Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZNF654	55279	broad.mit.edu	37	3	88189810	88189810	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:88189810T>G	uc003dqv.3	+	0	1549	c.1350T>G	c.(1348-1350)atT>atG	p.I450M	CGGBP1_uc003dqu.3_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	Homo sapiens zinc finger protein 654 (ZNF654), mRNA.	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CTTTGAAAATTGATACAAACA	0.383000													72	129					0	0	1	0	0
MBOAT7	79143	broad.mit.edu	37	19	54687463	54687463	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:54687463T>A	uc002qdq.3	-	5	700	c.434A>T	c.(433-435)gAc>gTc	p.D145V	MBOAT7_uc010erg.3_5'UTR|MBOAT7_uc010yem.2_Missense_Mutation_p.D127V|MBOAT7_uc002qdr.3_Missense_Mutation_p.D145V|MBOAT7_uc002qds.3_Missense_Mutation_p.D72V|MBOAT7_uc010yen.2_Missense_Mutation_p.D72V|MBOAT7_uc002qdt.4_Missense_Mutation_p.D145V	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	145					phospholipid biosynthetic process	integral to membrane	acyltransferase activity	p.P144L(1)		endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGAGGGCACGTCGGGCAGCAG	0.617000													41	38					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104302538	104302538	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:104302538G>C	uc004bbn.3	+	2	273	c.183G>C	c.(181-183)atG>atC	p.M61I		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	61					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TGGCAGAAATGTTGGATCAGC	0.438000													38	23					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102112	168102112	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:168102112C>G	uc002udx.3	+	8	4299	c.4210C>G	c.(4210-4212)Cat>Gat	p.H1404D	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.H1229D|XIRP2_uc010fpq.3_Missense_Mutation_p.H1182D|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1229					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAAGAATCACATAATATTAT	0.338000													57	90					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46799004	46799004	+	Silent	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr11:46799004G>C	uc001ndi.2	-	22	2973	c.2847C>G	c.(2845-2847)gtC>gtG	p.V949V	CKAP5_uc009ylg.1_Silent_p.V835V|CKAP5_uc001ndj.2_Silent_p.V949V	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	949					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGTCTCCAAGGACTGTGATGA	0.413000													36	45					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36383187	36383187	+	Silent	SNP	A	A	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr13:36383187A>G	uc001uvf.3	-	12	2017	c.1734T>C	c.(1732-1734)taT>taC	p.Y578Y	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Silent_p.Y271Y|DCLK1_uc010teh.2_Silent_p.Y271Y|DCLK1_uc010abk.3_Silent_p.Y98Y	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	578	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACAGCAGGATATAAGTGATTA	0.473000													39	68					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135013012	135013012	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr10:135013012G>A	uc001llz.1	+	14	2810	c.2809G>A	c.(2809-2811)Gcc>Acc	p.A937T	KNDC1_uc001lma.1_Missense_Mutation_p.A872T|KNDC1_uc001lmb.1_Missense_Mutation_p.A349T	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	937					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.A937T(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TTTCTGTGGCGCCATTTCCGA	0.532000													10	141					0	0	1	0	0
GPR84	53831	broad.mit.edu	37	12	54756649	54756649	+	Silent	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:54756649G>A	uc021qyp.1	-	0	987	c.987C>T	c.(985-987)gcC>gcT	p.A329A	GPR84_uc001sfu.3_Silent_p.A329A	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA.	329						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						TGTAGCTCAGGGCAAAGCAGA	0.537000													12	155					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83739849	83739849	+	Silent	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr7:83739849G>A	uc003uhz.3	-	3	705	c.390C>T	c.(388-390)taC>taT	p.Y130Y		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	130	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.Y130Y(2)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTCCACAGGCGTACAAGTGAG	0.383000													5	115					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48142728	48142728	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr11:48142728T>G	uc001ngp.4	+	3	881	c.526T>G	c.(526-528)Tta>Gta	p.L176V	PTPRJ_uc001ngo.4_Missense_Mutation_p.L176V	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	176	Fibronectin type-III 1.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CATCACAGGCTTACGTCCAGC	0.423000													103	159					0	0	1	0	0
PLAA	9373	broad.mit.edu	37	9	26925951	26925951	+	Silent	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:26925951C>A	uc003zqd.3	-	5	1166	c.741G>T	c.(739-741)gtG>gtT	p.V247V	PLAA_uc003zqe.2_Silent_p.V247V	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	247					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	p.R246*(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CTGCTGTTGTCACAAAGTCTA	0.373000													41	28					5.48756e-27	6.66997e-27	1	1	0
SETD5	55209	broad.mit.edu	37	3	9475587	9475587	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:9475587A>G	uc003brt.3	+	3	565	c.130A>G	c.(130-132)Aat>Gat	p.N44D	SETD5_uc003brs.1_5'UTR|SETD5_uc003bru.3_5'UTR|SETD5_uc003brv.3_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	44										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTCCACTCATAATTATGGGAC	0.468000													32	90					0	0	1	0	0
ZNF469	84627	broad.mit.edu	37	16	88497843	88497843	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr16:88497843G>T	uc002fku.2	+	1	3881	c.3881G>T	c.(3880-3882)cGc>cTc	p.R1294L		NM_001127464	NP_001120936	Q96JG9	ZN469_HUMAN	Homo sapiens zinc finger protein 469 (ZNF469), mRNA.	1294	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						CCCCCTGCCCGCCAGCCTGGA	0.632000													10	74					2.27111e-07	2.42546e-07	1	1	0
FRRS1	391059	broad.mit.edu	37	1	100212920	100212920	+	Missense_Mutation	SNP	C	C	T	rs147425250	byFrequency	TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:100212920C>T	uc001dsh.1	-	3	865	c.263G>A	c.(262-264)gGc>gAc	p.G88D		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	88	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AATAGGAGGGCCATTCAGATC	0.408000													41	90					0	0	1	0	0
ERLEC1	27248	broad.mit.edu	37	2	54028861	54028861	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:54028861C>A	uc002rxl.3	+	7	1041	c.761C>A	c.(760-762)tCt>tAt	p.S254Y	GPR75-ASB3_uc002rxi.4_Intron|ERLEC1_uc002rxm.3_Missense_Mutation_p.S254Y|ERLEC1_uc002rxn.3_Missense_Mutation_p.S254Y	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA.	254					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TTCAGAGCATCTCCTGTGAAT	0.418000													53	54					7.47603e-22	8.98757e-22	1	1	0
SPON1	10418	broad.mit.edu	37	11	14063070	14063070	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr11:14063070C>T	uc001mle.3	+	2	616	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	116	Reelin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TTCCGTAGATCATAGACGAAG	0.418000													20	42					0	0	1	0	0
RCOR3	55758	broad.mit.edu	37	1	211462545	211462545	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:211462545C>A	uc010psw.2	+	7	941	c.746C>A	c.(745-747)aCt>aAt	p.T249N	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Missense_Mutation_p.T249N|RCOR3_uc001hif.3_Missense_Mutation_p.T249N|RCOR3_uc001hig.3_Missense_Mutation_p.T191N	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CCTGTCCAAACTAGCAAGATT	0.378000													20	171					7.88262e-20	9.37393e-20	1	1	0
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chrX:51076024G>A	uc004dph.3	+	1	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_uc004dpi.4_Silent_p.E69E	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 10 (NUDT10), mRNA.	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(16)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657000													5	178					0	0	1	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580242	77580242	+	Missense_Mutation	SNP	T	T	C	rs74069038		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr14:77580242T>C	uc001xtd.3	+	3	960	c.781T>C	c.(781-783)Tcc>Ccc	p.S261P	KIAA1737_uc001xtc.1_Missense_Mutation_p.S163P	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Homo sapiens KIAA1737 (KIAA1737), mRNA.	261										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GACCTTCGCTTCCCCCGCCAG	0.562000													3	34					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57012127	57012127	+	Missense_Mutation	SNP	G	G	A	rs144949752		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr16:57012127G>A	uc002eki.2	+	10	1163	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	CETP_uc002ekj.2_Missense_Mutation_p.R309H	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	369					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CTCTTTCCACGCCCAGACCAG	0.542000													16	139					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48748937	48748937	+	Silent	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr15:48748937G>T	uc001zwx.2	-	43	5714	c.5319C>A	c.(5317-5319)atC>atA	p.I1773I	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1773	EGF-like 29; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGACCCCTGGGATCTCCCGGC	0.468000													37	52					1.57019e-19	1.85722e-19	1	1	0
PARP14	54625	broad.mit.edu	37	3	122436993	122436993	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:122436993C>G	uc003efq.4	+	12	4135	c.4076C>G	c.(4075-4077)tCa>tGa	p.S1359*	PARP14_uc021xdc.1_Nonsense_Mutation_p.S1223*|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Nonsense_Mutation_p.S1076*|PARP14_uc003efs.1_Nonsense_Mutation_p.S1076*	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1359	Macro 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAGAAAGGATCAGCCCAGTCT	0.388000													81	66					0	0	1	0	0
EIF2C3	192669	broad.mit.edu	37	1	36479547	36479547	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:36479547T>A	uc001bzp.3	+	10	1649	c.1304T>A	c.(1303-1305)gTa>gAa	p.V435E	EIF2C3_uc001bzq.3_Missense_Mutation_p.V201E	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	435					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCCATGGAGTATGGGACATG	0.398000													27	252					0	0	1	0	0
CSAD	51380	broad.mit.edu	37	12	53554015	53554015	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:53554015T>C	uc001sby.3	-	12	1181	c.1055A>G	c.(1054-1056)aAg>aGg	p.K352R	CSAD_uc021qyc.1_Missense_Mutation_p.K119R|CSAD_uc001sbw.3_Missense_Mutation_p.K205R|CSAD_uc009zmt.3_Missense_Mutation_p.K134R|CSAD_uc010snx.2_Missense_Mutation_p.K379R|CSAD_uc001sbz.3_Missense_Mutation_p.K352R|CSAD_uc009zmu.3_Missense_Mutation_p.K205R|CSAD_uc021qyd.1_Non-coding_Transcript	NM_001244705	NP_001231634	Q9Y600	CSAD_HUMAN	Homo sapiens cysteine sulfinic acid decarboxylase (CSAD), transcript variant 2, mRNA.	352					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CTGCACCACCTTGTCTCCCGT	0.612000													48	49					0	0	1	0	0
FAM54B	56181	broad.mit.edu	37	1	26150129	26150129	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:26150129C>T	uc010oet.2	+	2	252	c.118C>T	c.(118-120)Ctc>Ttc	p.L40F	FAM54B_uc001bkq.4_Intron|FAM54B_uc001bkr.4_Intron|FAM54B_uc009vrz.3_Intron|LOC646471_uc010oeu.1_5'Flank|FAM54B_uc001bks.4_Intron|FAM54B_uc001bkt.4_Intron|FAM54B_uc001bku.4_Intron|FAM54B_uc001bkv.4_5'Flank			Q9H019	FA54B_HUMAN	Homo sapiens family with sequence similarity 54, member B (FAM54B), transcript variant 2, mRNA.	0										endometrium(2)|kidney(2)|large_intestine(2)|pancreas(1)|prostate(1)	8		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)		CGTCTCTTTGCTCCAGACCAT	0.517000													6	95					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96030146	96030146	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:96030146A>C	uc004ati.1	+	15	3815	c.3815A>C	c.(3814-3816)gAc>gCc	p.D1272A	WNK2_uc011lud.1_Missense_Mutation_p.D1272A|WNK2_uc004atj.3_Missense_Mutation_p.D1272A|WNK2_uc004atk.3_Missense_Mutation_p.D909A	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1272					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CGTGGCTCCGACCCAGGGACC	0.647000													6	90					0	0	1	0	0
SPC25	57405	broad.mit.edu	37	2	169746011	169746011	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:169746011C>G	uc002uel.3	-	1	150	c.19G>C	c.(19-21)Gca>Cca	p.A7P		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.	7	Interaction with the N-terminus of SPBC24.|Interaction with the NDC80-NUF2 subcomplex.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TCGAAAAGTGCCAGTTCGTCC	0.368000													17	23					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5781127	5781127	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr7:5781127G>C	uc003sox.2	-	3	780	c.521C>G	c.(520-522)tCa>tGa	p.S174*	RNF216_uc010ksz.2_5'UTR|RNF216_uc010kta.2_Intron|RNF216_uc003soy.2_Nonsense_Mutation_p.S117*|RNF216_uc011jwj.2_Intron	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	117					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)		TTTCTGCTCTGATCTGGGGTT	0.463000													64	64					0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9683157	9683157	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:9683157T>A	uc010vvb.2	-	2	479	c.466A>T	c.(466-468)Atc>Ttc	p.I156F	DHRS7C_uc010cof.3_Missense_Mutation_p.I155F	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	156						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						GTCAATGTGATGGGGCCAAAG	0.478000													7	78					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39925817	39925817	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:39925817C>G	uc002hxq.2	-	2	598	c.321G>C	c.(319-321)gaG>gaC	p.E107D	JUP_uc010wfs.2_Missense_Mutation_p.E107D|JUP_uc002hxr.2_Missense_Mutation_p.E107D|JUP_uc002hxs.2_Missense_Mutation_p.E107D	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	107					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGGCCTGCCCCTCCACCTGGG	0.647000													22	65					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	660177	660177	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:660177C>T	uc001qii.1	+	10	1087	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	B4GALNT3_uc001qij.1_Missense_Mutation_p.R265C|B4GALNT3_uc001qik.1_5'Flank	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	363						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TCCTCTGCAGCGCTACCAGGG	0.607000													33	103					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	149997827	149997827	+	Silent	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:149997827C>G	uc003qmu.1	-	5	3188	c.2640G>C	c.(2638-2640)ggG>ggC	p.G880G	LATS1_uc010kif.1_Silent_p.G775G|LATS1_uc003qmv.2_Silent_p.G880G	NM_004690	NP_004681	O95835	LATS1_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA.	880	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTGAGGGATCCCCCCATTCAT	0.473000													16	42					0	0	1	0	0
EAF2	55840	broad.mit.edu	37	3	121554190	121554190	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:121554190G>A	uc003een.3	+	0	157	c.58G>A	c.(58-60)Ggg>Agg	p.G20R	IQCB1_uc010hrf.1_5'Flank|IQCB1_uc010hre.1_5'Flank|IQCB1_uc003eek.2_5'Flank|EAF2_uc003eem.3_Non-coding_Transcript|EAF2_uc003eeo.3_5'UTR	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	20	Necessary for interaction with ELL.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TCTCAAGTTAGGGGAGAGTTT	0.592000													7	71					0	0	1	0	0
RNF138	51444	broad.mit.edu	37	18	29709106	29709106	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr18:29709106C>A	uc021uip.1	+	6	865	c.805C>A	c.(805-807)Caa>Aaa	p.Q269K	RNF138_uc002kxg.3_Missense_Mutation_p.Q232K|RNF138_uc002kxh.3_Missense_Mutation_p.Q138K	NM_001191324	NP_001178253	Q8WVD3	RN138_HUMAN	Homo sapiens ring finger protein 138 (RNF138), transcript variant 3, mRNA.	232					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TGAAGAAACCCAATACCAAAC	0.358000													3	27					0.115264	0.116321	1	1	0
LSR	51599	broad.mit.edu	37	19	35758028	35758028	+	Silent	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:35758028C>A	uc002nyl.3	+	8	1528	c.1305C>A	c.(1303-1305)acC>acA	p.T435T	LSR_uc010xsr.2_Silent_p.T327T|LSR_uc002nym.3_Silent_p.T416T|LSR_uc002nyn.3_Silent_p.T367T|LSR_uc002nyo.3_Silent_p.T415T|LSR_uc002nyp.3_Silent_p.T377T|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	435					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTGAAGTCACCTCCCTCCACG	0.677000													66	47					1.02218e-41	1.29241e-41	1	1	0
UBE3D	90025	broad.mit.edu	37	6	83767555	83767555	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:83767555T>G	uc003pjp.2	-	1	372	c.264A>C	c.(262-264)aaA>aaC	p.K88N	UBE3D_uc011dyx.1_Non-coding_Transcript|UBE3D_uc003pjr.3_Missense_Mutation_p.K56N	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2C binding protein (UBE2CBP), mRNA.	88						cytoplasm	ligase activity										TTGTGCCTAATTTTGCTTGCG	0.443000											OREG0017549	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	32					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39853737	39853737	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:39853737G>C	uc021olw.1	+	21	10543	c.10543G>C	c.(10543-10545)Ggt>Cgt	p.G3515R	MACF1_uc021ols.1_Missense_Mutation_p.G3013R|MACF1_uc001cdc.2_Missense_Mutation_p.G2992R|MACF1_uc021olt.1_Missense_Mutation_p.G3013R|MACF1_uc001cda.1_Missense_Mutation_p.G2900R	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	5080					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	p.Q3514Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTTACTCAGGGTCTGGTAGA	0.502000													33	80					0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50658768	50658768	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chrX:50658768A>T	uc011mnw.2	+	1	389	c.340A>T	c.(340-342)Ata>Tta	p.I114L		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	114					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TACCTGGCATATACAGATCCT	0.438000													83	5					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769094	31769094	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:31769094G>T	uc002nsy.4	-	1	1670	c.1605C>A	c.(1603-1605)aaC>aaA	p.N535K		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	535					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTGGGCCTTGTTGATTGCGG	0.522000													23	83					2.39556e-15	2.7307e-15	1	1	0
C7orf45	136263	broad.mit.edu	37	7	129856036	129856036	+	Missense_Mutation	SNP	A	A	T	rs144099660		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr7:129856036A>T	uc003vpp.3	+	2	508	c.461A>T	c.(460-462)gAg>gTg	p.E154V		NM_145268	NP_660311	Q8WWF3	CG045_HUMAN	Homo sapiens chromosome 7 open reading frame 45 (C7orf45), mRNA.	154						integral to membrane				endometrium(2)|kidney(1)|lung(6)|ovary(1)	10	Melanoma(18;0.0435)					GGCAGTGAAGAGTCTAACTCA	0.478000													41	122					0	0	1	0	0
OPTN	10133	broad.mit.edu	37	10	13160994	13160994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr10:13160994C>T	uc001ilu.1	+	7	1171	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	OPTN_uc001ilv.1_Nonsense_Mutation_p.Q245*|OPTN_uc001ilw.1_Nonsense_Mutation_p.Q245*|OPTN_uc001ilx.1_Nonsense_Mutation_p.Q245*|OPTN_uc001ily.1_Nonsense_Mutation_p.Q239*|OPTN_uc010qbr.1_Nonsense_Mutation_p.Q188*	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	245					Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GGAAGGGAATCAGAAGGTGGA	0.428000													74	53					0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	13980322	13980322	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:13980322G>C	uc002gof.4	+	2	652	c.448G>C	c.(448-450)Gtg>Ctg	p.V150L	COX10_uc010vvs.2_Intron|COX10_uc010vvt.2_5'UTR	NM_001303	NP_001294	Q12887	COX10_HUMAN	Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.	150					heme O biosynthetic process|heme a biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GAAGCTGCAAGTGTATGATTT	0.368000													53	76					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614323	3614323	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr16:3614323G>C	uc010btn.3	-	4	1026	c.615C>G	c.(613-615)agC>agG	p.S205R		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	205	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCACCGCCAGGCTGGGCTCCC	0.662000													26	51					0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33350841	33350841	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:33350841A>G	uc002ntv.4	-	7	896	c.779T>C	c.(778-780)aTc>aCc	p.I260T	SLC7A9_uc002ntt.4_Non-coding_Transcript|SLC7A9_uc002ntu.4_Missense_Mutation_p.I260T|SLC7A9_uc021usa.1_Missense_Mutation_p.I260T|SLC7A9_uc002ntw.4_Missense_Mutation_p.I51T|JA660679_uc021usb.1_5'Flank	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	260					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CACCAGGGGGATCCCGATGAT	0.607000													93	80					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr13:115047559C>T	uc001vup.3	+	1	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L91L(16)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													3	39					0	0	1	0	0
CEBPA	1050	broad.mit.edu	37	19	33793108	33793108	+	Silent	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:33793108G>T	uc002nun.3	-	0	323	c.213C>A	c.(211-213)gcC>gcA	p.A71A	LOC80054_uc002nuo.3_5'Flank	NM_004364	NP_004355	P49715	CEBPA_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), alpha (CEBPA), mRNA.	71					cytokine-mediated signaling pathway|generation of precursor metabolites and energy|interspecies interaction between organisms|positive regulation of transcription from RNA polymerase III promoter		sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.P70fs*90(4)|p.A71fs*37(4)|p.Y7_G130del(2)|p.A71fs*90(1)|p.P70fs*39(1)|p.A72fs*37(1)|p.A72fs*89(1)|p.A72fs*90(1)|p.S61fs*88(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					CGTTGAAGGCGGCCGGGTCGA	0.751000			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation				18	29					3.73988e-18	4.37646e-18	1	1	0
CCDC149	91050	broad.mit.edu	37	4	24838061	24838061	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr4:24838061G>T	uc003grc.3	-	6	831	c.732C>A	c.(730-732)taC>taA	p.Y244*	CCDC149_uc003grd.3_Intron|CCDC149_uc011bxr.2_Nonsense_Mutation_p.Y244*|CCDC149_uc003gre.3_Nonsense_Mutation_p.Y189*|CCDC149_uc003gra.2_Nonsense_Mutation_p.Y117*	NM_001130726	NP_001124198	B4DZG3	B4DZG3_HUMAN	Homo sapiens coiled-coil domain containing 149 (CCDC149), transcript variant 2, mRNA.	244										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TTGCTACCTTGTATTTGGCAA	0.348000													3	104					1	1	1	1	0
WFIKKN1	117166	broad.mit.edu	37	16	683832	683832	+	Silent	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr16:683832C>A	uc002cht.1	+	1	1664	c.1422C>A	c.(1420-1422)ggC>ggA	p.G474G	AK128777_uc002chs.1_3'UTR|AK301549_uc010uuk.2_5'Flank	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 (WFIKKN1), mRNA.	474	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				AGTTCTTGGGCACCAAGTACC	0.677000													6	178					5.18039e-06	5.45304e-06	1	1	0
NUP160	23279	broad.mit.edu	37	11	47837537	47837537	+	Silent	SNP	A	A	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr11:47837537A>G	uc001ngm.3	-	11	1561	c.1476T>C	c.(1474-1476)agT>agC	p.S492S	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Silent_p.S492S	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	492					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TCTTCAGTTCACTCCAGGAAA	0.363000													132	142					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904125	21904125	+	RNA	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:21904125G>A	uc002gza.2	+	0		c.64G>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ggagtcgcaaggggccgagca	0.697000													4	76					0	0	1	0	0
ABHD6	57406	broad.mit.edu	37	3	58242370	58242370	+	Silent	SNP	A	A	T	rs11544005		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:58242370A>T	uc003djs.4	+	1	467	c.57A>T	c.(55-57)ccA>ccT	p.P19P	ABHD6_uc003djt.4_Silent_p.P19P	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	Homo sapiens abhydrolase domain containing 6 (ABHD6), mRNA.	19						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		TGGCCATCCCAATCCTGGCAT	0.463000													22	65					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28437274	28437274	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr15:28437274G>C	uc001zbj.3	-	52	8390	c.8284C>G	c.(8284-8286)Cgt>Ggt	p.R2762G	HERC2_uc001zbk.1_Missense_Mutation_p.R297G	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2762	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R2762G(6)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTTCCAGAACGGCCACAAAAT	0.493000											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	55					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111147091	111147091	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:111147091G>C	uc021oro.1	-	0	314	c.314C>G	c.(313-315)cCc>cGc	p.P105R	KCNA2_uc009wfv.2_Missense_Mutation_p.P105R|KCNA2_uc009wfw.3_Missense_Mutation_p.P105R	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	105						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P105T(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TATATCTAAGGGCACATTCAC	0.473000													41	21					0	0	1	0	0
CHADL	150356	broad.mit.edu	37	22	41633556	41633556	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr22:41633556T>C	uc003azq.4	-	2	1570	c.1520A>G	c.(1519-1521)aAc>aGc	p.N507S	CHADL_uc010gyj.3_Missense_Mutation_p.N507S	NM_138481	NP_612490	Q6NUI6	CHADL_HUMAN	Homo sapiens chondroadherin-like (CHADL), mRNA.	507						proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(1)|skin(1)	4						CAGGAAACGGTTGCGTTCTAG	0.672000													10	155					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91632281	91632281	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr7:91632281G>A	uc003ulg.3	+	7	3275	c.3050G>A	c.(3049-3051)aGc>aAc	p.S1017N	AKAP9_uc003ule.2_Missense_Mutation_p.S1029N|AKAP9_uc003ulf.3_Missense_Mutation_p.S1017N|AKAP9_uc003uli.3_Missense_Mutation_p.S642N	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1029					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTCAAGTAAGCTCTTTATTA	0.358000			T	BRAF	papillary thyroid								64	48					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5286082	5286082	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:5286082C>A	uc002mbv.3	-	1	304	c.70G>T	c.(70-72)Gtt>Ttt	p.V24F	PTPRS_uc002mbu.1_Missense_Mutation_p.V24F|PTPRS_uc010xin.2_Missense_Mutation_p.V24F|PTPRS_uc002mbw.3_Missense_Mutation_p.V24F|PTPRS_uc002mbx.3_Missense_Mutation_p.V24F|PTPRS_uc002mby.3_Missense_Mutation_p.V24F|PTPRS_uc002mbz.1_Missense_Mutation_p.V24F	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	24					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CAGCCTCCAACGAGCAGGACC	0.617000													64	58					2.51111e-31	3.12115e-31	1	1	0
C1orf170	84808	broad.mit.edu	37	1	915233	915233	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:915233G>T	uc001ach.2	-	2	871	c.835C>A	c.(835-837)Cca>Aca	p.P279T						Homo sapiens chromosome 1 open reading frame 170 (C1orf170), non-coding RNA.																		TCCAATTGTGGCTTGGAGATG	0.577000													12	94					0.00010058	0.000103885	1	1	0
SHANK3	85358	broad.mit.edu	37	22	51160316	51160316	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr22:51160316C>T	uc003bne.1	+	21	4103	c.4103C>T	c.(4102-4104)gCa>gTa	p.A1368V	SHANK3_uc003bnf.1_Missense_Mutation_p.A815V	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1368										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCTGAGTCTGCAGCCGACTCT	0.701000													44	31					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917491	97917491	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr10:97917491G>T	uc001klp.3	+	5	2269	c.1412G>T	c.(1411-1413)gGc>gTc	p.G471V	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Missense_Mutation_p.G471V|ZNF518A_uc001klr.3_Missense_Mutation_p.G471V	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TGTTCACCAGGCTCACAGTCA	0.398000													96	79					4.73232e-52	6.05297e-52	1	1	0
CUL9	23113	broad.mit.edu	37	6	43155541	43155541	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:43155541A>G	uc003ouk.3	+	6	1747	c.1672A>G	c.(1672-1674)Agc>Ggc	p.S558G	CUL9_uc003ouj.1_Missense_Mutation_p.S448G|CUL9_uc003oul.3_Missense_Mutation_p.S558G|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_Missense_Mutation_p.S16G	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	558					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ATTTGAGGGCAGCACTCTCAA	0.517000													14	52					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32305751	32305751	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chrX:32305751G>T	uc004dda.1	-	42	6429	c.6185C>A	c.(6184-6186)gCa>gAa	p.A2062E	DMD_uc004dcw.2_Missense_Mutation_p.A718E|DMD_uc004dcx.2_Missense_Mutation_p.A721E|DMD_uc004dcz.2_Missense_Mutation_p.A1939E|DMD_uc004dcy.1_Missense_Mutation_p.A2058E|DMD_uc004ddb.1_Missense_Mutation_p.A2054E|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_Non-coding_Transcript	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2062					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)				ACTTTGCAATGCTGCTGTCTT	0.368000													23	1					4.7796e-09	5.17987e-09	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52428521	52428521	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:52428521T>C	uc011bef.2	+	66	10928	c.10667T>C	c.(10666-10668)aTc>aCc	p.I3556T	DNAH1_uc003ddv.3_Missense_Mutation_p.I414T	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3621					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCATCTCGATCATGACTGAG	0.622000													48	45					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35711276	35711276	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:35711276T>A	uc003zxt.2	-	29	4349	c.3995A>T	c.(3994-3996)aAg>aTg	p.K1332M		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1332	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCTGACTCTTGAGGTTAGG	0.562000													17	32					0	0	1	0	0
ZNF706	51123	broad.mit.edu	37	8	102213962	102213962	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr8:102213962C>G	uc003yka.3	-	2	423	c.8G>C	c.(7-9)cGt>cCt	p.R3P	ZNF706_uc003ykb.3_Missense_Mutation_p.R3P	NM_001042510	NP_057180	Q9Y5V0	ZN706_HUMAN	Homo sapiens zinc finger protein 706 (ZNF706), transcript variant 1, mRNA.	3						intracellular	zinc ion binding	p.R3P(3)		large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGCTGTCCACGAGCCATATC	0.398000													5	15					0	0	1	0	0
REEP5	7905	broad.mit.edu	37	5	112257770	112257770	+	Splice_Site	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr5:112257770C>A	uc003kqe.1	-	1	262	c.118_splice	c.e1+1	p.G40_splice	REEP5_uc011cvw.1_5'Flank|REEP5_uc011cvx.1_Splice_Site|REEP5_uc011cvy.1_Splice_Site_p.G40_splice|REEP5_uc011cvz.1_Splice_Site	NM_005669	NP_005660	Q00765	REEP5_HUMAN	Homo sapiens receptor accessory protein 5 (REEP5), mRNA.	40						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		GGCCACCCACCAAGAGCGATG	0.657000													62	90					1.12115e-39	1.40945e-39	1	1	0
IQGAP2	10788	broad.mit.edu	37	5	75888702	75888702	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr5:75888702G>A	uc003kek.3	+	8	1081	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	287					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGCTTATGAAGAACTGCTGAC	0.323000													55	281					0	0	1	0	0
ZC2HC1C	79696	broad.mit.edu	37	14	75537677	75537677	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr14:75537677G>T	uc001xrh.3	+	1	574	c.401G>T	c.(400-402)gGa>gTa	p.G134V	ZC2HC1C_uc001xri.3_Missense_Mutation_p.G134V	NM_024643	NP_078919	Q53FD0	F164C_HUMAN	Homo sapiens family with sequence similarity 164, member C (FAM164C), transcript variant 1, mRNA.	134																	AAACGAGTTGGAGTGGACCGG	0.522000													29	50					2.4375e-19	2.86764e-19	1	1	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	A	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000													3	55					0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12483849	12483849	+	Silent	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:12483849G>T	uc001rai.1	-	3	666	c.408C>A	c.(406-408)ccC>ccA	p.P136P	MANSC1_uc010shm.1_Silent_p.P70P|MANSC1_uc001raj.1_Silent_p.P102P	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	136						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AATCTTCCTGGGGTAACTCTT	0.423000													3	110					0.00909568	0.00922143	1	1	0
YSK4	80122	broad.mit.edu	37	2	135744072	135744072	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:135744072C>G	uc002tue.1	-	6	2401	c.2370G>C	c.(2368-2370)caG>caC	p.Q790H	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.Q677H|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.Q518H|YSK4_uc002tui.4_Missense_Mutation_p.Q807H	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	790							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCTCAGGTGTCTGAGCCAAGT	0.398000													32	56					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1940301	1940301	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:1940301A>T	uc001qjt.2	+	3	1074	c.268A>T	c.(268-270)Aac>Tac	p.N90Y	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.N90Y|LRTM2_uc010sdx.1_Missense_Mutation_p.N90Y|LRTM2_uc001qjv.2_Intron	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	90						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGCTTTCGCCAACCTCTCCAG	0.617000													27	26					0	0	1	0	0
NAGK	55577	broad.mit.edu	37	2	71304704	71304704	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:71304704A>G	uc002shr.3	+	7	2605	c.629A>G	c.(628-630)aAg>aGg	p.K210R	NAGK_uc002shp.4_Missense_Mutation_p.K307R|NAGK_uc002shq.4_Missense_Mutation_p.K112R			Q9UJ70	NAGK_HUMAN	Homo sapiens N-acetylglucosamine kinase (NAGK), mRNA.	261					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	TTCCAGGGCAAGATTGGACTC	0.602000													30	51					0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8736394	8736394	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr16:8736394T>C	uc002cyz.3	+	8	1258	c.982T>C	c.(982-984)Tgc>Cgc	p.C328R	METTL22_uc021tcq.1_Non-coding_Transcript	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	Homo sapiens methyltransferase like 22 (METTL22), mRNA.	328							methyltransferase activity			large_intestine(5)|lung(4)	9						GAAAAATGCCTGCACAGCCAT	0.532000													50	67					0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70267572	70267572	+	RNA	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr16:70267572G>A	uc010cfp.1	-	3		c.372C>T								Homo sapiens cDNA, FLJ98908.																		ACTGCTGCATGCCTGCAGACA	0.378000													28	33					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36152575	36152575	+	Silent	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr4:36152575G>T	uc003gsq.2	-	15	3182	c.2844C>A	c.(2842-2844)atC>atA	p.I948I		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	948	PH 3.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAACTTCATTGATATTAATGG	0.343000													24	60					1.22384e-17	1.42457e-17	1	1	0
CEBPA	1050	broad.mit.edu	37	19	33793120	33793120	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:33793120G>T	uc002nun.3	-	0	311	c.201C>A	c.(199-201)taC>taA	p.Y67*	LOC80054_uc002nuo.3_5'Flank	NM_004364	NP_004355	P49715	CEBPA_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), alpha (CEBPA), mRNA.	67					cytokine-mediated signaling pathway|generation of precursor metabolites and energy|interspecies interaction between organisms|positive regulation of transcription from RNA polymerase III promoter		sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.Y67fs*92(4)|p.I68fs*41(4)|p.A66fs*42(4)|p.Y67fs*41(3)|p.Y67fs*95(2)|p.Y7_G130del(2)|p.A66fs*43(2)|p.Y67fs*42(2)|p.Y67fs*37(2)|p.Y67fs*93(1)|p.A66fs*95(1)|p.S61fs*88(1)|p.A66_Y67>LH(1)|p.I68fs*39(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					CCGGGTCGATGTAGGCGCTGA	0.751000			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation				16	32					3.73808e-20	4.46945e-20	1	1	0
SYNPO2	171024	broad.mit.edu	37	4	119952707	119952707	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr4:119952707A>T	uc010inb.3	+	3	2973	c.2777A>T	c.(2776-2778)aAt>aTt	p.N926I	SYNPO2_uc010ina.3_Missense_Mutation_p.N926I|SYNPO2_uc003icm.4_Missense_Mutation_p.N926I|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.N854I|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	926						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTGGCCTATAATCCTATCCAC	0.572000													9	54					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56578005	56578005	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:56578005G>T	uc001skb.3	-	5	622	c.516C>A	c.(514-516)aaC>aaA	p.N172K	SMARCC2_uc001skd.3_Missense_Mutation_p.N172K|SMARCC2_uc001ska.3_Missense_Mutation_p.N172K|SMARCC2_uc001skc.3_Missense_Mutation_p.N172K|SMARCC2_uc010sqf.2_Missense_Mutation_p.N61K	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	172					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGAGGCATTGTTCTTATCCT	0.498000													41	70					9.87224e-16	1.13712e-15	1	1	0
KIAA1468	57614	broad.mit.edu	37	18	59919898	59919898	+	Splice_Site	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr18:59919898C>A	uc002lil.3	+	12	1949	c.1734_splice	c.e12-1	p.R578_splice	KIAA1468_uc002lik.1_Splice_Site_p.R578_splice|KIAA1468_uc010xel.2_Splice_Site_p.R578_splice|KIAA1468_uc002lim.3_Splice_Site_p.R222_splice	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	578							binding	p.Q579K(3)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ATTTTTCAGGCAAATGATACT	0.383000													6	49					3.59834e-05	3.76969e-05	1	1	0
PLD1	5337	broad.mit.edu	37	3	171395429	171395429	+	Silent	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:171395429G>A	uc003fhs.3	-	16	2270	c.1923C>T	c.(1921-1923)acC>acT	p.T641T	PLD1_uc003fht.3_Silent_p.T603T|PLD1_uc003fhv.1_5'UTR	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	641	Catalytic.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GCCAGAATCTGGTTTCCCCAT	0.498000													26	68					0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23240479	23240479	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr14:23240479T>A	uc001wgn.2	+	8	1285	c.1285T>A	c.(1285-1287)Tgg>Agg	p.W429R	OXA1L_uc001wgp.2_Missense_Mutation_p.W353R	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.	369					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		TTACACAGGCTGGAAAAATGC	0.473000													41	31					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32063589	32063589	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:32063589C>G	uc003nzl.2	-	2	2243	c.2041G>C	c.(2041-2043)Gaa>Caa	p.E681Q		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	681					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGAGGCTCTTCCTGCCCGCAG	0.701000													11	235					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23713536	23713536	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr16:23713536C>T	uc002dma.4	-	10	1453	c.1284G>A	c.(1282-1284)ctG>ctA	p.L428L	ERN2_uc010bxp.3_Silent_p.L428L|ERN2_uc010bxq.1_Silent_p.L236L	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	380					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TTCCACTCCCCAGGGTGGGAT	0.607000													10	50					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336674	30336674	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr10:30336674C>T	uc009xle.2	-	1	205	c.68G>A	c.(67-69)cGc>cAc	p.R23H	KIAA1462_uc001iux.3_Missense_Mutation_p.R23H|KIAA1462_uc001iuy.3_Missense_Mutation_p.R23H|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	23										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTTATCCTCGCGTGATGCTGG	0.607000													4	103					0	0	1	0	0
RPL7A	6130	broad.mit.edu	37	9	136216489	136216489	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:136216489C>A	uc004cde.1	+	2	238	c.208C>A	c.(208-210)Ctc>Atc	p.L70I	MED22_uc004cdc.3_5'Flank|MED22_uc004cdd.3_5'Flank|SNORD36B_uc010nai.1_5'Flank|SNORD36A_uc010naj.3_5'Flank|RPL7A_uc022boy.1_5'Flank|SNORD36C_uc010nak.3_5'Flank	NM_000972	NP_000963	P62424	RL7A_HUMAN	Homo sapiens ribosomal protein L7a (RPL7A), mRNA.	70					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		GAGAGCCATCCTCTATAAGCG	0.552000													29	48					1.75199e-13	1.95653e-13	1	1	0
AKT3	10000	broad.mit.edu	37	1	243800913	243800913	+	Splice_Site	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:243800913C>T	uc001iab.2	-	5	673	c.561_splice	c.e5+1	p.K187_splice	AKT3_uc001hzz.1_Splice_Site_p.K187_splice|AKT3_uc021plu.1_Splice_Site_p.K187_splice	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma) (AKT3), transcript variant 1, mRNA.	187	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AATCAGTTACCTTTGCAATAA	0.328000													6	27					0	0	1	0	0
METTL1	4234	broad.mit.edu	37	12	58165807	58165807	+	Silent	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:58165807G>A	uc010ssd.2	-	0	108	c.60C>T	c.(58-60)taC>taT	p.Y20Y	METTL1_uc009zqc.3_Silent_p.Y20Y|METTL21B_uc001sqf.3_5'Flank|METTL21B_uc001sqg.3_5'Flank|METTL21B_uc009zqd.3_5'Flank	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	Homo sapiens methyltransferase like 1 (METTL1), transcript variant 1, mRNA.	20						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			GTTGCCGGTAGTAGCGCTTCT	0.642000													43	67					0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74081440	74081440	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:74081440G>A	uc002jqs.3	-	15	1915	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F	EXOC7_uc002jqp.2_5'Flank|EXOC7_uc010dgv.2_Missense_Mutation_p.S481F|EXOC7_uc010wsv.2_Missense_Mutation_p.S528F|EXOC7_uc010wsw.2_Missense_Mutation_p.S579F|EXOC7_uc002jqq.3_Missense_Mutation_p.S556F|EXOC7_uc010wsx.2_Missense_Mutation_p.S548F|EXOC7_uc002jqr.3_Missense_Mutation_p.S525F	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	607					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CTCCCGGTAGGAGCGCTCAGC	0.637000													3	28					0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14943406	14943406	+	Silent	SNP	A	A	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:14943406A>G	uc001rci.3	-	9	1454	c.1293T>C	c.(1291-1293)ccT>ccC	p.P431P		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	431	Pro-rich.				RNA splicing|mRNA processing|rRNA processing	cytoplasm	WW domain binding|single-stranded DNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GTGGACCAGGAGGAAGGCCTG	0.473000													20	91					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12711237	12711237	+	Silent	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:12711237G>T	uc001auf.3	+	1	264	c.264G>T	c.(262-264)gtG>gtT	p.V88V		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	88						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTGAACTTGTGGTGACCGACC	0.498000													50	45					5.82218e-30	7.15575e-30	1	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21769308	21769308	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr14:21769308C>T	uc001wag.3	+	2	402	c.402C>T	c.(400-402)gcC>gcT	p.A134A		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	134					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TCGGCCCTGCCAGCCCCCGCC	0.682000													47	148					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33807110	33807110	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:33807110G>A	uc002hjn.3	-	2	920	c.206C>T	c.(205-207)aCt>aTt	p.T69I	SLFN12L_uc021tuy.1_Missense_Mutation_p.T40I	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	72						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CTCTCCAAGAGTGACTCTTCC	0.403000													6	74					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10700024	10700024	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:10700024C>A	uc001aro.3	-	20	4575	c.4255G>T	c.(4255-4257)Gcg>Tcg	p.A1419S		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGGGAGGACGCCGTCTTCCGC	0.617000													20	58					1.96292e-10	2.14847e-10	1	1	0
RBP2	5948	broad.mit.edu	37	3	139195286	139195286	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:139195286T>A	uc003eth.3	-	0	67	c.16A>T	c.(16-18)Aat>Tat	p.N6Y		NM_004164	NP_004155	P50120	RET2_HUMAN	Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA.	6					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CAGGTTCCATTCTGGTCCCTT	0.537000													9	53					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	131007961	131007961	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr5:131007961C>T	uc003kvs.1	-	13	2318	c.2176G>A	c.(2176-2178)Gga>Aga	p.G726R	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.G698R|RAPGEF6_uc010jdm.1_Missense_Mutation_p.G681R	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ACAACCATTCCTGTGGATCTC	0.448000													49	38					0	0	1	0	0
LOC643387	643387	broad.mit.edu	37	2	239140742	239140742	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:239140742T>C	uc010znu.2	+	0	416	c.221T>C	c.(220-222)gTt>gCt	p.V74A	LOC151174_uc002vxy.2_5'Flank|LOC151174_uc002vxx.3_5'Flank					Homo sapiens TAR DNA binding protein pseudogene (LOC643387), non-coding RNA.																		CCGGTGTATGTTGTCAACTAT	0.468000													67	71					0	0	1	0	0
NHEJ1	79840	broad.mit.edu	37	2	220022946	220022946	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:220022946C>T	uc002vjp.4	-	1	285	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	NHEJ1_uc002vjq.4_Non-coding_Transcript	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	Homo sapiens nonhomologous end-joining factor 1 (NHEJ1), mRNA.	47					B cell differentiation|DNA recombination|T cell differentiation|central nervous system development|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		TCCACCTGTTCATGCCACACC	0.527000								Non-homologous end-joining					43	55					0	0	1	0	0
GNAI3	2773	broad.mit.edu	37	1	110125084	110125084	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:110125084T>G	uc001dxz.2	+	4	644	c.487T>G	c.(487-489)Tcc>Gcc	p.S163A		NM_006496	NP_006487	P08754	GNAI3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 (GNAI3), mRNA.	163					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	p.S163F(1)		NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GGATAGAATATCCCAGTCTAA	0.368000													33	138					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96684163	96684163	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr13:96684163A>G	uc001vmt.3	-	1	391	c.221T>C	c.(220-222)tTa>tCa	p.L74S	UGGT2_uc010afo.3_Non-coding_Transcript|UGGT2_uc001vmv.3_Missense_Mutation_p.L74S	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	74					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						ATAAATTGCTAATTCTTGCAC	0.259000													26	50					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113678545	113678545	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr8:113678545T>G	uc003ynu.3	-	16	2936	c.2777A>C	c.(2776-2778)gAa>gCa	p.E926A	CSMD3_uc003yns.3_Missense_Mutation_p.E198A|CSMD3_uc003ynt.3_Missense_Mutation_p.E886A|CSMD3_uc011lhx.2_Missense_Mutation_p.E822A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	926	CUB 5.					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						AGGTTCAGCTTCAATCACCCA	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			74	43					0	0	1	0	0
GCA	25801	broad.mit.edu	37	2	163208899	163208899	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:163208899A>C	uc002ucg.3	+	2	420	c.244A>C	c.(244-246)Att>Ctt	p.I82L		NM_012198	NP_036330	P28676	GRAN_HUMAN	Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.	82	EF-hand 1.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						ACAGTCTGGAATTAATGGAAC	0.308000													48	43					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49944077	49944077	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:49944077A>C	uc001ruh.1	+	9	2143	c.1883A>C	c.(1882-1884)gAg>gCg	p.E628A	KCNH3_uc010smj.1_Missense_Mutation_p.E568A	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	628					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GGCTCCATGGAGGTGCTCAAG	0.647000													37	38					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10610178	10610178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:10610178G>A	uc002moq.1	-	1	688	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	KEAP1_uc002mor.1_Nonsense_Mutation_p.Q178*	NM_012289	NP_987096	Q14145	KEAP1_HUMAN	Homo sapiens kelch-like ECH-associated protein 1 (KEAP1), transcript variant 2, mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GGGTCCAGCTGCTGCACCAGG	0.572000													80	11					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40357745	40357745	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:40357745G>T	uc002omp.4	-	33	15576	c.15568C>A	c.(15568-15570)Ctg>Atg	p.L5190M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5190	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCTGAGGTCAGCAGGGAGGAG	0.577000													18	139					1.28384e-07	1.37778e-07	1	1	0
SETBP1	26040	broad.mit.edu	37	18	42533244	42533244	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr18:42533244C>T	uc010dni.3	+	3	4235	c.3939C>T	c.(3937-3939)gaC>gaT	p.D1313D		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1313						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGGAAAAGGACATCCAAGCCT	0.443000									Schinzel-Giedion syndrome				33	94					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113163	18113163	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:18113163G>C	uc021veh.1	+	0	888	c.888G>C	c.(886-888)agG>agC	p.R296S	KCNS3_uc002rcv.3_Missense_Mutation_p.R296S|KCNS3_uc002rcw.3_Missense_Mutation_p.R296S	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	296					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCTTATGAGGATTTTCCGAA	0.502000													72	107					0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23828918	23828918	+	Silent	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr14:23828918G>A	uc001wjo.3	-	3	1377	c.769C>T	c.(769-771)Ctg>Ttg	p.L257L	EFS_uc001wjp.3_Silent_p.L164L|EFS_uc010tnm.2_Intron	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	257	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCCCCAGCAGAGGCACATCG	0.642000													14	31					0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1995884	1995884	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr16:1995884C>T	uc002cnh.3	-	7	1046	c.999G>A	c.(997-999)ctG>ctA	p.L333L	TCRBV20S1_uc021tak.1_Intron|MSRB1_uc021tam.1_5'Flank	NM_005061	NP_005052	Q92901	RL3L_HUMAN	Homo sapiens ribosomal protein L3-like (RPL3L), mRNA.	333					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TACAACCCTTCAGCATGACGA	0.602000													4	51					0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45048565	45048565	+	Splice_Site	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr15:45048565G>C	uc001zuf.2	+	4	1379	c.484_splice	c.e4-1	p.E162_splice	TRIM69_uc001zug.1_Splice_Site_p.E162_splice|TRIM69_uc001zuh.1_Splice_Site_p.E3_splice|TRIM69_uc001zui.1_Splice_Site|TRIM69_uc010bdy.1_Splice_Site	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	162					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GATATTCCCAGGAGGAGCTTG	0.488000													40	57					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857474	90857474	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr4:90857474A>C	uc003hst.3	+	5	2714	c.2643A>C	c.(2641-2643)aaA>aaC	p.K881N	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.K623N	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	881					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTTCAGTTAAAAAAGGCAGTG	0.353000													3	103					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39596920	39596920	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:39596920A>C	uc002hwq.1	-	0	677	c.254T>G	c.(253-255)aTt>aGt	p.I85S		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	85	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GTTGCCAGGAATGTGGCAGGT	0.607000													70	95					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65105385	65105385	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:65105385C>T	uc010wqk.2	-	28	4526	c.4339G>A	c.(4339-4341)Gaa>Aaa	p.E1447K	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.E1446K|HELZ_uc010der.3_5'UTR	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATTACAGCTTCTGCAGGAGGA	0.547000													39	60					0	0	1	0	0
TCRBV2S1	0	broad.mit.edu	37	7	142334913	142334913	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr7:142334913A>G	uc003vzp.2	+	1	390	c.335A>G	c.(334-336)gAc>gGc	p.D112G	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc022anq.1_Splice_Site					SubName: Full=V_segment translation product; Flags: Fragment;																		AGTGCTAGAGACACAGCGCCA	0.597000													43	25					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133430112	133430112	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:133430112G>T	uc001ulf.2	-	10	1397	c.1313C>A	c.(1312-1314)gCg>gAg	p.A438E	CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Missense_Mutation_p.A397E|CHFR_uc001ule.2_Missense_Mutation_p.A426E|CHFR_uc010tbs.1_Missense_Mutation_p.A438E|CHFR_uc010tbt.1_Missense_Mutation_p.A346E	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA.	438					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		AGGCTGCGCCGCCTGCCTTCT	0.682000													4	113					0.00024832	0.000255282	1	1	0
ACSM2B	348158	broad.mit.edu	37	16	20570756	20570756	+	Missense_Mutation	SNP	A	A	G	rs74479331		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr16:20570756A>G	uc002dhj.4	-	3	401	c.191T>C	c.(190-192)cTc>cCc	p.L64P	ACSM2B_uc002dhk.4_Missense_Mutation_p.L64P|ACSM2B_uc010bwf.1_Missense_Mutation_p.L64P	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	64					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.L64P(2)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGGGCTTGGGAGTCGCTTGCC	0.512000													5	123					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107573100	107573100	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:107573100C>G	uc004bcl.3	-	28	4560	c.4156G>C	c.(4156-4158)Gaa>Caa	p.E1386Q		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1386					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTGTACTGTTCGTTGTACATC	0.507000													18	92					0	0	1	0	0
KCNK15	60598	broad.mit.edu	37	20	43378853	43378853	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr20:43378853G>A	uc002xmr.3	+	1	431	c.367G>A	c.(367-369)Gtc>Atc	p.V123I		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	Homo sapiens potassium channel, subfamily K, member 15 (KCNK15), mRNA.	123						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GCTGACGCTGGTCACTTTCCA	0.682000													35	77					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86057651	86057651	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr8:86057651G>T	uc003ycw.3	+	18	3212	c.3004G>T	c.(3004-3006)Gaa>Taa	p.E1002*	LRRCC1_uc003ycy.3_Nonsense_Mutation_p.E982*	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	1002					cell division|mitosis	centriole|nucleus		p.R1001C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGAAATGCGTGAACTTTTGGA	0.269000													55	137					4.67498e-28	5.71386e-28	1	1	0
CLK4	57396	broad.mit.edu	37	5	178050363	178050363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr5:178050363C>A	uc003mjf.1	-	1	163	c.55G>T	c.(55-57)Gga>Tga	p.G19*	CLK4_uc003mjg.1_5'UTR|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_Non-coding_Transcript|CLK4_uc011dgg.1_Nonsense_Mutation_p.G19*|CLK4_uc011dgh.1_5'UTR|CLK4_uc011dgi.1_Nonsense_Mutation_p.G19*|CLK4_uc011dgj.1_Nonsense_Mutation_p.G19*|CLK4_uc003mji.2_Nonsense_Mutation_p.G19*|CLK4_uc021yja.1_5'Flank|CLK4_uc010jkw.1_Nonsense_Mutation_p.G19*	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Homo sapiens CDC-like kinase 4 (CLK4), mRNA.	19						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CTTTCATGTCCCCAGCTTTCT	0.438000													43	58					2.27459e-33	2.84324e-33	1	1	0
ZSCAN23	222696	broad.mit.edu	37	6	28402345	28402345	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:28402345G>A	uc003nli.4	-	3	1248	c.1067C>T	c.(1066-1068)aCt>aTt	p.T356I	ZSCAN23_uc003nlh.2_Non-coding_Transcript|ZSCAN23_uc010jrf.1_Non-coding_Transcript|ZSCAN23_uc011dli.2_3'UTR	NM_001012455	NP_001012458	Q3MJ62	ZSC23_HUMAN	Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23), mRNA.	356					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						TCTCTCTCCAGTGTGAATTCT	0.448000													51	39					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75973147	75973147	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr5:75973147C>T	uc003kek.3	+	27	3854	c.3632C>T	c.(3631-3633)tCa>tTa	p.S1211L	IQGAP2_uc011csv.2_Missense_Mutation_p.S707L|IQGAP2_uc003kel.3_Missense_Mutation_p.S707L|IQGAP2_uc010izw.1_Intron	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1211					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATTTATATTTCAATTGAAGAA	0.393000													9	64					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102478240	102478240	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr14:102478240T>C	uc001yks.2	+	32	6811	c.6647T>C	c.(6646-6648)aTc>aCc	p.I2216T		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2216	AAA 2 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATCACCCAGATCAATCATGGC	0.602000													25	48					0	0	1	0	0
RHD	6007	broad.mit.edu	37	1	25628090	25628090	+	Silent	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:25628090G>A	uc009vro.3	+	4	772	c.714G>A	c.(712-714)gtG>gtA	p.V238V	C1orf63_uc021ojj.1_Intron|RHD_uc010oep.2_Silent_p.V238V|RHD_uc001bjz.3_Silent_p.V238V|RHD_uc001bkc.3_Silent_p.V238V|RHD_uc009vrm.3_Silent_p.V70V|RHD_uc001bka.3_Silent_p.V238V|RHD_uc001bkb.3_Silent_p.V238V|RHD_uc009vrn.3_Silent_p.V238V|RHD_uc009vrp.3_Silent_p.V238V			Q02161	RHD_HUMAN	Homo sapiens Rh blood group, D antigen (RHD), transcript variant 1, mRNA.	238			V -> M (in RhDVa(TO) and RhDVa(TT); dbSNP:rs1053360).			integral to plasma membrane		p.A237A(1)		breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGAATGCCGTGTTCAACACCT	0.562000													98	8					0	0	1	0	0
METTL5	29081	broad.mit.edu	37	2	170677784	170677784	+	Splice_Site	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:170677784C>A	uc002ufn.3	-	3	471	c.225_splice	c.e3-1	p.G75_splice	METTL5_uc002ufo.3_Splice_Site_p.G75_splice|METTL5_uc002ufp.3_Splice_Site_p.G75_splice	NM_014168	NP_054887	Q9NRN9	METL5_HUMAN	Homo sapiens methyltransferase like 5 (METTL5), mRNA.	75							methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						AACACACAACCTATAAATACA	0.299000													34	57					1.56738e-10	1.72411e-10	1	1	0
RFC4	5984	broad.mit.edu	37	3	186508173	186508173	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:186508173T>A	uc003fqz.3	-	8	1047	c.824A>T	c.(823-825)gAt>gTt	p.D275V	RFC4_uc011bsc.2_Missense_Mutation_p.D275V	NM_002916	NP_853551	P35249	RFC4_HUMAN	Homo sapiens replication factor C (activator 1) 4, 37kDa (RFC4), transcript variant 1, mRNA.	275					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.D275G(2)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AAATACTCCATCAATTTTCTC	0.428000													29	84					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55716805	55716805	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:55716805G>A	uc002qjq.3	-	3	581	c.508C>T	c.(508-510)Cac>Tac	p.H170Y	PTPRH_uc010esv.3_Intron|PTPRH_uc002qjs.2_Missense_Mutation_p.H177Y	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	170	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ATGTTAGTGTGTGCTGTGCTT	0.567000													5	194					0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113265705	113265705	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr11:113265705A>C	uc001pny.3	+	2	629	c.535A>C	c.(535-537)Atc>Ctc	p.I179L		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	179	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GATGCAGTACATCGAGAGGTC	0.552000													68	84					0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50412996	50412996	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:50412996C>T	uc002prb.3	-	1	313	c.69G>A	c.(67-69)acG>acA	p.T23T	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Silent_p.T23T|NUP62_uc002pqy.3_Silent_p.T23T|NUP62_uc002pra.3_Silent_p.T23T|NUP62_uc002pqz.3_Silent_p.T23T|NUP62_uc002prc.3_Silent_p.T23T|NUP62_uc021uya.1_Silent_p.T23T	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	23	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGGTTGTTGCCGTCTTTGCAG	0.567000													42	27					0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105833603	105833603	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr14:105833603C>T	uc001yqu.3	+	4	981	c.477C>T	c.(475-477)atC>atT	p.I159I	PACS2_uc001yqs.2_Silent_p.I92I|PACS2_uc001yqt.3_Silent_p.I159I|PACS2_uc001yqv.3_Silent_p.I159I	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.	159					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GCAGCAGCATCAAGGAGGCCC	0.647000													51	128					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10820842	10820842	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr11:10820842T>G	uc001mjb.3	-	19	2988	c.1836A>C	c.(1834-1836)aaA>aaC	p.K612N	EIF4G2_uc009ygf.3_Missense_Mutation_p.K818N|EIF4G2_uc001mjc.3_Missense_Mutation_p.K612N|EIF4G2_uc001mjd.3_Missense_Mutation_p.K780N	NM_001418	NP_001409	P78344	IF4G2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.	818	MI.				RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CATGAAGAAATTTCTGCATTA	0.443000													50	50					0	0	1	0	0
FBXO6	26270	broad.mit.edu	37	1	11728776	11728776	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:11728776C>G	uc001aso.3	+	1	227	c.61C>G	c.(61-63)Ctg>Gtg	p.L21V		NM_018438	NP_060908	Q9NRD1	FBX6_HUMAN	Homo sapiens F-box protein 6 (FBXO6), mRNA.	21	F-box.				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|response to unfolded protein	SCF ubiquitin ligase complex|cytoplasm	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CGAGAACATCCTGCTGGAGCT	0.632000													34	69					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr5:140553994G>T	uc003lit.3	+	0	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526A(2)|p.A526S(1)|p.Q525Q(1)|p.A526E(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706000													5	290					6.40141e-05	6.67446e-05	1	1	0
APAF1	317	broad.mit.edu	37	12	99093184	99093184	+	Splice_Site	SNP	A	A	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:99093184A>C	uc001tfz.3	+	17	2882	c.2305_splice	c.e17-2	p.L769_splice	APAF1_uc001tfy.3_Splice_Site_p.L758_splice|APAF1_uc001tga.3_Splice_Site_p.L758_splice|APAF1_uc001tgb.3_Splice_Site_p.L769_splice|APAF1_uc001tgc.3_Intron|APAF1_uc009zto.3_Splice_Site_p.L178_splice	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	769					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTTAATTCAAAGCTTTGGGAT	0.323000													20	33					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3162057	3162057	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr4:3162057C>T	uc021xkv.1	+	28	3947	c.3802C>T	c.(3802-3804)Cgc>Tgc	p.R1268C		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1268					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGGGTTTCTCCGCTCAGCCTT	0.512000													51	88					0	0	1	0	0
COQ3	51805	broad.mit.edu	37	6	99823846	99823846	+	Silent	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:99823846T>A	uc003ppk.3	-	4	726	c.699A>T	c.(697-699)acA>acT	p.T233T		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	Homo sapiens coenzyme Q3 homolog, methyltransferase (S. cerevisiae) (COQ3), mRNA.	233					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		ACTGTAAAAATGTTTCTAGAT	0.368000													22	43					0	0	1	0	0
ITGB3BP	23421	broad.mit.edu	37	1	63974218	63974218	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:63974218T>G	uc001dbb.2	-	2	286	c.146A>C	c.(145-147)gAt>gCt	p.D49A	ITGB3BP_uc001dbc.2_Non-coding_Transcript|ITGB3BP_uc001dba.2_Missense_Mutation_p.D10A|ITGB3BP_uc009wak.1_Missense_Mutation_p.D32A	NM_001206739	NP_001193668	Q13352	CENPR_HUMAN	Homo sapiens integrin beta 3 binding protein (beta3-endonexin) (ITGB3BP), transcript variant 1, mRNA.	10	DD1.				CenH3-containing nucleosome assembly at centromere|apoptosis|cell adhesion|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity	p.D10G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TAACAGACCATCCAACTTCAG	0.259000													38	101					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176721020	176721020	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr5:176721020G>T	uc003mfr.4	+	22	6789	c.6651G>T	c.(6649-6651)gaG>gaT	p.E2217D	NSD1_uc003mft.4_Missense_Mutation_p.E1948D|NSD1_uc011dfx.2_Missense_Mutation_p.E1865D|NSD1_uc021yip.1_Missense_Mutation_p.E41D	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2217	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AACCTGGGGAGATCCGTGAGT	0.562000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			40	61					4.01765e-15	4.5561e-15	1	1	0
ERN1	2081	broad.mit.edu	37	17	62152600	62152600	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:62152600G>A	uc002jdz.2	-	4	403	c.290C>T	c.(289-291)cCt>cTt	p.P97L		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	97					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GATGGTAAAAGGAAGTTTCTT	0.358000													5	50					0	0	1	0	0
DLD	1738	broad.mit.edu	37	7	107545820	107545820	+	Silent	SNP	T	T	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr7:107545820T>C	uc003vet.3	+	6	563	c.453T>C	c.(451-453)aaT>aaC	p.N151N	DLD_uc010ljm.1_Non-coding_Transcript|DLD_uc011kmg.2_Intron|DLD_uc011kmh.2_Silent_p.N128N|DLD_uc011kmi.2_Silent_p.N52N	NM_000108	NP_000099	P09622	DLDH_HUMAN	Homo sapiens dihydrolipoamide dehydrogenase (DLD), mRNA.	151					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	TTCATGTCAATGGATATGGAA	0.313000													3	32					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3779018	3779018	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr16:3779018C>T	uc002cvv.3	-	30	6234	c.6030G>A	c.(6028-6030)ggG>ggA	p.G2010G	CREBBP_uc002cvw.3_Silent_p.G1972G	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	2010					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCATGACGGGCCCGCTCACCT	0.692000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						14	30					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154841897	154841897	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:154841897C>T	uc021pah.1	-	0	858	c.544G>A	c.(544-546)Ggt>Agt	p.G182S	KCNN3_uc001ffp.3_Missense_Mutation_p.G182S|KCNN3_uc009wox.1_Missense_Mutation_p.G182S	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	187						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ATGACCCCACCGCTATACTTG	0.672000													29	57					0	0	1	0	0
IDUA	3425	broad.mit.edu	37	4	996204	996204	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr4:996204A>C	uc003gby.3	+	7	1208	c.1120A>C	c.(1120-1122)Acc>Ccc	p.T374P	IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Missense_Mutation_p.T396P	NM_000203	NP_000194	P35475	IDUA_HUMAN	Homo sapiens iduronidase, alpha-L- (IDUA), mRNA.	374					disaccharide metabolic process	lysosome	L-iduronidase activity|cation binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	GGTCAACAACACCCGCCCGCC	0.711000													9	67					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15554119	15554119	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr21:15554119C>T	uc002yjm.3	-	3	676	c.666G>A	c.(664-666)acG>acA	p.T222T	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Silent_p.T201T|LIPI_uc021whh.1_Silent_p.T201T|LIPI_uc021whi.1_Silent_p.T36T|LIPI_uc021whj.1_Silent_p.T201T|LIPI_uc021whe.1_Silent_p.T201T|LIPI_uc021whf.1_Silent_p.T201T	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	201					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ACTTTGCATCCGTGTAATCTA	0.388000													13	38					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987232	154987232	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:154987232C>G	uc001fgj.4	+	4	483	c.198C>G	c.(196-198)caC>caG	p.H66Q	ZBTB7B_uc009wpa.3_Missense_Mutation_p.H32Q|ZBTB7B_uc001fgk.4_Missense_Mutation_p.H32Q|ZBTB7B_uc010peq.2_Missense_Mutation_p.H66Q|ZBTB7B_uc001fgl.4_Missense_Mutation_p.H32Q	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	32	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGCTGGGCCACCTATGTGACC	0.587000													19	48					0	0	1	0	0
STAG3L4	64940	broad.mit.edu	37	7	66774599	66774599	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr7:66774599T>G	uc003tvt.4	+	3	599	c.341T>G	c.(340-342)cTg>cGg	p.L114R	STAG3L4_uc010laj.3_Non-coding_Transcript			Q8TBR4	STG34_HUMAN	Homo sapiens stromal antigen 3-like 4 (STAG3L4), transcript variant 2, non-coding RNA.	114										endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CAACTGAGTCTGCACGAAGAT	0.483000													29	45					0	0	1	0	0
ANKRD18A	253650	broad.mit.edu	37	9	38577964	38577964	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:38577964T>A	uc004abg.4	-	12	2507	c.2429A>T	c.(2428-2430)gAa>gTa	p.E810V	ANKRD18A_uc004abb.1_5'Flank|ANKRD18A_uc010mmc.1_5'Flank|ANKRD18A_uc010mmd.1_5'Flank|ANKRD18A_uc004abf.1_Missense_Mutation_p.E487V	NM_147195	NP_671728	Q8IVF6	AN18A_HUMAN	Homo sapiens ankyrin repeat domain 18A (ANKRD18A), mRNA.	810										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						CATATCTTTTTCCATATGTGT	0.313000													55	50					0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183753777	183753777	+	Missense_Mutation	SNP	G	G	A	rs36092077	by1000genomes	TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:183753777G>A	uc011bqv.2	+	2	269	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	HTR3D_uc003fmj.3_Intron|HTR3D_uc011bqu.2_Intron|HTR3D_uc010hxp.3_Intron	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	90						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			caccatgcccggccTTGGCAC	0.537000													3	77					0	0	1	0	0
LRR1	122769	broad.mit.edu	37	14	50081041	50081041	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr14:50081041G>T	uc001wwn.3	+	3	1396	c.1072G>T	c.(1072-1074)Gtt>Ttt	p.V358F	NEMF_uc010anj.1_Intron|LRR1_uc010ank.3_Missense_Mutation_p.V299F|LRR1_uc001wwp.3_Non-coding_Transcript|LRR1_uc001wwo.3_Missense_Mutation_p.C117F	NM_152329	NP_689542	Q96L50	LLR1_HUMAN	Homo sapiens leucine rich repeat protein 1 (LRR1), transcript variant 1, mRNA.	358										kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AAAAATTTGTGTTTGTGGAAG	0.368000													8	34					0.000673444	0.000689106	1	1	0
CILP	8483	broad.mit.edu	37	15	65494241	65494241	+	Silent	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr15:65494241C>A	uc002aon.2	-	7	1336	c.1155G>T	c.(1153-1155)gtG>gtT	p.V385V		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	385	Ig-like C2-type.				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						CCTTGGACTTCACAGCCCCAG	0.587000													35	57					6.02501e-08	6.49756e-08	1	1	0
TRIOBP	11078	broad.mit.edu	37	22	38130642	38130642	+	Silent	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr22:38130642G>A	uc003atr.3	+	8	4570	c.4299G>A	c.(4297-4299)ccG>ccA	p.P1433P	TRIOBP_uc003atu.3_Silent_p.P1261P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1433					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGGAGGAACCGCCAGGGTCCC	0.672000													4	115					0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109290784	109290784	+	Silent	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:109290784G>T	uc001tnr.4	+	7	1286	c.615G>T	c.(613-615)gtG>gtT	p.V205V	DAO_uc001tnq.4_Silent_p.V139V|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Intron	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	205					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						ATCAACAGGTGGACGCCCCTT	0.542000													4	78					0.150653	0.151341	1	1	0
TNXB	7148	broad.mit.edu	37	6	32016288	32016288	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:32016288C>T	uc003nzl.2	-	28	10093	c.9891G>A	c.(9889-9891)gcG>gcA	p.A3297A	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3344					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGCCCCTGCGCGTCCCTGT	0.687000													86	52					0	0	1	0	0
KHK	3795	broad.mit.edu	37	2	27315218	27315218	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:27315218G>T	uc002ril.2	+	1	628	c.111G>T	c.(109-111)tgG>tgT	p.W37C	KHK_uc002rim.2_Missense_Mutation_p.W37C|KHK_uc002rio.2_Intron	NM_000221	NP_000212	P50053	KHK_HUMAN	Homo sapiens ketohexokinase (fructokinase) (KHK), transcript variant a, mRNA.	37					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCAGAGATGGCAGCGCGGAG	0.607000													25	28					3.73148e-12	4.14609e-12	1	1	0
OR2C3	81472	broad.mit.edu	37	1	247694872	247694872	+	Silent	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:247694872T>A	uc021pmb.1	-	0	942	c.942A>T	c.(940-942)gcA>gcT	p.A314A	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.A314A	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CCAGCTTGCCTGCAGAGCCAC	0.517000													4	115					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34015918	34015918	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:34015918G>T	uc001bxm.1	-	55	8953	c.8776C>A	c.(8776-8778)Cac>Aac	p.H2926N	CSMD2_uc001bxn.1_Missense_Mutation_p.H2782N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2901	Sushi 21.					integral to membrane|plasma membrane	protein binding	p.Y2925*(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATCTGGGAGTGAGGCGGGGAG	0.572000													84	64					1.43847e-43	1.82926e-43	1	1	0
PRPF4B	8899	broad.mit.edu	37	6	4060772	4060772	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:4060772G>T	uc003mvv.3	+	14	3037	c.2946G>T	c.(2944-2946)caG>caT	p.Q982H	PRPF4B_uc003mvw.3_Non-coding_Transcript|FAM217A_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	982	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TGTTGGACCAGATTCTGATGT	0.448000													6	197					8.12818e-05	8.43491e-05	1	1	0
WTIP	126374	broad.mit.edu	37	19	34991065	34991065	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:34991065G>A	uc002nvm.3	+	7	1184	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E		NM_001080436	NP_001073905			Homo sapiens Wilms tumor 1 interacting protein (WTIP), mRNA.											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGGGAGGAGGGACGCCGTTGC	0.667000													16	16					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661643	4661643	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr11:4661643A>T	uc010qyk.2	+	0	699	c.623A>T	c.(622-624)aAt>aTt	p.N208I		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCAGGGTCAATGTGGTTTAT	0.468000													59	78					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36279064	36279064	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr19:36279064C>T	uc002obs.2	+	20	3258	c.3114C>T	c.(3112-3114)ccC>ccT	p.P1038P	ARHGAP33_uc002obt.2_Silent_p.P1035P|ARHGAP33_uc002obv.1_Silent_p.P787P	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1199					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GTTCAGATCCCGGTCCCCCAG	0.687000													14	25					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105572285	105572285	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:105572285C>A	uc003dwc.3	-	2	714	c.392G>T	c.(391-393)aGa>aTa	p.R131I	CBLB_uc011bhi.2_Missense_Mutation_p.R153I|CBLB_uc003dwd.2_Missense_Mutation_p.R131I|CBLB_uc003dwe.2_Missense_Mutation_p.R131I|CBLB_uc011bhj.1_Non-coding_Transcript	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	131	4H.|Cbl-PTB.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTCATACATTCTCTCCTTGCC	0.343000			Mis S		AML								28	79					2.70662e-09	2.9478e-09	1	1	0
NCAM2	4685	broad.mit.edu	37	21	22906941	22906941	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr21:22906941A>T	uc002yld.2	+	16	2615	c.2366A>T	c.(2365-2367)aAt>aTt	p.N789I	NCAM2_uc011acb.2_Missense_Mutation_p.N647I	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	789					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGCCCAGTAAATGAGCCAAAT	0.393000													28	59					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128941262	128941262	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:128941262G>T	uc002tps.3	+	37	4436	c.4258G>T	c.(4258-4260)Gtg>Ttg	p.V1420L	UGGT1_uc002tpr.3_Missense_Mutation_p.V1396L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1420	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACTATATGTTGTGGATCTGAA	0.438000													46	69					3.4597e-24	4.18206e-24	1	1	0
IQGAP2	10788	broad.mit.edu	37	5	75888710	75888710	+	Silent	SNP	G	G	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr5:75888710G>A	uc003kek.3	+	8	1089	c.867G>A	c.(865-867)ctG>ctA	p.L289L		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	289					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAGAACTGCTGACACAAGCAG	0.333000													56	291					0	0	1	0	0
ZNF655	79027	broad.mit.edu	37	7	99158261	99158261	+	Silent	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr7:99158261C>T	uc010lga.3	+	1	472	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L	FAM200A_uc003urb.3_5'Flank|ZNF655_uc003urc.3_Silent_p.L27L|ZNF655_uc010lfz.3_Silent_p.L27L|ZNF655_uc003ure.3_Non-coding_Transcript|ZNF655_uc003urh.3_Silent_p.L27L|ZNF655_uc010lgb.3_Silent_p.L27L|ZNF655_uc003uri.3_Silent_p.L27L|ZNF655_uc010lgc.3_Silent_p.L27L|ZNF655_uc003urj.3_Silent_p.L27L	NM_001083956	NP_001078837	Q8N720	ZN655_HUMAN	Homo sapiens zinc finger protein 655 (ZNF655), transcript variant 7, mRNA.	27					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GTCTGAGTGTCTGTCCCCAGA	0.567000													16	44					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139258060	139258060	+	Silent	SNP	C	C	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr7:139258060C>A	uc003vvf.4	-	14	3481	c.3210G>T	c.(3208-3210)ccG>ccT	p.P1070P	HIPK2_uc003vvd.4_Silent_p.P1043P	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	1070	Autoinhibitory domain (AID).				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGAAGGAGTACGGAGCCTGGG	0.682000													10	20					3.07112e-06	3.2483e-06	1	1	0
PLAC4	191585	broad.mit.edu	37	21	42551431	42551431	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr21:42551431C>T	uc002yyz.3	-	0	5736	c.125G>A	c.(124-126)aGa>aAa	p.R42K	BACE2_uc002yyw.3_Intron|BACE2_uc002yyx.3_Intron|BACE2_uc002yyy.3_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	Homo sapiens placenta-specific 4 (PLAC4), mRNA.	42													Prostate(19;2.29e-06)				GTGACGGTGTCTGGGGTGAGT	0.607000													43	101					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91811781	91811781	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr15:91811781T>A	uc002bqv.3	+	9	2210	c.1319T>A	c.(1318-1320)aTc>aAc	p.I440N	SV2B_uc002bqt.3_Missense_Mutation_p.I440N|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.I289N	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	440					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGCGCCACAATCAACTTCACG	0.428000													18	203					0	0	1	0	0
GNG12	55970	broad.mit.edu	37	1	68171150	68171150	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:68171150G>C	uc001dea.2	-	3	408	c.203C>G	c.(202-204)aCt>aGt	p.T68S		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATC	0.433000													34	38					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	Frame_Shift_Ins	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:17034125_17034126insAGCT	uc001azn.1	-	2	478_479	c.364_365insAGCT	c.(364-366)tggfs	p.W122fs	ESPNP_uc010ocj.1_Frame_Shift_Ins_p.W52fs					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CAGCAGCAGCCAGCTGAGCACC	0.718													14	43	---	---	---	---					
PCSK9	255738	broad.mit.edu	37	1	55529096	55529096	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr1:55529096delG	uc001cyf.2	+	11	2280	c.1918delG	c.(1918-1920)gggfs	p.G640fs	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	640					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TGCCCTCCCTGGGACCTCCCA	0.662													129	104	---	---	---	---					
RAPH1	65059	broad.mit.edu	37	2	204304774	204304775	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:204304774_204304775delAC	uc002vad.3	-	13	3363_3364	c.3138_3139delGT	c.(3136-3141)gtgtcafs	p.V1046fs		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	1046					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCTTTTGCTGACACACACCCTT	0.545													37	43	---	---	---	---					
SPEG	10290	broad.mit.edu	37	2	220354060	220354064	+	Frame_Shift_Del	DEL	TCTTC	TCTTC	-	rs78622154		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:220354060_220354064delTCTTC	uc010fwg.3	+	35	8320_8324	c.8320_8324delTCTTC	c.(8320-8325)tcttcafs	p.S2774fs		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2774					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCTCTTAGATTCTTCAGCTGTGCCA	0.620													25	37	---	---	---	---					
ALPP	250	broad.mit.edu	37	2	233243529	233243531	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr2:233243529_233243531delTGC	uc002vsq.3	+	0	182_184	c.17_19delTGC	c.(16-21)atgctg>atg	p.L13del		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	13						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGCCCTGCAtgctgctgctgct	0.616													7	157	---	---	---	---					
TLR9	54106	broad.mit.edu	37	3	52265541	52265541	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:52265541delC	uc003ddd.3	-	3	448	c.297delG	c.(295-297)atgfs	p.M99fs	TLR9_uc003ddb.3_5'Flank|TLR9_uc003ddc.1_5'Flank	NM_007284	NP_009215	Q9NR96	TLR9_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA.	0					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CCGCGTACAGCATCTTCAGCC	0.597											OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	20	---	---	---	---					
TLR9	54106	broad.mit.edu	37	3	52265543	52265555	+	Splice_Site	DEL	TCTTCAGCCGCAC	TCTTCAGCCGCAC	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:52265543_52265555delTCTTCAGCCGCAC	uc003ddd.3	-	4	434	c.283_splice	c.e4-1	p.V95_splice	TLR9_uc003ddb.3_5'Flank|TLR9_uc003ddc.1_5'Flank	NM_007284	NP_009215	Q9NR96	TLR9_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA.	0					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	p.R96G(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GCGTACAGCATCTTCAGCCGCACCTGAAGGGCA	0.606											OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	23	---	---	---	---					
ZBTB38	253461	broad.mit.edu	37	3	141162052	141162058	+	Frame_Shift_Del	DEL	TTCGGAT	TTCGGAT	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:141162052_141162058delTTCGGAT	uc010hup.3	+	1	872_878	c.825_831delTTCGGAT	c.(823-831)gattcggatfs	p.D275fs	ZBTB38_uc003etw.3_Frame_Shift_Del_p.D274fs|ZBTB38_uc010hun.3_Frame_Shift_Del_p.D271fs|ZBTB38_uc010huo.3_Frame_Shift_Del_p.D274fs|ZBTB38_uc003ety.3_Frame_Shift_Del_p.D274fs|ZBTB38_uc021xes.1_Frame_Shift_Del_p.D274fs	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	274					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TACCACAGGATTCGGATTCAGCCACAG	0.459													14	51	---	---	---	---					
HPS3	84343	broad.mit.edu	37	3	148857880	148857881	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr3:148857880_148857881insGT	uc003ewu.1	+	1	447_448	c.307_308insGT	c.(307-309)cgtfs	p.R103fs	HPS3_uc011bnq.1_Intron|HPS3_uc021xfk.1_5'UTR	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	103						cytoplasm		p.R103S(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGAAAACTCTCGTGTGTGTATC	0.426									Hermansky-Pudlak syndrome				30	100	---	---	---	---					
RCHY1	25898	broad.mit.edu	37	4	76416940	76416940	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr4:76416940delA	uc003hik.3	-	5	647	c.503delT	c.(502-504)ttafs	p.L168fs	RCHY1_uc010iio.3_Frame_Shift_Del_p.L64fs|RCHY1_uc003hij.3_Frame_Shift_Del_p.L168fs|RCHY1_uc021xpe.1_Non-coding_Transcript|RCHY1_uc010iiq.3_Non-coding_Transcript|RCHY1_uc003hil.3_Frame_Shift_Del_p.L168fs|RCHY1_uc010iip.3_Frame_Shift_Del_p.L168fs|RCHY1_uc010iir.3_Frame_Shift_Del_p.L128fs	NM_015436	NP_056251	Q96PM5	ZN363_HUMAN	Homo sapiens ring finger and CHY zinc finger domain containing 1 (RCHY1), transcript variant 1, mRNA.	168					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTACCTATGTAAAAGATGTCC	0.308													125	97	---	---	---	---					
DNAH8	1769	broad.mit.edu	37	6	38818063	38818080	+	In_Frame_Del	DEL	ATAAAAATAATGCAGCGA	ATAAAAATAATGCAGCGA	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:38818063_38818080delATAAAAATAATGCAGCGA	uc021yzh.1	+	37	5345_5362	c.5236_5253delATAAAAATAATGCAGCGA	c.(5236-5253)ataaaaataatgcagcgadel	p.IKIMQR1746del	DNAH8_uc003ooe.2_In_Frame_Del_p.IKIMQR1529del	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.I1529I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAGTCTTGGATAAAAATAATGCAGCGAGCTCATGAGA	0.362													25	40	---	---	---	---					
HECA	51696	broad.mit.edu	37	6	139487930	139487930	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr6:139487930delG	uc003qin.3	+	1	1066	c.781delG	c.(781-783)ggtfs	p.G261fs		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	261					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CGCAGCCTACGGTGCCCGTTC	0.682													21	48	---	---	---	---					
VSTM2A	222008	broad.mit.edu	37	7	54612346	54612346	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr7:54612346delG	uc022adk.1	+	1	516	c.111delG	c.(109-111)acgfs	p.T37fs	VSTM2A_uc010kzf.3_Frame_Shift_Del_p.T37fs	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	37	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GGAACGTGACGGCGACCGAGG	0.577													50	118	---	---	---	---					
RUSC2	9853	broad.mit.edu	37	9	35547875	35547875	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:35547875delG	uc003zww.3	+	1	1612	c.1357delG	c.(1357-1359)gtcfs	p.V453fs	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Frame_Shift_Del_p.V453fs	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	453						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGCCAGAAGTCCAGCCAGA	0.572													53	33	---	---	---	---					
TLN1	7094	broad.mit.edu	37	9	35699091	35699097	+	Frame_Shift_Del	DEL	CAGCTCC	CAGCTCC	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:35699091_35699097delCAGCTCC	uc003zxt.2	-	51	7285_7291	c.6931_6937delGGAGCTG	c.(6931-6939)ggagctgcafs	p.G2311fs		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	2311	I/LWEQ.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCGGCTGCAGCTCCCAGGAGCTCA	0.585													9	44	---	---	---	---					
TJP2	9414	broad.mit.edu	37	9	71869284	71869285	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr9:71869284_71869285insT	uc004ahe.3	+	22	3885_3886	c.3567_3568insT	c.(3565-3570)gaattafs	p.E1189fs	TJP2_uc011lrs.2_Frame_Shift_Ins_p.E1019fs|TJP2_uc004ahf.3_Frame_Shift_Ins_p.E1042fs|TJP2_uc011lru.2_Frame_Shift_Ins_p.E1156fs|TJP2_uc011lrv.2_Frame_Shift_Ins_p.E1220fs|TJP2_uc010mom.1_3'UTR	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	1189	Interaction with SCRIB.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGGACACAGAATTATAGATGTC	0.579													21	56	---	---	---	---					
FAM186A	121006	broad.mit.edu	37	12	50748961	50748961	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:50748961delG	uc001rwl.2	-	3	1792	c.1654delC	c.(1654-1656)cgtfs	p.R552fs	FAM186A_uc010smt.1_Frame_Shift_Del_p.R330fs	NM_001145475	NP_001138947	A6NE01	F186A_HUMAN	Homo sapiens family with sequence similarity 186, member A (FAM186A), mRNA.	552																	GGAGATTCACGTTTGACCTTC	0.413													53	89	---	---	---	---					
MLEC	9761	broad.mit.edu	37	12	121132908	121132908	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr12:121132908delA	uc001tyy.1	+	3	753	c.602delA	c.(601-603)gacfs	p.D201fs		NM_014730	NP_055545	Q14165	MLEC_HUMAN	Homo sapiens malectin (MLEC), mRNA.	201					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.D201G(2)|p.Y200Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						GGGTACTATGACAATCCCAAG	0.498													72	90	---	---	---	---					
PPP2R5E	5529	broad.mit.edu	37	14	63881922	63881922	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr14:63881922delA	uc001xgd.1	-	4	1075	c.485delT	c.(484-486)ttgfs	p.L162fs	PPP2R5E_uc010tsf.1_Frame_Shift_Del_p.L86fs|PPP2R5E_uc010tsg.1_Frame_Shift_Del_p.L86fs|PPP2R5E_uc010tsh.1_Frame_Shift_Del_p.L162fs|PPP2R5E_uc001xge.2_Frame_Shift_Del_p.L162fs|PPP2R5E_uc001xgf.1_Non-coding_Transcript	NM_006246	NP_006237	Q16537	2A5E_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.	162					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		TTGGCTTTCCAAAAATCGTAT	0.313													51	44	---	---	---	---					
FLJ36000	284124	broad.mit.edu	37	17	21911266	21911267	+	RNA	INS	-	-	TGTGTG	rs66463211	by1000genomes	TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:21911266_21911267insTGTGTG	uc002gza.2	+	1		c.1994_1995insTGTGTG								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		gtttttgtttctgtgtgtgtgt	0.505													3	4	---	---	---	---					
KRTAP4-5	85289	broad.mit.edu	37	17	39305775	39305776	+	In_Frame_Ins	INS	-	-	GGCAGCAGCTGGGGC	rs58117746		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:39305775_39305776insGGCAGCAGCTGGGGC	uc002hwb.3	-	0	279_280	c.244_245insGCCCCAGCTGCTGCC	c.(244-246)cag>cGCCCCAGCTGCTGCCag	p.81_82insRPSCC		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA.	81	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].		Missing (in allele KAP4.5-v1).			keratin filament		p.Q82H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcaggtggtctggcagcagcag	0.653													37	34	---	---	---	---					
STAT5A	6776	broad.mit.edu	37	17	40452261	40452262	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr17:40452261_40452262insG	uc002hzj.2	+	7	1437_1438	c.795_796insG	c.(793-798)ggcgggfs	p.G265fs	STAT5A_uc010cya.2_Frame_Shift_Ins_p.G265fs|STAT5A_uc010cyb.2_Frame_Shift_Ins_p.G265fs|STAT5A_uc010cyc.2_Frame_Shift_Ins_p.G235fs	NM_003152	NP_003143	P42229	STA5A_HUMAN	Homo sapiens signal transducer and activator of transcription 5A (STAT5A), mRNA.	265					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCGGGAACGGCGGGCCCCCCGA	0.688													9	103	---	---	---	---					
TGIF1	7050	broad.mit.edu	37	18	3452223	3452223	+	Frame_Shift_Del	DEL	T	T	-	rs11571510		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr18:3452223delT	uc002klz.3	+	0	633	c.246delT	c.(244-246)cctfs	p.P82fs	TGIF1_uc002klu.3_Intron|TGIF1_uc002klv.3_Intron|TGIF1_uc002klx.3_Intron|TGIF1_uc002klw.3_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.3_Intron|TGIF1_uc002kma.3_Intron|TGIF1_uc002kmb.3_5'Flank	NM_170695	NP_777480	Q15583	TGIF1_HUMAN	Homo sapiens TGFB-induced factor homeobox 1 (TGIF1), transcript variant 1, mRNA.	82					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P83fs*51(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GCGCCCCCCCTCCTCCACCGG	0.766													20	68	---	---	---	---					
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs71199613		TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	uc002zfm.3	-	0	167_168	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)ccg>ccCAGCTGCTGCGCCCCg	p.49_49P>PSCCAP	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	49	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688													9	38	---	---	---	---					
NEFH	4744	broad.mit.edu	37	22	29885599	29885604	+	In_Frame_Del	DEL	AGGAAG	AGGAAG	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chr22:29885599_29885604delAGGAAG	uc003afo.3	+	3	2041_2046	c.1970_1975delAGGAAG	c.(1969-1977)aaggaagag>aag	p.EE658del	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	664	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCCCAGAGAAGGAAGAGGCCAAGTC	0.558													13	218	---	---	---	---					
UBQLN2	29978	broad.mit.edu	37	X	56592091	56592092	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-P4-A5EB-01A-11D-A28G-10	TCGA-P4-A5EB-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cf6557-09fb-4516-af87-39037f809609	fa076b69-fed9-4164-af20-7592bff142fd	g.chrX:56592091_56592092delAA	uc004dus.3	+	0	2066_2067	c.1785_1786delAA	c.(1783-1788)ttaaacfs	p.L595fs	UBQLN2_uc011moq.1_Frame_Shift_Del_p.L483fs	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	Homo sapiens ubiquilin 2 (UBQLN2), mRNA.	595	UBA.					cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						TGGGGTTCTTAAACCGTGAAGC	0.515													145	21	---	---	---	---					
