding RNA 207 (LINC00207), transcript variant 1, non-coding RNA.											lung(3)	3						TCTGGAACTTCCTCTGGACAT	0.572000														18			16		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37436376	37436376	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:37436376G>T	uc021ppc.1	+	8	1465	c.1366G>T	c.(1366-1368)Gaa>Taa	p.E456*	ANKRD30A_uc001iza.1_Nonsense_Mutation_p.E456*	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	512						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GATAAATAGAGAAGTAGAAGG	0.289000														12			3		0.004672	0.004672	1	1	0
OSBPL6	114880	broad.mit.edu	37	2	179257198	179257198	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:179257198A>G	uc002uly.3	+	23	3125	c.2581A>G	c.(2581-2583)Aat>Gat	p.N861D	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.N836D|OSBPL6_uc010zfe.2_Missense_Mutation_p.N805D|OSBPL6_uc002ulz.3_Missense_Mutation_p.N800D|OSBPL6_uc002uma.3_Missense_Mutation_p.N840D	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	836					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TATTGAGCTCAATGAGTTAGA	0.468000														24			27		0	0	1	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136381	220136381	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:220136381G>A	uc002vkv.1	+	3	851	c.686G>A	c.(685-687)aGa>aAa	p.R229K	TUBA4B_uc002vku.3_Non-coding_Transcript					Homo sapiens tubulin, alpha 4b (pseudogene) (TUBA4B), non-coding RNA.																		TGGTGGCAGAGATTACCAATG	0.552000														59			14		0	0	1	0	0
DNAJB1	3337	broad.mit.edu	37	19	14627707	14627707	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:14627707C>T	uc002myz.1	-	1	403	c.363G>A	c.(361-363)ggG>ggA	p.G121G	DNAJB1_uc010xnr.1_Silent_p.G21G	NM_006145	NP_006136	P25685	DNJB1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 1 (DNAJB1), mRNA.	121					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TGCCTTCCTCCCCGTTCCGCT	0.547000														24			36		0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93598108	93598108	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:93598108G>A	uc003drb.4	-	12	1884	c.1543C>T	c.(1543-1545)Cgt>Tgt	p.R515C	PROS1_uc010hoo.3_Missense_Mutation_p.R384C|PROS1_uc003dqz.4_Missense_Mutation_p.R384C	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	515	Laminin G-like 2.		R -> C (in PROS1D; secretion of the mutant markedly decreased compared with that of the wild-type; intracellular degradation and impaired secretion of the mutant).|R -> P (in PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.R515H(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GTGGATGGACGAATATTCAAG	0.433000														53			25		0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37420502	37420502	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:37420502C>T	uc011amu.2	+	1	482	c.306C>T	c.(304-306)ttC>ttT	p.F102F	MPST_uc003aqi.1_Silent_p.F82F|MPST_uc003aqm.3_Silent_p.F82F|MPST_uc003aql.3_Silent_p.F82F|MPST_uc003aqj.3_Silent_p.F82F	NM_021126	NP_001123989	P25325	THTM_HUMAN	Homo sapiens mercaptopyruvate sulfurtransferase (MPST), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	82	Rhodanese 1.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						CCGAGCATTTCGCGGAGTACG	0.706000														4			3		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508025	37508025	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:37508025G>A	uc021ppc.1	+	33	3316	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E1073K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1129						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.K1072*(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCAGGAAAAGGAAAATAAATA	0.318000														29			21		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667118	157667118	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:157667118C>A	uc001fqz.4	-	5	948	c.656G>T	c.(655-657)aGg>aTg	p.R219M	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Splice_Site|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Missense_Mutation_p.R219M|FCRL3_uc001frc.1_Missense_Mutation_p.R219M	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	219	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GACATCTGGCCTCTGTGGAGA	0.577000														81			44		5.78141e-17	5.85437e-17	1	1	0
TTC39B	158219	broad.mit.edu	37	9	15175054	15175054	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr9:15175054C>T	uc003zlr.2	-	18	1958	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	TTC39B_uc003zlq.2_Missense_Mutation_p.E544K|TTC39B_uc011lmp.2_Missense_Mutation_p.E476K|TTC39B_uc010mie.2_Missense_Mutation_p.E639K|TTC39B_uc011lmr.2_Missense_Mutation_p.E572K|TTC39B_uc011lmq.2_Missense_Mutation_p.E628K|TTC39B_uc003zlp.2_Missense_Mutation_p.E158K	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	575							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TTGTCAATTTCCCCCTGGCTT	0.408000														13			35		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25281310	25281310	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr13:25281310C>T	uc010aaa.3	+	15	2670	c.2337C>T	c.(2335-2337)atC>atT	p.I779I	ATP12A_uc001upp.3_Silent_p.I773I	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	773					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCGCATCCATCGTCACAGGGG	0.537000														67			14		0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17513423	17513423	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:17513423C>T	uc003wxv.3	-	8	3531	c.3057G>A	c.(3055-3057)cgG>cgA	p.R1019R	MTUS1_uc003wxt.3_Silent_p.R266R|MTUS1_uc011kyg.2_Silent_p.R164R|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Silent_p.R965R|MTUS1_uc003wxs.3_Silent_p.R185R	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	1019						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGTAAGTGTCCCGAAGCTTTT	0.453000														25			32		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368848	86368848	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr13:86368848C>T	uc001vll.1	-	1	2255	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	SLITRK6_uc021rla.1_Missense_Mutation_p.R599Q	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	599						integral to membrane		p.R599*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CGTAAGAGATCGTAAAATAGT	0.418000														73			81		0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003615	119003615	+	Silent	SNP	G	A	A	rs363388	byFrequency	TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:119003615G>A	uc001ldd.2	+	2	418	c.255G>A	c.(253-255)tcG>tcA	p.S85S	SLC18A2_uc009xyy.2_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	85					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ATGATAACTCGACTATGGTCA	0.532000														29			22		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111019567	111019567	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrX:111019567C>T	uc004epl.1	-	10	3815	c.2896G>A	c.(2896-2898)Gaa>Aaa	p.E966K		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	966					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACTTGTTCTTCCTGTCCATCA	0.433000														10			16		0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42849681	42849681	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:42849681C>T	uc002ihh.3	+	6	590	c.590C>T	c.(589-591)cCc>cTc	p.P197L	ADAM11_uc010wjd.2_5'UTR	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	197					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CTCCCAGATCCCCTCGGATGC	0.662000														4			5		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588324	247588324	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:247588324G>A	uc001icr.3	+	4	1717	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	NLRP3_uc001ics.3_Missense_Mutation_p.E527K|NLRP3_uc001icu.3_Missense_Mutation_p.E527K|NLRP3_uc001icw.3_Missense_Mutation_p.E527K|NLRP3_uc001icv.3_Missense_Mutation_p.E527K|NLRP3_uc010pyw.2_Missense_Mutation_p.E525K|NLRP3_uc001ict.1_Missense_Mutation_p.E525K	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	527	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.Q526K(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GACTTTCCAGGAGTTCTTTGC	0.512000														54			10		0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														21			4		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117062911	117062911	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr9:117062911C>T	uc011lxl.2	+	50	4645	c.4645C>T	c.(4645-4647)Cct>Tct	p.P1549S	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1549	Collagen-like 15.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACAGGGCCCGCCTGGAGACAT	0.622000														4			18		0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839806	40839806	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:40839806C>T	uc002iay.3	+	7	1329	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	371					axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding	p.F371F(2)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTCACAACTTCGTTCAAGTGC	0.607000														33			60		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394514	86394514	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:86394514G>A	uc003uid.3	+	1	1152	c.53G>A	c.(52-54)gGa>gAa	p.G18E	GRM3_uc010lef.3_Missense_Mutation_p.G16E|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	18					synaptic transmission	integral to plasma membrane		p.G18E(2)|p.K17N(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTTTCAAAGGGATTTTTACTC	0.398000														93			18		0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141321400	141321400	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:141321400G>A	uc003yvh.2	-	9	1878	c.1863C>T	c.(1861-1863)ctC>ctT	p.L621L	TRAPPC9_uc003yvj.2_Silent_p.L523L|TRAPPC9_uc003yvi.1_Silent_p.L514L	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	523					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGCCGCCAGGGAGGGCGATGG	0.557000														19			25		0	0	1	0	0
IST1	9798	broad.mit.edu	37	16	71961519	71961519	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:71961519C>T	uc002fbj.1	+	11	1226	c.943C>T	c.(943-945)Cct>Tct	p.P315S	IST1_uc010cgh.1_Missense_Mutation_p.P315S|IST1_uc002fbk.1_Silent_p.V300V|IST1_uc002fbm.1_Missense_Mutation_p.P302S|IST1_uc002fbl.1_Missense_Mutation_p.P271S|IST1_uc010vml.1_Non-coding_Transcript			P53990	IST1_HUMAN	Homo sapiens increased sodium tolerance 1 homolog (yeast) (IST1), mRNA.	300	Interaction with VTA1.				cell cycle|cell division	ER-Golgi intermediate compartment|cytoplasmic membrane-bounded vesicle	protein binding										CTAATTAGGTCCTGGACCCAA	0.453000														110			69		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57963426	57963426	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr12:57963426G>A	uc001sor.1	+	10	1285	c.1077G>A	c.(1075-1077)acG>acA	p.T359T	KIF5A_uc010srr.1_Silent_p.T270T	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	359					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.T359M(2)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						agaaggagaCGATTGCGAAGC	0.527000														3			46		0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45633728	45633728	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:45633728G>A	uc001wwd.4	+	9	1847	c.1748G>A	c.(1747-1749)gGc>gAc	p.G583D	FANCM_uc001wwc.2_Missense_Mutation_p.G583D|FANCM_uc010anf.3_Missense_Mutation_p.G557D|FANCM_uc001wwe.4_Intron	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	583	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAACGTCAAGGCAGGATAGTT	0.403000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					15			17		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120465350	120465350	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:120465350G>A	uc001eik.3	-	26	5208	c.4911C>T	c.(4909-4911)gaC>gaT	p.D1637D		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1637	Negative regulatory region (NRR).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAAGCAGTGGTCTGAGTCTT	0.542000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					110			145		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138662768	138662768	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr9:138662768C>T	uc011mdq.2	+	17	1909	c.1835C>T	c.(1834-1836)cCc>cTc	p.P612L	KCNT1_uc011mdr.2_Missense_Mutation_p.P439L|KCNT1_uc010nbf.3_Missense_Mutation_p.P567L|KCNT1_uc004cgo.1_Missense_Mutation_p.P361L	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	612						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AACCCGGGGCCCCGGCACATC	0.607000														0			6		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31196837	31196837	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrX:31196837C>T	uc004dda.1	-	69	10416	c.10172G>A	c.(10171-10173)cGa>cAa	p.R3391Q	DMD_uc004dcq.1_Missense_Mutation_p.R662Q|DMD_uc004dcr.1_Missense_Mutation_p.R931Q|DMD_uc004dcs.1_Missense_Mutation_p.R931Q|DMD_uc004dct.1_Missense_Mutation_p.R931Q|DMD_uc004dcu.1_Missense_Mutation_p.R931Q|DMD_uc004dcv.1_Missense_Mutation_p.R931Q|DMD_uc004dcw.2_Missense_Mutation_p.R2047Q|DMD_uc004dcx.2_Missense_Mutation_p.R2050Q|DMD_uc004dcz.2_Missense_Mutation_p.R3268Q|DMD_uc004dcy.1_Missense_Mutation_p.R3387Q|DMD_uc004ddb.1_Missense_Mutation_p.R3383Q|DMD_uc004dcp.1_Missense_Mutation_p.R323Q|DMD_uc011mkb.1_Missense_Mutation_p.R323Q|DMD_uc004dcm.1_Missense_Mutation_p.R323Q|DMD_uc004dcn.1_Missense_Mutation_p.R323Q|DMD_uc004dco.1_Missense_Mutation_p.R323Q|DMD_uc010ngm.3_Missense_Mutation_p.R323Q	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3391	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTAGCCCATTCGGGGATGCTT	0.423000														22			26		0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8738712	8738712	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:8738712C>T	uc002glq.1	-	7	763	c.523G>A	c.(523-525)Gag>Aag	p.E175K	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	175					platelet activation	cytosol											GCCTCGATCTCCAGTAGCAGA	0.637000														23			4		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38151622	38151622	+	Missense_Mutation	SNP	T	G	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:38151622T>G	uc003chp.1	+	22	3314	c.3293T>G	c.(3292-3294)cTc>cGc	p.L1098R	DLEC1_uc003cho.1_Missense_Mutation_p.L1098R|DLEC1_uc010hgv.1_Missense_Mutation_p.L1101R|DLEC1_uc003chr.1_Missense_Mutation_p.L204R|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	1098					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAAAGGAGCTCCGCCTGGAC	0.597000														89			37		0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84245374	84245374	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:84245374G>A	uc002bjw.3	+	5	700	c.505G>A	c.(505-507)Gat>Aat	p.D169N	SH3GL3_uc010uot.1_Missense_Mutation_p.D169N|SH3GL3_uc002bjx.3_Missense_Mutation_p.D100N|SH3GL3_uc002bju.3_Missense_Mutation_p.D177N|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	169	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.L169L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						CCTGGATTACGATTATAAAAA	0.418000														32			19		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377324	55377324	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:55377324C>T	uc002qhl.4	+	6	1128	c.1065C>T	c.(1063-1065)ctC>ctT	p.L355L	KIR3DL2_uc002qho.4_Silent_p.L355L|KIR3DL2_uc010esh.3_Silent_p.L338L			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	355					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		tcatcctcctcctcttctttc	0.502000														8			24		0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209782395	209782395	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:209782395T>C	uc001hhd.3	+	7	808	c.706T>C	c.(706-708)Tat>Cat	p.Y236H	CAMK1G_uc001hhf.4_Missense_Mutation_p.Y236H|CAMK1G_uc001hhe.3_Missense_Mutation_p.Y236H	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	236	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.Y235*(1)		breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GGAGGGCTACTATGAGTTTGA	0.493000														114			76		0	0	1	0	0
OAZ3	51686	broad.mit.edu	37	1	151739683	151739683	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:151739683C>T	uc010pdm.2	+	1	279	c.209C>T	c.(208-210)tCc>tTc	p.S70F	OAZ3_uc010pdl.2_Missense_Mutation_p.S26F	NM_016178	NP_057262	Q9UMX2	OAZ3_HUMAN	Homo sapiens ornithine decarboxylase antizyme 3 (OAZ3), transcript variant 1, mRNA.	23					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CAGCCCCGTTCCTGCCTCCAG	0.512000														77			99		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173517613	173517613	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:173517613G>T	uc001giz.2	-	11	1799	c.1376C>A	c.(1375-1377)aCa>aAa	p.T459K	SLC9C2_uc009wwe.2_Missense_Mutation_p.T17K|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	459					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TAAAGTTATTGTGTTCTGTAC	0.353000														23			22		5.26018e-13	5.3098e-13	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113529403	113529403	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:113529403C>T	uc003ynu.3	-	27	4775	c.4616G>A	c.(4615-4617)cGa>cAa	p.R1539Q	CSMD3_uc003yns.3_Missense_Mutation_p.R811Q|CSMD3_uc003ynt.3_Missense_Mutation_p.R1499Q|CSMD3_uc011lhx.2_Missense_Mutation_p.R1435Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1539	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCCCCATTTCGAGTCCCATT	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				23			10		0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168493	142168493	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:142168493C>T	uc011kry.1	-	1	396	c.230G>A	c.(229-231)gGa>gAa	p.G77E	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|TRBV5-4_uc022anj.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AGGGAAGTTTCCTCTGCCATT	0.517000														82			13		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367371	107367371	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr9:107367371C>T	uc011lvq.2	-	0	538	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	180					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						GCCAGAATTTCACAGGTGAAA	0.418000														50			45		0	0	1	0	0
ADCYAP1	116	broad.mit.edu	37	18	905392	905392	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr18:905392C>T	uc010dkg.3	+	1	124	c.5C>T	c.(4-6)aCc>aTc	p.T2I	ADCYAP1_uc010dkh.3_Missense_Mutation_p.T2I	NM_001099733	NP_001108	P18509	PACA_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) (ADCYAP1), transcript variant 1, mRNA.	2					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	p.M1I(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CGCAGAATGACCATGTGTAGC	0.637000														27			23		0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147861013	147861013	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:147861013G>A	uc003ikx.4	-	3	363	c.113C>T	c.(112-114)cCg>cTg	p.P38L	TTC29_uc003ikw.4_Missense_Mutation_p.P12L|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.P12L	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	12							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGTAAGCTTCGGGCGTGTCAT	0.428000														14			6		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20429440	20429440	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:20429440C>T	uc002dhe.3	+	2	411	c.264C>T	c.(262-264)atC>atT	p.I88I	ACSM5_uc002dhd.1_Silent_p.I88I	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	88					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GAGCAGAGATCAAGTGGAGCT	0.557000														44			12		0	0	1	0	0
KCMF1	56888	broad.mit.edu	37	2	85280376	85280376	+	Silent	SNP	T	G	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:85280376T>G	uc002sox.4	+	6	1334	c.990T>G	c.(988-990)cgT>cgG	p.R330R		NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN	Homo sapiens potassium channel modulatory factor 1 (KCMF1), mRNA.	330						intracellular	ligase activity|zinc ion binding			ovary(3)	3						CTTTAGTGCGTGAAGAGAGCT	0.488000														24			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179465822	179465822	+	Silent	SNP	C	T	T	rs35647804		TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:179465822C>T	uc021vsy.1	-	236	48330	c.48105G>A	c.(48103-48105)ccG>ccA	p.P16035P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.P9730P|TTN_uc021vta.1_Silent_p.P9663P|TTN_uc021vtb.1_Silent_p.P9538P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16962	Ig-like 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCATTCTTCGGGGGTTTCC	0.458000														53			22		0	0	1	0	0
AIPL1	23746	broad.mit.edu	37	17	6329137	6329137	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:6329137G>A	uc002gcp.3	-	5	893	c.798C>T	c.(796-798)gcC>gcT	p.A266A	AIPL1_uc021toq.1_Silent_p.A227A|AIPL1_uc002gcq.3_Silent_p.A206A|AIPL1_uc002gcr.3_Silent_p.A203A|AIPL1_uc010clk.3_Silent_p.A244A|AIPL1_uc010cll.3_Silent_p.A242A|AIPL1_uc021tor.1_3'UTR|AIPL1_uc002gcs.3_3'UTR	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	266					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		GCACGTAGTAGGCCTTCACGA	0.652000														21			9		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582602	82582602	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:82582602G>A	uc003uhx.2	-	4	7956	c.7667C>T	c.(7666-7668)tCc>tTc	p.S2556F	PCLO_uc003uhv.2_Missense_Mutation_p.S2556F|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2487					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S2556F(4)|p.S2487F(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAGGTAGGGGAAGGCAATTT	0.398000														38			57		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239523	3239523	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrX:3239523C>T	uc004crg.4	-	4	4360	c.4203G>A	c.(4201-4203)ggG>ggA	p.G1401G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1401						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TAAGATTTTCCCCAGAAGTGG	0.507000														4			6		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323920	31323920	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr18:31323920C>T	uc010dmg.1	+	11	4163	c.4108C>T	c.(4108-4110)Cct>Tct	p.P1370S	ASXL3_uc002kxq.2_Missense_Mutation_p.P1077S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAACAGATTTCCTTCTGAGAA	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			26		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57918212	57918212	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:57918212G>A	uc002emt.2	-	32	3677	c.3612C>T	c.(3610-3612)tcC>tcT	p.S1204S	CNGB1_uc010cdh.2_Silent_p.S1198S	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1204					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.S1204A(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCTCCCAAGGGAGGCAGGCG	0.746000														29			26		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47840382	47840382	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:47840382G>A	uc003tny.2	-	53	8092	c.8058C>T	c.(8056-8058)ttC>ttT	p.F2686F	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2686					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCAGCCCGGGGAAGGCGTCTG	0.577000														124			18		0	0	1	0	0
HESX1	8820	broad.mit.edu	37	3	57232472	57232472	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:57232472C>T	uc003din.4	-	2	740	c.406G>A	c.(406-408)Gat>Aat	p.D136N		NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN	Homo sapiens HESX homeobox 1 (HESX1), mRNA.	136						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		TCTCTAATATCGATACCAGGA	0.289000														11			12		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816886	82816886	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr5:82816886G>A	uc003kii.3	+	6	3117	c.2761G>A	c.(2761-2763)Gaa>Aaa	p.E921K	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E921K|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	921	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGCAACCATGGAAGGAAGTGC	0.423000														15			49		0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475610	5475610	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:5475610G>A	uc010qzf.2	+	0	973	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGACAAAGGAAATCCGCCG	0.438000														76			26		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490737	65490737	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:65490737G>A	uc002aon.2	-	8	2068	c.1887C>T	c.(1885-1887)ccC>ccT	p.P629P		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	629					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AAATATTCCGGGGATCCAGGA	0.527000														116			33		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281232	152281232	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:152281232C>T	uc001ezu.1	-	2	6166	c.6130G>A	c.(6130-6132)Gcc>Acc	p.A2044T		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2044	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCACTGGCCTGACTACCA	0.562000									Ichthyosis					356			379		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26734223	26734223	+	Missense_Mutation	SNP	G	A	A	rs145373937		TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:26734223G>A	uc001mra.2	-	1	683	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.R124C	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	124					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.R124C(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCAGCATAGCGAACTGGTTTG	0.398000														107			50		0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89199420	89199420	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:89199420C>T	uc003hrm.4	-	1	706	c.316G>A	c.(316-318)Gag>Aag	p.E106K	PPM1K_uc010ikp.1_Missense_Mutation_p.E106K|PPM1K_uc003hrn.3_Missense_Mutation_p.E106K	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1K (PPM1K), nuclear gene encoding mitochondrial protein, mRNA.	106	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TCTTCATTCTCTTTCCGTTTG	0.493000														13			9		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36342507	36342507	+	Silent	SNP	C	T	T	rs145683325		TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:36342507C>T	uc002oby.3	-	1	282	c.126G>A	c.(124-126)acG>acA	p.T42T		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	42	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	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)			CCTCCACCACCGTCAGGTTTT	0.677000														18			5		0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42191041	42191041	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:42191041G>A	uc002ori.1	-	1	178	c.176C>T	c.(175-177)tCc>tTc	p.S59F	CEACAM7_uc010ehx.2_Missense_Mutation_p.S59F|CEACAM7_uc010ehy.1_Missense_Mutation_p.S59F	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	59	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		AAGATTCTGGGACTCATTATG	0.438000														40			75		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31392326	31392326	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:31392326A>G	uc002ebt.3	+	28	3452	c.3385A>G	c.(3385-3387)Aaa>Gaa	p.K1129E	ITGAX_uc002ebu.1_Missense_Mutation_p.K1129E	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	1129					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGTACTGTACAAAGTGAGTGT	0.532000														27			16		0	0	1	0	0
CDR2	1039	broad.mit.edu	37	16	22361043	22361043	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:22361043G>A	uc002dkn.3	-	2	628	c.320C>T	c.(319-321)gCc>gTc	p.A107V		NM_001802	NP_001793	Q01850	CDR2_HUMAN	Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA.	107						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TTGCTGTGAGGCCTTGCTGTC	0.413000														81			64		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78412625	78412625	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:78412625T>C	uc001ozl.4	-	27	5496	c.5033A>G	c.(5032-5034)aAt>aGt	p.N1678S		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1678					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AAGGCCGGAATTGCCATGGTA	0.453000														7			11		0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40625172	40625172	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:40625172G>A	uc003xnr.3	-	2	326	c.180C>T	c.(178-180)ctC>ctT	p.L60L	ZMAT4_uc003xns.3_Silent_p.L60L	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	60						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TTTCTGACCGGAGCCTCTTGG	0.473000														26			5		0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574496	22574496	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:22574496C>T	uc002nqt.2	-	3	1663	c.1541G>A	c.(1540-1542)gGa>gAa	p.G514E		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GGGTTTCTCTCCAGTATGAAT	0.388000														16			7		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7579887	7579887	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr6:7579887G>T	uc003mxp.1	+	22	3743	c.3464G>T	c.(3463-3465)tGg>tTg	p.W1155L	DSP_uc003mxq.1_Missense_Mutation_p.W1155L|DSP_uc021yle.1_Missense_Mutation_p.W1155L	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1155	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AACCTTGGTTGGCAGAAATTA	0.433000														41			21		2.89027e-11	2.90839e-11	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128341887	128341887	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:128341887G>A	uc002top.3	+	12	1587	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	512	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTCCTGGACGAAGAAAGCCG	0.602000														49			16		0	0	1	0	0
TTC9	23508	broad.mit.edu	37	14	71134364	71134364	+	Missense_Mutation	SNP	T	G	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:71134364T>G	uc001xmi.2	+	1	833	c.490T>G	c.(490-492)Ttc>Gtc	p.F164V		NM_015351	NP_056166	Q92623	TTC9A_HUMAN	Homo sapiens tetratricopeptide repeat domain 9 (TTC9), mRNA.	164							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		AGGGGAGAACTTCAAGGCCCT	0.512000														59			41		0	0	1	0	0
B3GAT2	135152	broad.mit.edu	37	6	71603952	71603952	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr6:71603952G>A	uc003pfw.3	-	1	1271	c.615C>T	c.(613-615)tcC>tcT	p.S205S	B3GAT2_uc003pfv.3_Silent_p.S205S			Q9NPZ5	B3GA2_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) (B3GAT2), mRNA.	205					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CAGGCCAGACGGAGACCTTGC	0.517000														7			35		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108192078	108192078	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:108192078C>T	uc001pkb.1	+	44	6888	c.6503C>T	c.(6502-6504)tCg>tTg	p.S2168L	ATM_uc009yxr.1_Missense_Mutation_p.S2168L|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.S820L|ATM_uc001pkg.1_Missense_Mutation_p.S525L	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2168	FAT.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCTGTGTATTCGCTCTATCCC	0.413000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				37			29		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813896	123813896	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:123813896G>A	uc010sab.2	-	0	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S217Y(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCAGGCATAGGAAACTGAGGT	0.542000														22			12		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545582	234545582	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:234545582G>A	uc002vur.3	+	0	460	c.414G>A	c.(412-414)aaG>aaA	p.K138K	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Silent_p.K138K	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	141					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AATACTTAAAGGAGAGTTCTT	0.368000														43			64		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48667891	48667891	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:48667891C>T	uc002irk.1	+	9	2733	c.2361C>T	c.(2359-2361)gcC>gcT	p.A787A	CACNA1G_uc002iri.1_Silent_p.A787A|CACNA1G_uc002irj.1_Silent_p.A787A|CACNA1G_uc002irl.1_Silent_p.A787A|CACNA1G_uc002irm.1_Silent_p.A787A|CACNA1G_uc002irn.1_Silent_p.A787A|CACNA1G_uc002iro.1_Silent_p.A787A|CACNA1G_uc002irp.1_Silent_p.A787A|CACNA1G_uc002irq.1_Silent_p.A787A|CACNA1G_uc002irr.1_Silent_p.A787A|CACNA1G_uc002irs.1_Silent_p.A787A|CACNA1G_uc002irt.1_Silent_p.A787A|CACNA1G_uc002iru.1_Silent_p.A787A|CACNA1G_uc002irv.1_Silent_p.A787A|CACNA1G_uc002irw.1_Silent_p.A787A|CACNA1G_uc002irx.1_Silent_p.A700A|CACNA1G_uc002iry.1_Silent_p.A700A|CACNA1G_uc002isg.1_Silent_p.A700A|CACNA1G_uc002ish.1_Silent_p.A700A|CACNA1G_uc002isi.1_Silent_p.A700A|CACNA1G_uc002irz.1_Silent_p.A700A|CACNA1G_uc002isa.1_Silent_p.A700A|CACNA1G_uc002isd.1_Silent_p.A700A|CACNA1G_uc002isb.1_Silent_p.A700A|CACNA1G_uc002isc.1_Silent_p.A700A|CACNA1G_uc002ise.1_Silent_p.A700A|CACNA1G_uc002isf.1_Silent_p.A700A	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	787					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCTCTTTGCCCTGGAGATGC	0.522000														43			17		0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79610720	79610720	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:79610720C>T	uc003ybd.3	+	6	778	c.676C>T	c.(676-678)Cat>Tat	p.H226Y		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.	226																	ATCTCCCTCTCATAAAGGGAT	0.343000														25			29		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460171	107460171	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:107460171G>A	uc002tdq.3	-	1	382	c.263C>T	c.(262-264)tCc>tTc	p.S88F	ST6GAL2_uc002tdr.3_Missense_Mutation_p.S88F|ST6GAL2_uc002tds.3_Missense_Mutation_p.S88F	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	88					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.G87S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGCATGAAAGGAACCGGCTGG	0.632000														24			38		0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626652	49626652	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr20:49626652G>A	uc002xwa.4	-	1	519	c.224C>T	c.(223-225)tCg>tTg	p.S75L	KCNG1_uc002xwb.3_Missense_Mutation_p.S75L	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	75						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCAGGGCAGCGAGTACTTGAT	0.672000														63			27		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54141904	54141904	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:54141904C>T	uc003xrh.1	-	2	1471	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	OPRK1_uc022aup.1_Missense_Mutation_p.D246N|OPRK1_uc003xri.1_Missense_Mutation_p.D366N|OPRK1_uc010lyc.1_Missense_Mutation_p.D277N	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	366					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TAAGCAGGATCCTGAACTGTA	0.478000														41			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056805	9056805	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:9056805C>T	uc002mkp.3	-	2	30845	c.30641G>A	c.(30640-30642)tGg>tAg	p.W10214*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10216	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTGGAGGCCAGTCTGGGGA	0.468000														24			24		0	0	1	0	0
PAWR	5074	broad.mit.edu	37	12	80083553	80083553	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr12:80083553C>T	uc001syx.3	-	1	758	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_002583	NP_002574	Q96IZ0	PAWR_HUMAN	Homo sapiens PRKC, apoptosis, WT1, regulator (PAWR), mRNA.	158	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CGCCGCTTCTCCCGCAGCTTC	0.731000														5			3		0	0	1	0	0
LGALS4	3960	broad.mit.edu	37	19	39293030	39293030	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:39293030G>A	uc002ojg.3	-	7	799	c.585C>T	c.(583-585)ttC>ttT	p.F195F		NM_006149	NP_006140	P56470	LEG4_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 4 (LGALS4), mRNA.	195	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCAGCCTCCCGAAATATGGCA	0.502000														33			40		0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28196959	28196959	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:28196959G>A	uc001zbh.4	-	17	2032	c.1922C>T	c.(1921-1923)tCg>tTg	p.S641L	OCA2_uc010ayv.3_Missense_Mutation_p.S617L	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	641					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding	p.S641W(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGGACAAACGAATTGAGGAA	0.443000									Oculocutaneous Albinism					30			12		0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	94562	94562	+	Silent	SNP	G	A	A	rs145350711	byFrequency	TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:94562G>A	uc001ifi.2	-	2	270	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	90					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CACCGAAGATGAAGTTGTCTG	0.637000														29			18		0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48384804	48384804	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:48384804C>T	uc003gya.4	+	4	1226	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	SLAIN2_uc003gyb.1_Missense_Mutation_p.S31L	NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	Homo sapiens SLAIN motif family, member 2 (SLAIN2), mRNA.	361						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CCCAGAAATTCACCTCGTTCA	0.488000														28			41		0	0	1	0	0
LOC646813	646813	broad.mit.edu	37	11	50375299	50375299	+	RNA	SNP	T	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:50375299T>A	uc001nhe.2	+	2		c.190T>A			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		CACATTGTTCTTATGTCTGCT	0.333000														7			9		0	0	1	0	0
LOC401127	401127	broad.mit.edu	37	4	39482054	39482054	+	RNA	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:39482054C>T	uc011byn.2	+	0		c.180C>T								Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.																		CAGACTGCCTCTGTCATCAGG	0.662000														8			5		0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118225630	118225630	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:118225630C>T	uc001lcl.4	+	7	978	c.877C>T	c.(877-879)Cct>Tct	p.P293S		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	293					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CATTCTTAATCCTGATGCATT	0.308000														15			10		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85341909	85341909	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:85341909C>T	uc002bld.3	+	7	3163	c.2827C>T	c.(2827-2829)Ccc>Tcc	p.P943S	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	943					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTCGAGTTCCCACTGAGCC	0.652000														29			7		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14763916	14763916	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr18:14763916C>T	uc010dlo.2	+	6	1232	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.S351L	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	351										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAGAAATTTTCATGGCCAGCA	0.388000														9			3		0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136507525	136507525	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr9:136507525C>T	uc004cel.3	+	2	692	c.683C>T	c.(682-684)aCc>aTc	p.T228I		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	228					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	AGCCAGGAGACCACGTACTGG	0.597000														2			15		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113246630	113246630	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:113246630C>T	uc003ynu.3	-	67	10863	c.10704G>A	c.(10702-10704)aaG>aaA	p.K3568K	CSMD3_uc003yns.3_Silent_p.K2770K|CSMD3_uc003ynt.3_Silent_p.K3528K|CSMD3_uc011lhx.2_Silent_p.K3399K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3568						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTCATTTTCTTCACAGAAG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				75			18		0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614751	36614751	+	Missense_Mutation	SNP	C	T	T	rs139419162		TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:36614751C>T	uc021qge.1	-	0	968	c.968G>A	c.(967-969)gGa>gAa	p.G323E	RAG2_uc021qgc.1_Missense_Mutation_p.G323E|RAG2_uc021qgd.1_Missense_Mutation_p.G323E|RAG2_uc001mwv.4_Missense_Mutation_p.G323E|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	323					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	p.G323E(4)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				AGTTCCATTTCCCATGTTGCT	0.383000									Familial Hemophagocytic Lymphohistiocytosis					71			34		0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12384540	12384540	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:12384540G>A	uc010xmj.2	-	4	879	c.674C>T	c.(673-675)aCc>aTc	p.T225I	ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Missense_Mutation_p.T177I	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AGAACTGAAGGTTTTTCCACA	0.423000														27			16		0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33390918	33390918	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:33390918C>T	uc003tdn.1	+	13	2033	c.1520C>T	c.(1519-1521)tCt>tTt	p.S507F	BBS9_uc003tdo.1_Intron|BBS9_uc003tdp.1_Missense_Mutation_p.S507F|BBS9_uc003tdq.1_Intron|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Missense_Mutation_p.S31F|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Missense_Mutation_p.S385F	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	507					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCTGTTGTTTCTTATTCCAGA	0.328000									Bardet-Biedl syndrome					11			29		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203708742	203708742	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:203708742C>T	uc001gzw.3	+	20	4275	c.3378C>T	c.(3376-3378)tcC>tcT	p.S1126S	ATP2B4_uc001gzv.3_3'UTR|ATP2B4_uc001gzx.3_Silent_p.S193S|ATP2B4_uc009xar.3_3'UTR	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	1162					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCAAAAGTCCATCCACAGCT	0.488000														47			62		0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169684707	169684707	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:169684707G>A	uc002ueg.3	+	3	503	c.237G>A	c.(235-237)atG>atA	p.M79I	NOSTRIN_uc002uef.3_Missense_Mutation_p.M79I|NOSTRIN_uc002ueh.3_Missense_Mutation_p.M1I|NOSTRIN_uc010fpu.3_Missense_Mutation_p.M51I	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	79					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CAGAGGGAATGAAATCCACAG	0.463000														15			12		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10258705	10258705	+	Silent	SNP	T	C	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:10258705T>C	uc003bve.1	+	6	952	c.876T>C	c.(874-876)ggT>ggC	p.G292G		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	292	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TGGCAAATGGTTCCCTACAGG	0.552000														32			36		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151271270	151271270	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:151271270C>T	uc010ipj.3	-	48	7513	c.7269G>A	c.(7267-7269)tgG>tgA	p.W2423*	LRBA_uc010ipi.3_Intron|LRBA_uc003ils.4_Nonsense_Mutation_p.W313*|LRBA_uc003ilt.4_Nonsense_Mutation_p.W1071*|LRBA_uc003ilu.4_Nonsense_Mutation_p.W2412*	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2423	BEACH.					Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGAGATCAATCCATTGGTGAA	0.388000														19			23		0	0	1	0	0
C22orf23	84645	broad.mit.edu	37	22	38340208	38340208	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:38340208G>A	uc003auj.2	-	6	837	c.628C>T	c.(628-630)Ctt>Ttt	p.L210F	C22orf23_uc021wpl.1_Missense_Mutation_p.L189F	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN	Homo sapiens chromosome 22 open reading frame 23 (C22orf23), transcript variant 1, mRNA.	210										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CCCTTCCTAAGTTCCTCACTC	0.562000														37			18		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427765	47427765	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:47427765G>A	uc003gxh.3	+	8	1529	c.1155G>A	c.(1153-1155)acG>acA	p.T385T	GABRB1_uc011bze.2_Silent_p.T315T	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	385					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAGTGCTCACGAGCGTGAGCG	0.622000														24			34		0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867292	7867292	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr5:7867292G>A	uc003jeb.3	-	1	1077	c.905C>T	c.(904-906)gCc>gTc	p.A302V	FASTKD3_uc011cmp.2_Missense_Mutation_p.A4V|FASTKD3_uc003jec.3_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jed.3_5'Flank|MTRR_uc003jee.4_5'Flank|MTRR_uc003jef.4_5'Flank|MTRR_uc003jeg.4_5'Flank|MTRR_uc010ito.3_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	302					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AACCACCAGGGCAGTGAGCAT	0.383000														12			52		0	0	1	0	0
PRPF38B	55119	broad.mit.edu	37	1	109241864	109241864	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:109241864C>T	uc001dvv.4	+	5	1145	c.863C>T	c.(862-864)tCt>tTt	p.S288F	PRPF38B_uc001dvw.4_Missense_Mutation_p.S177F|PRPF38B_uc010ouz.2_Missense_Mutation_p.S91F	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN	Homo sapiens PRP38 pre-mRNA processing factor 38 (yeast) domain containing B (PRPF38B), transcript variant 1, mRNA.	288	Arg-rich.				RNA splicing|mRNA processing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GGCCATGGGTCTTCTAGTTTT	0.502000														84			41		0	0	1	0	0
RGS16	6004	broad.mit.edu	37	1	182571103	182571103	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:182571103C>A	uc001gpl.4	-	3	539	c.385G>T	c.(385-387)Gag>Tag	p.E129*	RGS16_uc010pnv.1_Nonsense_Mutation_p.E129*	NM_002928	NP_002919	O15492	RGS16_HUMAN	Homo sapiens regulator of G-protein signaling 16 (RGS16), mRNA.	129	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GCTCTAACCTCTTTAGGGGCC	0.567000											OREG0014036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		99			58		9.10829e-22	9.25241e-22	1	1	0
SP140L	93349	broad.mit.edu	37	2	231248225	231248225	+	Splice_Site	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:231248225G>A	uc010fxm.1	+	8	729	c.638_splice	c.e8-1	p.R213_splice	SP140L_uc010fxo.1_Splice_Site_p.R20_splice	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	213						nucleus	DNA binding|metal ion binding	p.R213K(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGGTTTGAAGGAAAAAAGAAG	0.343000														5			3		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116213214	116213214	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:116213214G>A	uc021pyx.1	-	12	1569	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	ABLIM1_uc021pyw.1_Silent_p.S490S|ABLIM1_uc021pyy.1_Silent_p.S458S|ABLIM1_uc021pyz.1_Silent_p.S424S|ABLIM1_uc021pza.1_Silent_p.S430S|ABLIM1_uc021pze.1_Silent_p.S414S|ABLIM1_uc021pzf.1_Silent_p.S452S|ABLIM1_uc021pyv.1_Intron|ABLIM1_uc021pzb.1_Intron|ABLIM1_uc021pzc.1_Intron|ABLIM1_uc021pzd.1_Intron|ABLIM1_uc021pyu.1_Intron	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	490					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AAGGGAGAGGGGAGTTCCGGC	0.502000														24			8		0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155025184	155025184	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:155025184C>T	uc001fgr.1	+	1	218	c.117C>T	c.(115-117)gcC>gcT	p.A39A	LOC100505666_uc021pam.1_5'Flank|LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Missense_Mutation_p.P49L|ADAM15_uc010peu.1_Silent_p.A56A|ADAM15_uc001fgx.1_Silent_p.A39A|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Silent_p.A39A|ADAM15_uc001fgs.1_Silent_p.A39A|ADAM15_uc010pev.1_Silent_p.A49A|ADAM15_uc001fgu.1_Silent_p.A39A|ADAM15_uc001fgv.1_Silent_p.A39A|ADAM15_uc001fgw.1_Silent_p.A39A	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	39					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CAGAGAAGGCCCCGAGGGAGC	0.577000											OREG0013847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			3		0	0	1	0	0
SPPL2B	56928	broad.mit.edu	37	19	2339852	2339852	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:2339852G>C	uc002lvs.3	+	5	709	c.629G>C	c.(628-630)gGg>gCg	p.G210A	SPPL2B_uc010dsw.1_Missense_Mutation_p.G182A|SPPL2B_uc010dsy.1_Missense_Mutation_p.G182A|SPPL2B_uc010dsz.1_Missense_Mutation_p.G210A|SPPL2B_uc002lvr.3_Missense_Mutation_p.G210A|SPPL2B_uc010dta.1_Missense_Mutation_p.G62A|SPPL2B_uc002lvu.3_Missense_Mutation_p.W15C	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.	210						Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						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)		CGCGACGATGGGCCCGAGAAG	0.647000														6			7		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54543823	54543823	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:54543823C>T	uc002iun.1	+	13	1708	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	558										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATGCTTTATTCATTTTTTAAT	0.418000														34			12		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				70			203		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97356795	97356795	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:97356795G>A	uc010how.1	+	13	2696	c.2653G>A	c.(2653-2655)Gat>Aat	p.D885N	EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.4_Missense_Mutation_p.D277N|EPHA6_uc003drr.4_Missense_Mutation_p.D277N|EPHA6_uc003drt.3_Missense_Mutation_p.D277N|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	790	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GTATCTTTCTGATATGGGTTA	0.453000														91			28		0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35088789	35088789	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr6:35088789C>T	uc003okd.2	-	5	832	c.651G>A	c.(649-651)atG>atA	p.M217I	TCP11_uc003ojz.1_Missense_Mutation_p.M142I|TCP11_uc003oka.2_Missense_Mutation_p.M142I|TCP11_uc003okb.2_Missense_Mutation_p.M141I|TCP11_uc011dsu.1_Missense_Mutation_p.M199I|TCP11_uc003okc.2_Missense_Mutation_p.M141I|TCP11_uc011dsv.1_Missense_Mutation_p.M166I|TCP11_uc011dsw.1_Missense_Mutation_p.M171I	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	204					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.A217S(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TCACCATGTCCATTTTCATCC	0.463000														23			68		0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121203198	121203199	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:121203198_121203199GG>AA	uc001led.3	+	11	1433_1434	c.1200_1201GG>AA	c.(1198-1203)cgggtc>cgAAtc	p.V401I	GRK5_uc009xzh.3_Missense_Mutation_p.V266I	NM_005308	NP_005299	P34947	GRK5_HUMAN	Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA.	401	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	p.R400W(1)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGGACCGCCGGGTCCTGGAGAC	0.624000														14			11		0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90023568	90023568	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:90023568G>A	uc002bnz.2	-	3	618	c.594C>T	c.(592-594)atC>atT	p.I198I	RHCG_uc002boa.2_Non-coding_Transcript|RHCG_uc010bnq.1_Silent_p.I82I	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Homo sapiens Rh family, C glycoprotein (RHCG), mRNA.	198					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.R197L(1)|p.R197Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GTCGGTAGAGGATCCGGGTCA	0.557000														123			29		0	0	1	0	0
SF3A2	8175	broad.mit.edu	37	19	2247808	2247808	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:2247808C>T	uc002lvg.3	+	8	780	c.658C>T	c.(658-660)Cca>Tca	p.P220S	AMH_uc002lvh.2_5'Flank|AMH_uc021umr.1_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	Homo sapiens splicing factor 3a, subunit 2, 66kDa (SF3A2), mRNA.	220	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		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)		GCCCCCGGCTCCACCCAGCCT	0.662000														30			51		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25280099	25280099	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:25280099C>T	uc003abg.2	+	15	1897	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D	SGSM1_uc010guu.1_Silent_p.D525D|SGSM1_uc003abh.2_Silent_p.D580D|SGSM1_uc003abj.2_Silent_p.D525D|SGSM1_uc003abi.1_Silent_p.D500D	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	580						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGTCTCCAGACTTGCCCTGCG	0.577000														24			12		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517205	195517205	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:195517205C>T	uc021xjp.1	-	1	1402	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.G298R	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	421					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)		GAAATGGTTCCACTTACAGAT	0.443000														74			27		0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65633313	65633313	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:65633313C>T	uc001ofv.4	+	14	1890	c.1537C>T	c.(1537-1539)Ccc>Tcc	p.P513S	MUS81_uc001ofx.4_Missense_Mutation_p.P70S	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	513					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CTGTGCCACCCCCAAGGAACA	0.627000								Homologous recombination						43			20		0	0	1	0	0
KPNB1	3837	broad.mit.edu	37	17	45752145	45752145	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:45752145G>A	uc002ilt.1	+	14	2245	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	KPNB1_uc010wkw.1_Missense_Mutation_p.E492K|KPNB1_uc010wkx.1_Missense_Mutation_p.E421K	NM_002265	NP_002256	Q14974	IMB1_HUMAN	Homo sapiens karyopherin (importin) beta 1 (KPNB1), mRNA.	637					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CACACTGGTGGAAGGTCGGTG	0.512000														33			16		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101847806	101847807	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:101847806_101847807CT>TC	uc003uys.4	+	18	3203_3204	c.3076_3077CT>TC	c.(3076-3078)cta>TCa	p.L1026S	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.L1015S	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1015					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCAGGGTGTTCTACCCGTCCAG	0.649000														83			33		0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432476	30432476	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr20:30432476G>A	uc002wwt.1	-	0	945	c.870C>T	c.(868-870)ccC>ccT	p.P290P		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	290					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CAGTTGGCAGGGGCAGTGGGG	0.677000														37			25		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71415384	71415384	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:71415384T>C	uc010dfm.3	-	15	2107	c.2107A>G	c.(2107-2109)Acc>Gcc	p.T703A	SDK2_uc010dfn.2_Missense_Mutation_p.T382A	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	703	Fibronectin type-III 2.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GACTGGTTGGTTCGACCGCTG	0.592000														7			10		0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71428081	71428082	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrX:71428081_71428082GG>AA	uc004eaq.1	-	1	632_633	c.535_536CC>TT	c.(535-537)cct>TTt	p.P179F	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.P56F	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	179	Helicase ATP-binding.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATCCTTGCTAGGACCATGAAAG	0.401000														12			24		0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185705121	185705121	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:185705121C>T	uc003iww.2	-	3	629	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	ACSL1_uc011ckm.1_5'UTR|ACSL1_uc003iwt.1_Missense_Mutation_p.R112Q|ACSL1_uc003iwu.1_Missense_Mutation_p.R112Q|ACSL1_uc011ckn.1_Missense_Mutation_p.R112Q	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	112					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTCTGGTTTCCGAGAGCCTAA	0.418000														48			54		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321411	52321411	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:52321411G>A	uc003xqu.4	-	16	2874	c.2773C>T	c.(2773-2775)Cct>Tct	p.P925S	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	925					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAGGCCAAGGAAAGCCTGTC	0.627000														11			15		0	0	1	0	0
NUDT12	83594	broad.mit.edu	37	5	102888084	102888084	+	Missense_Mutation	SNP	A	C	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr5:102888084A>C	uc003koi.3	-	5	1205	c.1112T>G	c.(1111-1113)gTa>gGa	p.V371G	NUDT12_uc011cvb.2_Missense_Mutation_p.V353G	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 12 (NUDT12), mRNA.	371	Nudix hydrolase.					nucleus|peroxisome	NAD+ diphosphatase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TTCCTCTTCTACTTCTCTCCT	0.443000														7			26		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100522785	100522785	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:100522785G>A	uc011cej.2	+	9	1352	c.1339G>A	c.(1339-1341)Ggt>Agt	p.G447S	MTTP_uc003hvc.4_Missense_Mutation_p.G420S	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	420	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGGTTCTATTGGTAGCAGTGA	0.348000														64			11		0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100992375	100992375	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:100992375C>T	uc010avx.3	+	4	1363	c.1270C>T	c.(1270-1272)Cac>Tac	p.H424Y	WDR25_uc001yhn.3_Missense_Mutation_p.H424Y|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_Missense_Mutation_p.H167Y	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	424										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CCAGATTTTCCACGTAAGAAA	0.532000														30			7		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196620881	196620881	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:196620881G>A	uc002utj.4	-	61	11663	c.11562C>T	c.(11560-11562)ttC>ttT	p.F3854F	DNAH7_uc002uti.4_Silent_p.F337F	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3854					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCTTGCAAGGAAGTCATTCA	0.368000														17			29		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237729996	237729996	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:237729996T>C	uc001hyl.1	+	27	3464	c.3344T>C	c.(3343-3345)gTt>gCt	p.V1115A		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1115	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACATGAGGGTTGGTTGGAGT	0.532000														191			132		0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884892	39884892	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:39884892C>T	uc003axv.4	+	1	1779	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C	MGAT3_uc010gxy.3_Missense_Mutation_p.R514C	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	514					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGGCGGGTGGCGCCACAGGGG	0.657000														9			17		0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73222230	73222230	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:73222230C>T	uc002jng.1	+	10	1332	c.1072C>T	c.(1072-1074)Cat>Tat	p.H358Y	NUP85_uc010wrv.1_Missense_Mutation_p.H312Y|NUP85_uc002jnh.1_5'Flank	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	Homo sapiens nucleoporin 85kDa (NUP85), mRNA.	358					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol|nuclear membrane|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GTTTGACATCCATCAAGTAAT	0.502000														47			16		0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455191	187455191	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:187455191C>T	uc003izd.1	-	1	723	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	235					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TGACAAAATTCCTGAAGTCCT	0.502000														60			58		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34662998	34662998	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:34662998C>A	uc001bxt.3	+	1	1331	c.493C>A	c.(493-495)Cct>Act	p.P165T	C1orf94_uc001bxs.4_5'UTR	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	104							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TCTTGCCCCTCCTCTAGTGGC	0.602000														5			17		1.99824e-07	2.00448e-07	1	1	0
LRP5	4041	broad.mit.edu	37	11	68193564	68193564	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:68193564G>A	uc001ont.3	+	15	3621	c.3546G>A	c.(3544-3546)aaG>aaA	p.K1182K	LRP5_uc009ysg.3_Silent_p.K592K	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1182	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGTGGAGAAGACCACCGGGG	0.617000														54			29		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76789962	76789962	+	Silent	SNP	T	C	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:76789962T>C	uc001jwn.1	+	17	5873	c.5380T>C	c.(5380-5382)Tta>Cta	p.L1794L	KAT6B_uc001jwo.1_Silent_p.L1502L|KAT6B_uc001jwp.1_Silent_p.L1611L	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1794	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CAACATTGGCTTATACGAGCG	0.562000														18			13		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49225175	49225175	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr20:49225175G>A	uc010zyt.2	-	9	1036	c.785C>T	c.(784-786)aCg>aTg	p.T262M	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.T258M|FAM65C_uc002xvn.1_Missense_Mutation_p.T258M	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	258										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCATGCAGCGTGGGGATGAA	0.657000														163			38		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62672618	62672618	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:62672618C>T	uc021ooc.1	+	3	753	c.318C>T	c.(316-318)atC>atT	p.I106I	L1TD1_uc001dae.4_Silent_p.I106I	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	106										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						agcaaataatcaatttagcat	0.318000														11			35		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2760815	2760815	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr12:2760815G>A	uc009zdu.1	+	33	4412	c.4099G>A	c.(4099-4101)Gaa>Aaa	p.E1367K	CACNA1C_uc001qkc.2_Missense_Mutation_p.E1319K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1319K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1319K|CACNA1C_uc001qke.2_Missense_Mutation_p.E1308K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1308K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E1341K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1306K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1308K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E1367K|CACNA1C_uc001qkj.2_Missense_Mutation_p.E1319K|CACNA1C_uc001qkk.2_Missense_Mutation_p.E1319K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1319K|CACNA1C_uc001qkm.2_Missense_Mutation_p.E1308K|CACNA1C_uc001qko.2_Missense_Mutation_p.E1339K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1319K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E1347K|CACNA1C_uc001qku.2_Missense_Mutation_p.E1319K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1336K|CACNA1C_uc001qks.2_Missense_Mutation_p.E1319K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1319K|CACNA1C_uc009zdv.1_Missense_Mutation_p.E1316K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1319K|CACNA1C_uc001qki.1_Missense_Mutation_p.E1055K|CACNA1C_uc010sea.1_Missense_Mutation_p.E10K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1367					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GAACGCAGAGGAAAACTCCCG	0.612000														47			31		0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138341226	138341226	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:138341226C>T	uc011kqh.2	-	5	501	c.501G>A	c.(499-501)acG>acA	p.T167T	SVOPL_uc003vue.3_Silent_p.T15T	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	167						integral to membrane	transmembrane transporter activity	p.A167V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCGGTATTTCGTGGGCAAAA	0.353000														85			20		0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900476	123900476	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:123900476G>A	uc001pzp.1	+	0	147	c.147G>A	c.(145-147)gtG>gtA	p.V49V		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGATCAGGGTGGATTCTCACC	0.557000														52			30		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057632	9057632	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:9057632C>T	uc002mkp.3	-	2	30018	c.29814G>A	c.(29812-29814)gtG>gtA	p.V9938V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9940	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCTGGTGATCACTTCAGTGA	0.448000														72			132		0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58306086	58306086	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:58306086G>A	uc002aex.3	-	2	606	c.333C>T	c.(331-333)gaC>gaT	p.D111D	ALDH1A2_uc010ugv.2_Silent_p.D90D|ALDH1A2_uc002aey.3_Silent_p.D111D|ALDH1A2_uc010ugw.2_Silent_p.D82D|ALDH1A2_uc002aew.3_Silent_p.D15D	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	111					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GTTCCACCAAGTCTGCAAGCT	0.473000														238			60		0	0	1	0	0
ADRA1D	146	broad.mit.edu	37	20	4228604	4228604	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr20:4228604G>A	uc002wkr.2	-	0	1056	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F		NM_000678	NP_000669	P25100	ADA1D_HUMAN	Homo sapiens adrenergic, alpha-1D-, receptor (ADRA1D), mRNA.	334					DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	p.S334S(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CAGGCGCACGGAGAGCGAGCT	0.662000														11			7		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43250671	43250671	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr6:43250671G>A	uc003ouq.1	+	13	2472	c.2193G>A	c.(2191-2193)ggG>ggA	p.G731G	TTBK1_uc021yzs.1_Silent_p.G19G	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	731						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGGCTAATGGGAaggaggaag	0.592000														5			15		0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48190301	48190301	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:48190301G>A	uc002iqf.3	-	10	1593	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	SAMD14_uc002iqe.3_Missense_Mutation_p.R187W|SAMD14_uc002iqg.3_Missense_Mutation_p.R404W	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA.	404										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						AGCTTCTCCCGCTGCCGCGCA	0.682000														48			22		0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71591282	71591282	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:71591282C>T	uc002shx.3	+	4	1940	c.1617C>T	c.(1615-1617)tcC>tcT	p.S539S	ZNF638_uc010fec.2_Silent_p.S645S|ZNF638_uc010yqw.1_Silent_p.S118S|ZNF638_uc002shw.3_Silent_p.S539S|ZNF638_uc002shz.3_Silent_p.S539S|ZNF638_uc002shy.3_Silent_p.S539S|ZNF638_uc002sia.3_Silent_p.S539S|ZNF638_uc002sib.1_Silent_p.S539S	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	539	Arg-rich.				RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding	p.S539S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GATCCAGATCCCGTTCACCAT	0.438000														31			12		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64538032	64538032	+	Splice_Site	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr5:64538032G>A	uc003jtp.3	-	15	2645	c.1831_splice	c.e15-1	p.P611_splice	ADAMTS6_uc003jto.3_Splice_Site|ADAMTS6_uc003jtq.3_Splice_Site|ADAMTS6_uc003jtr.1_Splice_Site_p.P232_splice	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	611	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CAAAGGGCATGGCTAAAATAA	0.378000														11			14		0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187443325	187443325	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:187443325G>A	uc003frp.3	-	7	2258	c.1801C>T	c.(1801-1803)Ccc>Tcc	p.P601S	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.P545S|BCL6_uc010hza.2_Missense_Mutation_p.P499S|BCL6_uc003frq.2_Missense_Mutation_p.P601S	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	601					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CATTTGTAGGGCTTCTCTCCA	0.597000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									83			22		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52529693	52529693	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:52529693C>T	uc010bff.3	-	21	3016	c.2854G>A	c.(2854-2856)Gat>Aat	p.D952N	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	952						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCCACAGCATCCCTGTATCTC	0.512000														111			168		0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6864090	6864090	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:6864090C>T	uc003gjr.4	+	6	2444	c.1981C>T	c.(1981-1983)Cca>Tca	p.P661S	KIAA0232_uc003gjq.4_Missense_Mutation_p.P661S	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	661							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TTCTGTTTTACCATTTTCTTT	0.343000														16			13		0	0	1	0	0
LRCH2	57631	broad.mit.edu	37	X	114422904	114422904	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrX:114422904G>A	uc010nqe.3	-	1	410	c.379C>T	c.(379-381)Cct>Tct	p.P127S	LRCH2_uc004epz.3_Missense_Mutation_p.P127S|RBMXL3_uc011mte.1_5'Flank	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 2 (LRCH2), transcript variant 1, mRNA.	127										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						ACATCAGAAGGAATTTCTGTA	0.294000														4			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9011382	9011382	+	Missense_Mutation	SNP	T	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:9011382T>A	uc002mkp.3	-	35	39055	c.38851A>T	c.(38851-38853)Acc>Tcc	p.T12951S	MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12953	SEA 6.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGCCATGGGTCAGCTGGCTC	0.567000														57			113		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34867112	34867112	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:34867112G>A	uc003teh.1	+	4	706	c.578G>A	c.(577-579)gGt>gAt	p.G193D	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.G193D|NPSR1_uc010kwt.1_Missense_Mutation_p.G40D|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.G127D|NPSR1_uc003tei.1_Missense_Mutation_p.G193D|NPSR1_uc010kww.1_Missense_Mutation_p.G182D|NPSR1_uc011kar.1_Missense_Mutation_p.G127D|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	193						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTGTCCAACGGTGAAGTGCAG	0.537000														31			59		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113520021	113520021	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:113520021G>A	uc010ljy.1	-	3	1157	c.1126C>T	c.(1126-1128)Cca>Tca	p.P376S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	376					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GATGAACTTGGAGACAGAGAC	0.398000														125			38		0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12089873	12089873	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:12089873C>T	uc001ato.2	+	6	1160	c.767C>T	c.(766-768)cCc>cTc	p.P256L		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	256	Interaction with IGFBP2.									autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCTGTGGATCCCGGTACCCCC	0.667000														6			21		0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081458	53081458	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:53081458G>A	uc002aci.1	-	0	752	c.624C>T	c.(622-624)ccC>ccT	p.P208P		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	Homo sapiens one cut homeobox 1 (ONECUT1), mRNA.	208					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TCTTGTCGGTGGGCATGGCGG	0.711000														123			28		0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150501479	150501479	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:150501479C>T	uc003whx.1	+	5	663	c.585C>T	c.(583-585)ctC>ctT	p.L195L		NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	195						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGCCATGCTCTTGGGTGTCT	0.567000														39			55		0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39670314	39670314	+	Silent	SNP	C	T	T	rs150390543		TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:39670314C>T	uc002hwy.3	-	7	1523	c.1332G>A	c.(1330-1332)gtG>gtA	p.V444V	KRT15_uc002hwz.3_Silent_p.V346V|KRT15_uc002hxa.3_Silent_p.V279V|KRT15_uc002hxb.1_3'UTR	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	444	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CCTGTCCATCCACTGACTCTT	0.512000														53			55		0	0	1	0	0
P2RY1	5028	broad.mit.edu	37	3	152553840	152553840	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:152553840T>C	uc003ezq.3	+	0	1105	c.269T>C	c.(268-270)aTg>aCg	p.M90T		NM_002563	NP_002554	P47900	P2RY1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 1 (P2RY1), mRNA.	90					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TCCGTGTACATGTTCAATTTG	0.512000														56			19		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419275	130419275	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrX:130419275G>A	uc004ewe.4	-	4	828	c.545C>T	c.(544-546)gCc>gTc	p.A182V	IGSF1_uc004ewd.3_Missense_Mutation_p.A182V|IGSF1_uc022cdv.1_Missense_Mutation_p.A173V|IGSF1_uc004ewf.2_Missense_Mutation_p.A162V|IGSF1_uc022cdw.1_Missense_Mutation_p.A182V|IGSF1_uc004ewg.3_Missense_Mutation_p.A182V	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	182	Ig-like C2-type 2.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGAGAATATGGCCATTGTCCC	0.512000														23			45		0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43655058	43655058	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrX:43655058C>T	uc004dfz.4	-	6	872	c.696G>A	c.(694-696)gaG>gaA	p.E232E	MAOB_uc011mkx.2_Silent_p.E216E|MAOB_uc011mky.2_Silent_p.E216E	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	232					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TCACAGGCCTCTCCAGCTTCA	0.448000														23			28		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158242713	158242713	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:158242713G>A	uc003ipm.4	+	5	1303	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	GRIA2_uc011cit.2_Missense_Mutation_p.E235K|GRIA2_uc021xtr.1_Missense_Mutation_p.E282K|GRIA2_uc003ipl.4_Missense_Mutation_p.E282K|GRIA2_uc003ipk.4_Missense_Mutation_p.E235K|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	282					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AACACTGGAAGAAAAAGAATA	0.373000														28			17		0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17379639	17379639	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:17379639C>T	uc011jxz.1	+	9	2803	c.2190C>T	c.(2188-2190)ccC>ccT	p.P730P		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	730					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CCCCATACCCCACTACTTCTA	0.398000														23			55		0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78392252	78392252	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:78392252C>T	uc001xui.3	+	8	1253	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Missense_Mutation_p.S317L|ADCK1_uc001xul.3_Missense_Mutation_p.S92L	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	392	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACGGCGCGATCGTGGGACTCG	0.602000														112			115		0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48741114	48741114	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr12:48741114G>A	uc001rrn.2	-	3	501	c.239C>T	c.(238-240)cCc>cTc	p.P80L	ZNF641_uc001rro.2_Missense_Mutation_p.P66L|ZNF641_uc010sls.2_Missense_Mutation_p.P66L	NM_152320	NP_001166152	Q96N77	ZN641_HUMAN	Homo sapiens zinc finger protein 641 (ZNF641), transcript variant 1, mRNA.	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						AGGAACCCAGGGAGCAGACTG	0.537000														5			23		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23893282	23893282	+	Missense_Mutation	SNP	A	C	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:23893282A>C	uc001wjx.3	-	22	2862	c.2756T>G	c.(2755-2757)gTg>gGg	p.V919G		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	919					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATCTCCTTCACCTTGGCCTC	0.527000														114			24		0	0	1	0	0
POTED	317754	broad.mit.edu	37	GL000213.1	108208	108208	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrGL000213.1:108208C>T	uc011mfl.1	-	10	1621	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	525						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						ACGCTGTTTTCACGCAAGAGA	0.358000														17			8		0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47409535	47409535	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr13:47409535G>A	uc010acr.3	-	3	1542	c.853C>T	c.(853-855)Cct>Tct	p.P285S	HTR2A_uc001vbr.3_Missense_Mutation_p.P201S	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	285					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GAACTCTGAGGGAGGAAGCTG	0.478000														49			5		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107615834	107615834	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:107615834G>A	uc003vev.2	-	8	1447	c.1286C>T	c.(1285-1287)tCt>tTt	p.S429F	LAMB1_uc003vew.2_Missense_Mutation_p.S405F|LAMB1_uc003vex.3_Missense_Mutation_p.S405F|LAMB1_uc010ljn.1_Missense_Mutation_p.S491F	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	405	Laminin EGF-like 3.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCATTTTGAGAGCCAGCTGG	0.398000														9			15		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739400	38739400	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:38739400G>A	uc003ciq.3	-	26	5311	c.5311C>T	c.(5311-5313)Ctc>Ttc	p.L1771F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1771					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGACCAGAGAGAGTGTCTGCA	0.483000														40			28		0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350745	134350745	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr9:134350745C>T	uc004can.4	+	14	3284	c.3229C>T	c.(3229-3231)Cgt>Tgt	p.R1077C	PRRC2B_uc010mzj.1_Missense_Mutation_p.R660C|PRRC2B_uc004cao.4_Missense_Mutation_p.R435C	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1077							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GTTCACTTTTCGTGGTCGGCC	0.627000														4			23		0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890656	229890656	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:229890656C>T	uc002vpr.4	-	2	483	c.445G>A	c.(445-447)Gac>Aac	p.D149N	PID1_uc002vps.4_Missense_Mutation_p.D147N|PID1_uc002vpt.4_Missense_Mutation_p.D116N|PID1_uc002vpu.4_Missense_Mutation_p.D67N	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	149	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CCTTTGTGGTCGAGATGATGG	0.587000														45			16		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109746501	109746501	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr9:109746501C>T	uc004bcz.3	+	9	7156	c.6867C>T	c.(6865-6867)tcC>tcT	p.S2289S	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.S2198S|ZNF462_uc004bda.3_Silent_p.S2197S|ZNF462_uc011lvz.2_Silent_p.S246S|AK097706_uc004bdc.1_Intron	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	2289					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTTGCCGGTCCAAACTGTCCA	0.428000														11			40		0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94845870	94845870	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:94845870G>A	uc001ycy.4	-	5	1550	c.996C>T	c.(994-996)atC>atT	p.I332I	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.I332I|SERPINA1_uc010auy.3_Silent_p.I332I|SERPINA1_uc001ycz.4_Silent_p.I332I|SERPINA1_uc010auz.3_Silent_p.I332I|SERPINA1_uc010ava.3_Silent_p.I332I|SERPINA1_uc001ydb.4_Silent_p.I332I|SERPINA1_uc010avb.3_Silent_p.I332I|SERPINA1_uc001ydc.4_Silent_p.I332I|SERPINA1_uc010auw.3_Silent_p.I332I|SERPINA1_uc010aux.3_Silent_p.I332I|SERPINA1_uc001yda.1_Silent_p.I332I	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	332					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AGACCTTAGTGATGCCCAGTT	0.532000														117			59		0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97846714	97846714	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:97846714G>A	uc003upg.3	-	25	3691	c.3486C>T	c.(3484-3486)ccC>ccT	p.P1162P		NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	1162						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						AGCAGCAGACGGGGCCATGGG	0.672000														21			14		0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196529917	196529917	+	Silent	SNP	A	G	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:196529917A>G	uc003fwy.4	+	3	640	c.318A>G	c.(316-318)ctA>ctG	p.L106L		NM_002577	NP_002568	Q13177	PAK2_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 (PAK2), mRNA.	106	Autoregulatory region (By similarity).|GTPase-binding (By similarity).				T cell costimulation|T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CTCGATTACTACAGACCTCCA	0.378000														30			5		0	0	1	0	0
TBPL2	387332	broad.mit.edu	37	14	55903309	55903309	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:55903309G>A	uc001xby.3	-	1	578	c.578C>T	c.(577-579)tCa>tTa	p.S193L		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	193					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						ACAACATTCTGAAATAGGGGT	0.418000														45			40		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21478990	21478990	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr18:21478990C>T	uc002kuq.3	+	45	5883	c.5797C>T	c.(5797-5799)Ctg>Ttg	p.L1933L	LAMA3_uc002kur.3_Silent_p.L1933L|LAMA3_uc002kus.4_Silent_p.L324L|LAMA3_uc002kut.4_Silent_p.L324L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1933	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCAAAAGAACTGGATGTGAA	0.333000														14			14		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179101	55179101	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:55179101G>A	uc002qgp.3	+	10	1419	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	LILRB4_uc002qgq.3_Missense_Mutation_p.E352K|LILRB4_uc010ert.3_Missense_Mutation_p.E394K|LILRB4_uc010eru.3_Missense_Mutation_p.E383K	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	353						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCCACACGATGAAGACCCCCA	0.577000														30			7		0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100853624	100853624	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:100853624G>A	uc003uyd.3	-	13	2058	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	534					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CGGGGTTGTCGAAGATCTGCC	0.607000														14			19		0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29556293	29556293	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr6:29556293C>T	uc003nmr.1	+	0	611	c.572C>T	c.(571-573)tCc>tTc	p.S191F	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	191					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GAAGACACCTCCTACAATGAG	0.547000														101			54		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147068	26147068	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:26147068C>T	uc002dof.3	+	1	1262	c.870C>T	c.(868-870)ccC>ccT	p.P290P		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	290					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TGAGAAACCCCGTGACCAGGG	0.532000														85			57		0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68204357	68204357	+	Splice_Site	SNP	A	G	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:68204357A>G	uc003xxo.2	-	6	1030	c.640_splice	c.e6-1	p.L214_splice		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	214					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGCTTCCTGTAACTGGAAATA	0.353000														16			28		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007457	6007457	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:6007457G>A	uc001mcd.2	-	0	759	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGCATAGGAAACACCAAT	0.517000														46			24		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389640	48389640	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:48389640G>A	uc001jez.3	-	0	1352	c.1238C>T	c.(1237-1239)cCa>cTa	p.P413L		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	413	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGCAACTCTGGGGCCACCCC	0.637000														14			21		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699120	49699120	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:49699120C>T	uc003cxe.4	+	5	9956	c.9842C>T	c.(9841-9843)cCc>cTc	p.P3281L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3281					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCACACTGCCCTGCTGCTAT	0.642000														68			24		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66476448	66476448	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:66476448G>A	uc001ojd.3	-	9	1188	c.1116C>T	c.(1114-1116)atC>atT	p.I372I		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	372					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCTTGCTCTGGATGGTGAAGA	0.602000														40			23		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506399	11506399	+	Missense_Mutation	SNP	T	C	C	rs111543911		TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr12:11506399T>C	uc001qzw.1	-	3	672	c.635A>G	c.(634-636)cAa>cGa	p.Q212R	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	274	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGATTGGGAACTTCG	0.612000														97			4		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41512810	41512810	+	Splice_Site	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:41512810G>A	uc002opr.1	+	4	492	c.485_splice	c.e4-1	p.G162_splice	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	162					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TTCTTCCTAGGGGCCCTCATG	0.512000														9			15		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455278	84455278	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr13:84455278C>T	uc001vlk.3	-	0	1251	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	122						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGTCTGCTTTCGAAAAGACTT	0.468000														76			42		0	0	1	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659527	63659527	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:63659527C>T	uc010lyq.1	+	3	442	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	104						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CTCTGTACATCGGTCATGGTG	0.473000														28			14		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77334253	77334253	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:77334253G>A	uc002ffc.4	-	16	3000	c.2581C>T	c.(2581-2583)Ccc>Tcc	p.P861S	ADAMTS18_uc010chc.1_Missense_Mutation_p.P449S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.P557S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	861	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATGACCTTGGGAAGTGCATAC	0.478000														21			26		0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184931615	184931615	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:184931615C>T	uc003ivz.1	+	2	3059	c.1624C>T	c.(1624-1626)Caa>Taa	p.Q542*	STOX2_uc003iwa.1_Nonsense_Mutation_p.Q231*	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	542					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CGTTAGTCTCCAAAGGGCTCA	0.537000														29			9		0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12203093	12203093	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:12203093C>T	uc003bwm.3	+	8	974	c.810C>T	c.(808-810)caC>caT	p.H270H	SYN2_uc003bwl.1_Silent_p.H270H|SYN2_uc003bwn.3_5'UTR|TIMP4_uc003bwo.3_5'Flank	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	274					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GCCACGCTCACTCAGGCATGG	0.532000														24			12		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55321881	55321881	+	Silent	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:55321881C>T	uc010rig.2	+	0	99	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AGCAAATTTTCCTTTGTCCTA	0.368000										HNSCC(20;0.049)				53			13		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100729538	100729538	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:100729538G>A	uc003yiv.3	+	36	6780	c.6669G>A	c.(6667-6669)ggG>ggA	p.G2223G	VPS13B_uc003yiw.3_Silent_p.G2198G	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2223					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AACACAGCGGGAATCCAGGCC	0.413000														39			12		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466488	56466488	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:56466488C>T	uc002qmh.3	+	2	1135	c.1064C>T	c.(1063-1065)cCg>cTg	p.P355L	NLRP8_uc010etg.3_Missense_Mutation_p.P355L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	355	NACHT.					cytoplasm	ATP binding	p.P355L(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTAACCCTTCCGGGGTTTAAT	0.448000														55			23		0	0	1	0	0
ZNF575	284346	broad.mit.edu	37	19	44039589	44039589	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:44039589C>T	uc002owq.3	+	4	1592	c.785C>T	c.(784-786)gCg>gTg	p.A262V	ZNF575_uc002ows.3_Missense_Mutation_p.A163V	NM_174945	NP_777605	Q86XF7	ZN575_HUMAN	Homo sapiens zinc finger protein 575 (ZNF575), mRNA.	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4		Prostate(69;0.0199)				TCCAAGCTGGCGGCCCACCGC	0.692000														36			3		0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100200610	100200610	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:100200610C>T	uc003hur.2	-	7	1190	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E	LOC100507053_uc003hum.2_Intron	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	359					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	p.E358E(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CAGGTCAAATCCTTCATTTAT	0.328000														19			29		0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799920	159799920	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:159799920C>T	uc001fue.4	+	1	515	c.305C>T	c.(304-306)tCc>tTc	p.S102F		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	102						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GGCAACTTCTCCGTGTTGATG	0.632000														69			30		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067360	190067360	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:190067360C>T	uc001gse.1	-	7	2321	c.2089G>A	c.(2089-2091)Gat>Aat	p.D697N	FAM5C_uc010pot.1_Missense_Mutation_p.D595N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	697						extracellular region		p.Q696L(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGTGCTGAATCCTGGGATCCC	0.468000														71			31		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21907529	21907529	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:21907529G>A	uc003svc.3	+	72	11795	c.11764G>A	c.(11764-11766)Gac>Aac	p.D3922N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3922	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GACCAGATTGGACTTAGTTAA	0.423000									Kartagener syndrome					3			3		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94055774	94055774	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:94055774G>A	uc003ung.1	+	45	3508	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1013					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGAGCCCGGTGAAAAGGGGCC	0.478000										HNSCC(75;0.22)				5			10		0	0	1	0	0
WDR69	164781	broad.mit.edu	37	2	228783561	228783561	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:228783561G>A	uc002vpn.1	+	10	1118	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	WDR69_uc010zlw.1_Missense_Mutation_p.E332K|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	347										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TCATGAAGGTGAAATTTCAAA	0.408000														38			15		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240255764	240255764	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:240255764C>T	uc010pye.2	+	0	580	c.355C>T	c.(355-357)Cca>Tca	p.P119S	FMN2_uc010pyd.2_Missense_Mutation_p.P119S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	119					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACCAAGACTCCAGACCTCAG	0.682000														14			7		0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95847189	95847189	+	Silent	SNP	G	A	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr13:95847189G>A	uc001vmd.4	-	8	1283	c.1164C>T	c.(1162-1164)acC>acT	p.T388T	ABCC4_uc010afk.3_Silent_p.T388T|ABCC4_uc001vme.2_Silent_p.T388T|ABCC4_uc010tih.1_Silent_p.T313T|ABCC4_uc001vmf.2_Silent_p.T345T|ABCC4_uc010afl.1_Silent_p.T345T|ABCC4_uc010afm.1_Silent_p.T401T	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	388					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GTAGCAAAAAGGTCTAAAGAA	0.368000														4			23		0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89685271	89685271	+	Splice_Site	DEL	T	-	-			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:89685271delT	uc001kfb.3	+	3	1197	c.165_splice	c.e3-1	p.R55_splice	PTEN_uc021pvw.1_Intron	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	55	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.Y27fs*1(2)|p.F56V(2)|p.R55fs*2(1)|p.L57fs*6(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTTTTAAGGTTTTTGGATTC	0.254		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	4	---	---	2	---					
ARHGEF17	9828	broad.mit.edu	37	11	73019689	73019689	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:73019689delG	uc001otu.3	+	0	27	c.6delG	c.(4-6)gcgfs	p.A2fs	ARHGEF17_uc021qnc.1_Frame_Shift_Del_p.A2fs	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	2					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCACTATGGCGGACGGGGCAC	0.746													---	4	---	---	2	---					
ATP2A3	489	broad.mit.edu	37	17	3856998	3856998	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:3856998delG	uc002fwy.2	-	1	298	c.125delC	c.(124-126)ccgfs	p.P42fs	ATP2A3_uc002fwz.2_Frame_Shift_Del_p.P42fs|ATP2A3_uc002fxa.2_Frame_Shift_Del_p.P42fs|ATP2A3_uc002fxb.2_Frame_Shift_Del_p.P42fs|ATP2A3_uc002fxc.2_Frame_Shift_Del_p.P42fs|ATP2A3_uc002fxd.2_Frame_Shift_Del_p.P42fs|ATP2A3_uc002fwx.2_Frame_Shift_Del_p.P42fs	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	42					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TTCCTCACTCGGGAGCTCTGC	0.657													---	4	---	---	2	---					
