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
CCDC74A	90557	broad.mit.edu	37	2	132288316	132288316	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr2:132288316G>T	ENST00000467992.2	+	1	1080	c.766G>T	c.(766-768)Ggc>Tgc	p.G256C	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000295171.6_Missense_Mutation_p.G154C			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	154								p.G154C(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GCGTCTTGCGGGCGGTAGCGC	0.632000													6	77					3.59834e-05	4.44635e-05	0.001168	1	0
CDK17	5128	broad.mit.edu	37	12	96694092	96694092	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr12:96694092T>C	ENST00000261211.3	-	6	1193	c.590A>G	c.(589-591)aAg>aGg	p.K197R	CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000542666.1_Missense_Mutation_p.K144R|CDK17_ENST00000543119.2_Missense_Mutation_p.K197R	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	197	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity	p.K197R(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						CTCTCCAAGCTTTTCCAATTT	0.289000													3	79					0	0	0.004672	0	0
CXorf22	170063	broad.mit.edu	37	X	35971801	35971801	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chrX:35971801G>A	ENST00000297866.5	+	7	1205	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	380								p.G380E(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGTAAAGATGGATTTTTGAGA	0.318000													11	62					0	0	0.010729	0	0
RP1	6101	broad.mit.edu	37	8	55540191	55540191	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr8:55540191G>A	ENST00000220676.1	+	4	3897	c.3749G>A	c.(3748-3750)tGt>tAt	p.C1250Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1250					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.C1250Y(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTGAAGTCTGTGTTTTGGAA	0.438000													14	159					0	0	0.003163	0	0
SOS2	6655	broad.mit.edu	37	14	50600930	50600930	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr14:50600930C>A	ENST00000216373.5	-	19	3260	c.2986G>T	c.(2986-2988)Gga>Tga	p.G996*	SOS2_ENST00000543680.1_Nonsense_Mutation_p.G963*	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	996	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.G996*(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GATGCACTTCCCATGGGGTTA	0.313000													28	134					6.38683e-12	1.00735e-11	0.008361	1	0
IRS1	3667	broad.mit.edu	37	2	227660594	227660594	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr2:227660594C>A	ENST00000305123.4	-	1	3881	c.2861G>T	c.(2860-2862)tGg>tTg	p.W954L		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	954					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.W954L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCTCTCCTGCCAGGCTGCCCT	0.672000													14	79					3.52763e-06	4.65551e-06	0.004990	1	0
COL3A1	1281	broad.mit.edu	37	2	189849926	189849926	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr2:189849926A>T	ENST00000304636.3	+	3	456	c.286A>T	c.(286-288)Act>Tct	p.T96S	COL3A1_ENST00000317840.5_Missense_Mutation_p.T96S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	96					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.T96S(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTATTAGCCTACTCGCCCTCC	0.338000													20	66					0	0	0.008871	0	0
NLRP13	126204	broad.mit.edu	37	19	56424482	56424482	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr19:56424482A>T	ENST00000588751.1	-	5	725	c.701T>A	c.(700-702)gTg>gAg	p.V234E	NLRP13_ENST00000342929.3_Missense_Mutation_p.V234E			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	234	NACHT.						ATP binding	p.V234E(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGCCCTCCCCACCAAGACTAT	0.502000													55	106					0	0	0.014410	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531256	140531256	+	Missense_Mutation	SNP	C	C	A	rs147347959		TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr5:140531256C>A	ENST00000231136.1	+	1	1418	c.1418C>A	c.(1417-1419)gCc>gAc	p.A473D	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A337D	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		473	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A473D(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCGTCAGCGCCACAGACAGA	0.642000													7	86					0.00621372	0.00696798	0.006214	1	0
MCM4	4173	broad.mit.edu	37	8	48883365	48883365	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr8:48883365G>T	ENST00000262105.2	+	11	1938	c.1729G>T	c.(1729-1731)Gac>Tac	p.D577Y	MCM4_ENST00000523944.1_Missense_Mutation_p.D577Y	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	577	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.D577Y(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CGATGAGTTCGACAAGATGAA	0.498000													13	44					2.32078e-09	3.43689e-09	0.003163	1	0
MXRA5	25878	broad.mit.edu	37	X	3238914	3238914	+	Silent	SNP	T	T	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chrX:3238914T>C	ENST00000217939.6	-	5	4966	c.4812A>G	c.(4810-4812)caA>caG	p.Q1604Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1604						extracellular region		p.Q1604Q(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTCTGGTTAGTTGATGAGAAG	0.483000													19	99					0	0	0.007413	0	0
CASS4	57091	broad.mit.edu	37	20	55012296	55012296	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr20:55012296T>C	ENST00000371336.3	+	2	314	c.113T>C	c.(112-114)cTg>cCg	p.L38P	CASS4_ENST00000434344.1_Missense_Mutation_p.L38P|CASS4_ENST00000360314.3_Missense_Mutation_p.L38P	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	38	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.L38P(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GGGGACATCCTGACCATTCTG	0.597000													8	71					0	0	0.006122	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	65					0	0	0.003080	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806454	6806454	+	Silent	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr11:6806454G>T	ENST00000307401.4	+	1	207	c.186G>T	c.(184-186)ctG>ctT	p.L62L		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L62L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGTACCTCCTGCTTGGGCAGC	0.532000													27	131					1.06801e-11	1.65755e-11	0.009535	1	0
CDH9	1007	broad.mit.edu	37	5	26881622	26881622	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr5:26881622C>A	ENST00000231021.4	-	12	2165	c.1993G>T	c.(1993-1995)Ggg>Tgg	p.G665W		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	665					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G665W(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCTTCTTCCCCGCCGCCTTCA	0.428000													19	166					7.21436e-19	1.18609e-18	0.008871	1	0
C16orf72	29035	broad.mit.edu	37	16	9197114	9197114	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr16:9197114A>C	ENST00000327827.7	+	3	978	c.581A>C	c.(580-582)cAt>cCt	p.H194P		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	194								p.H194P(1)		endometrium(4)|large_intestine(2)|lung(2)	8						ATAGCTCTGCATGGTAAAGCC	0.443000													9	26					0	0	0.010729	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64589670	64589670	+	Silent	SNP	C	C	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr3:64589670C>G	ENST00000498707.1	-	25	4017	c.3675G>C	c.(3673-3675)ctG>ctC	p.L1225L	ADAMTS9_ENST00000295903.4_Silent_p.L1197L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1225	TSP type-1 7.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L1225L(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGGTCTAGGCAGGGTAGCAC	0.542000													21	44					0	0	0.008871	0	0
RYR2	6262	broad.mit.edu	37	1	237774102	237774102	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr1:237774102A>G	ENST00000366574.2	+	36	5041	c.4724A>G	c.(4723-4725)cAc>cGc	p.H1575R	RYR2_ENST00000542537.1_Missense_Mutation_p.H1559R|RYR2_ENST00000360064.6_Missense_Mutation_p.H1573R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1575	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.H1573R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGAGTGAGCACAAGAACCCC	0.532000													3	14					0	0	0.009096	0	0
CSMD3	114788	broad.mit.edu	37	8	113569029	113569029	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr8:113569029C>A	ENST00000297405.5	-	25	4441	c.4197G>T	c.(4195-4197)gaG>gaT	p.E1399D	CSMD3_ENST00000343508.3_Missense_Mutation_p.E1359D|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1295D|CSMD3_ENST00000352409.3_Missense_Mutation_p.E1399D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1399	Sushi 7.					integral to membrane|plasma membrane		p.E1399D(1)|p.E1359D(1)		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						ATGCCCTTCTCTCCCCTGTCA	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	68					2.68362e-12	4.30266e-12	0.013537	1	0
GCM1	8521	broad.mit.edu	37	6	52993300	52993300	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr6:52993300G>C	ENST00000259803.7	-	6	1226	c.1015C>G	c.(1015-1017)Cag>Gag	p.Q339E		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	339						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.Y338_Q339>*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GGAAGCTGCTGGTAAAAGGGT	0.458000													17	57					0	0	0.004007	0	0
C1orf173	127254	broad.mit.edu	37	1	75065513	75065513	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr1:75065513A>G	ENST00000326665.5	-	11	1810	c.1592T>C	c.(1591-1593)tTg>tCg	p.L531S	C1orf173_ENST00000420661.2_Missense_Mutation_p.L334S|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	531	Glu-rich.							p.L531S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTATCATCCAAAGGTGACTG	0.388000													6	176					0	0	0.001984	0	0
TNK1	8711	broad.mit.edu	37	17	7291918	7291918	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr17:7291918A>C	ENST00000570896.1	+	12	2117	c.1671A>C	c.(1669-1671)agA>agC	p.R557S	TNK1_ENST00000311668.2_Missense_Mutation_p.R557S|TNK1_ENST00000576812.1_Missense_Mutation_p.R562S			Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	562	Pro-rich.				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	p.R562S(1)		central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				GGCCCAAAAGAAAACCCCCAC	0.607000													7	24					0	0	0.001984	0	0
FAM181A	90050	broad.mit.edu	37	14	94394802	94394802	+	Silent	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr14:94394802G>T	ENST00000267594.5	+	3	664	c.357G>T	c.(355-357)cgG>cgT	p.R119R	FAM181A_ENST00000557000.2_Silent_p.R57R|FAM181A_ENST00000556222.1_Silent_p.R57R|FAM181A_ENST00000557719.1_Silent_p.R57R	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	119								p.R119L(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GGCTCCCGCGGGGCCTTCCTG	0.657000													9	22					1.12685e-05	1.44774e-05	0.004482	1	0
AFAP1L2	84632	broad.mit.edu	37	10	116060424	116060424	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr10:116060424G>A	ENST00000369271.3	-	14	1868	c.1568C>T	c.(1567-1569)cCt>cTt	p.P523L	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.P576L|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.P523L	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	523					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	p.P523L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		ATCTGCAACAGGGGTGGCTTC	0.582000													8	72					0	0	0.008291	0	0
OVCH1	341350	broad.mit.edu	37	12	29614910	29614910	+	Silent	SNP	A	A	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr12:29614910A>T	ENST00000318184.5	-	19	2156	c.2157T>A	c.(2155-2157)atT>atA	p.I719I	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	719	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.I719I(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CATGCACTTGAATCTGCTGTA	0.433000													12	146					0	0	0.001855	0	0
CRYZL1	9946	broad.mit.edu	37	21	34974653	34974653	+	Splice_Site	SNP	T	T	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr21:34974653T>A	ENST00000361534.2	-	9	677		c.e9-2		CRYZL1_ENST00000381540.3_Splice_Site|CRYZL1_ENST00000381554.3_Splice_Site|CRYZL1_ENST00000445393.1_Splice_Site|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000290244.5_Splice_Site			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1						quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding	p.?(1)		lung(1)|prostate(1)|urinary_tract(1)	3						ACCAAATGCCTGTGTAGAAAA	0.338000													12	45					0	0	0.013537	0	0
TUBA3E	112714	broad.mit.edu	37	2	130953906	130953906	+	Silent	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr2:130953906G>T	ENST00000312988.7	-	2	142	c.42C>A	c.(40-42)gtC>gtA	p.V14V		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	14					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.V14V(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TGCCGATCTGGACACCCGCCT	0.502000													15	68					1.1804e-14	1.90831e-14	0.003954	1	0
MFHAS1	9258	broad.mit.edu	37	8	8748245	8748245	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr8:8748245G>C	ENST00000276282.6	-	1	2910	c.2324C>G	c.(2323-2325)cCc>cGc	p.P775R		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	775								p.P775R(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TTCCTGGCTGGGGGTGGACCG	0.617000													5	61					0	0	0.001168	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	65					0	0	0.003080	0	0
IRS4	8471	broad.mit.edu	37	X	107977758	107977758	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chrX:107977758C>A	ENST00000372129.2	-	1	1893	c.1817G>T	c.(1816-1818)cGt>cTt	p.R606L		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	606						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.R606L(1)|p.R606H(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGATTTTCCACGTTCACCATC	0.542000													35	154					1.04352e-10	1.58158e-10	0.003755	1	0
DMXL2	23312	broad.mit.edu	37	15	51741321	51741321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr15:51741321G>A	ENST00000251076.5	-	43	9258	c.8971C>T	c.(8971-8973)Cga>Tga	p.R2991*	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.R2355*|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.R2992*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2991						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.R2991*(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCAATGTTTCGAAATATGGAC	0.438000													31	101					0	0	0.013726	0	0
SHOC2	8036	broad.mit.edu	37	10	112764460	112764460	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr10:112764460A>G	ENST00000369452.4	+	5	1414	c.1069A>G	c.(1069-1071)Atc>Gtc	p.I357V	SHOC2_ENST00000489390.1_3'UTR|SHOC2_ENST00000265277.5_Missense_Mutation_p.I311V	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	357					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	p.I357V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GTTTTCTACCATCTATTCCCT	0.368000													14	65					0	0	0.002450	0	0
TAF6	6878	broad.mit.edu	37	7	99705129	99705129	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr7:99705129G>C	ENST00000344095.4	-	15	2299	c.1774C>G	c.(1774-1776)Ccc>Gcc	p.P592A	TAF6_ENST00000453269.2_Missense_Mutation_p.P592A|TAF6_ENST00000437822.2_Missense_Mutation_p.P629A|TAF6_ENST00000452041.1_Missense_Mutation_p.P592A|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000418432.2_Missense_Mutation_p.P516A|TAF6_ENST00000472509.1_Missense_Mutation_p.P649A	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	592					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P592A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTGCTGGGGGGTGCGGTGGTG	0.667000													22	104					0	0	0.006320	0	0
ADRA2A	150	broad.mit.edu	37	10	112838174	112838174	+	Silent	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr10:112838174C>T	ENST00000280155.2	+	1	1385	c.420C>T	c.(418-420)tgC>tgT	p.C140C		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	125					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	p.C125C(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	TGCACCTGTGCGCCATCAGCC	0.612000													3	32					0	0	0.004672	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203159	140203159	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr5:140203159C>T	ENST00000529859.1	+	1	1799	c.1799C>T	c.(1798-1800)tCg>tTg	p.S600L	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S600L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S600L	NM_018908.2	NP_061731.1												p.S600L(7)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCCTGATTCGGGCTACAAC	0.672000													10	54					0	0	0.013537	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20240685	20240685	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr13:20240685C>T	ENST00000361479.5	+	10	2208	c.2140C>T	c.(2140-2142)Ctt>Ttt	p.L714F	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.L714F	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	714					cell cycle	cytoplasm|nucleus		p.L714F(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TAACAATGTGCTTGTGTACGA	0.408000													3	82					0	0	0.004672	0	0
ZWINT	11130	broad.mit.edu	37	10	58118343	58118343	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr10:58118343C>A	ENST00000373944.3	-	7	804	c.766G>T	c.(766-768)Ggg>Tgg	p.G256W	ZWINT_ENST00000318387.2_Missense_Mutation_p.G136W|ZWINT_ENST00000361148.6_Missense_Mutation_p.G209W|ZWINT_ENST00000395405.1_Missense_Mutation_p.G256W|ZWINT_ENST00000460654.1_5'UTR			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	256					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	p.G256W(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GGGTCTCTCCCCATGGTGTCT	0.567000													29	96					9.17885e-22	1.54843e-21	0.003271	1	0
UBQLN4	56893	broad.mit.edu	37	1	156020169	156020169	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr1:156020169C>T	ENST00000368309.3	-	4	746	c.654G>A	c.(652-654)atG>atA	p.M218I	UBQLN4_ENST00000472638.1_Intron|UBQLN4_ENST00000368307.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	218						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	p.M218I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					TGGCCATAATCATGTGACGCA	0.522000													47	112					0	0	0.014410	0	0
LRP1B	53353	broad.mit.edu	37	2	141625676	141625676	+	Silent	SNP	T	T	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr2:141625676T>A	ENST00000389484.3	-	26	5297	c.4326A>T	c.(4324-4326)acA>acT	p.T1442T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1442					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.T1442T(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCTGGCGTCTGTCCACACTA	0.363000										TSP Lung(27;0.18)			26	96					0	0	0.005443	0	0
DTX2	113878	broad.mit.edu	37	7	76121568	76121568	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr7:76121568C>A	ENST00000324432.5	+	6	1517	c.1007C>A	c.(1006-1008)gCa>gAa	p.A336E	DTX2_ENST00000446820.2_Missense_Mutation_p.A336E|DTX2_ENST00000446600.1_Missense_Mutation_p.A245E|DTX2_ENST00000413936.2_Missense_Mutation_p.A336E|DTX2_ENST00000307569.8_Missense_Mutation_p.A336E|DTX2_ENST00000430490.2_Missense_Mutation_p.A336E	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	336					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	p.A336E(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CAGGCGCTCGCAGGTAGGTGC	0.647000													14	31					1.15088e-07	1.59479e-07	0.004007	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14851640	14851640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr18:14851640G>T	ENST00000358984.4	+	36	3520	c.3340G>T	c.(3340-3342)Gag>Tag	p.E1114*		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1199								p.E1114*(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAAATACTTTGAGGACATTAA	0.348000													7	24					2.17888e-05	2.76276e-05	0.006214	1	0
OPALIN	93377	broad.mit.edu	37	10	98105750	98105750	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr10:98105750A>G	ENST00000419479.1	-	7	851	c.344T>C	c.(343-345)aTg>aCg	p.M115T	OPALIN_ENST00000371172.3_Missense_Mutation_p.M125T|OPALIN_ENST00000393870.2_Missense_Mutation_p.M114T|OPALIN_ENST00000393871.1_Missense_Mutation_p.M102T|OPALIN_ENST00000536387.1_Missense_Mutation_p.M115T	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	125						Golgi apparatus|integral to membrane|plasma membrane		p.M115T(1)|p.M125T(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CCTTCTTTCCATTTCTATAGT	0.517000													38	104					0	0	0.006230	0	0
FGB	2244	broad.mit.edu	37	4	155490722	155490722	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr4:155490722G>C	ENST00000302068.4	+	7	1078	c.1015G>C	c.(1015-1017)Gaa>Caa	p.E339Q	FGB_ENST00000509493.1_Missense_Mutation_p.E120Q|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	339	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.E339Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GGGACCCACAGAACTTTTGAT	0.363000													14	77					0	0	0.004990	0	0
NFASC	23114	broad.mit.edu	37	1	204937421	204937421	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr1:204937421G>A	ENST00000367172.4	+	9	1079	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	NFASC_ENST00000339876.6_Missense_Mutation_p.G251S|NFASC_ENST00000338586.6_Missense_Mutation_p.G251S|NFASC_ENST00000360049.4_Missense_Mutation_p.G262S|NFASC_ENST00000401399.1_Missense_Mutation_p.G251S|NFASC_ENST00000367169.4_Missense_Mutation_p.G251S|NFASC_ENST00000404907.1_Missense_Mutation_p.G262S|NFASC_ENST00000404076.1_Missense_Mutation_p.G245S|NFASC_ENST00000367171.4_Missense_Mutation_p.G251S|NFASC_ENST00000338515.6_Missense_Mutation_p.G251S|NFASC_ENST00000539706.1_Missense_Mutation_p.G262S|NFASC_ENST00000513543.1_Missense_Mutation_p.G262S|NFASC_ENST00000367170.4_Missense_Mutation_p.G251S|NFASC_ENST00000403080.1_Missense_Mutation_p.G251S			O94856	NFASC_HUMAN	neurofascin	251	Ig-like C2-type 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.G251S(2)|p.G262S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTATCCCCAGGGCACCGCGAG	0.582000													10	83					0	0	0.008291	0	0
KIAA0232	9778	broad.mit.edu	37	4	6860175	6860175	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr4:6860175G>T	ENST00000307659.5	+	6	915	c.460G>T	c.(460-462)Gag>Tag	p.E154*	KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.E154*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	154							ATP binding	p.E154*(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CAAAAAGTTAGAGGGGTCTCC	0.328000													4	30					0.00116845	0.0013179	0.001168	1	0
TDRD5	163589	broad.mit.edu	37	1	179604812	179604812	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr1:179604812C>A	ENST00000444136.1	+	9	1560	c.1310C>A	c.(1309-1311)aCa>aAa	p.T437K	TDRD5_ENST00000294848.8_Missense_Mutation_p.T437K|TDRD5_ENST00000367614.1_Missense_Mutation_p.T437K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	437					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.T437K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAAGTAGAAACAAACAAATCA	0.393000													8	29					5.4927e-09	7.95212e-09	0.004482	1	0
NPAP1	23742	broad.mit.edu	37	15	24921430	24921430	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr15:24921430A>T	ENST00000329468.2	+	1	890	c.416A>T	c.(415-417)aAg>aTg	p.K139M		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.K139M(1)									AAGGCCAGGAAGCCCATCCCA	0.622000													6	41					0	0	0.001168	0	0
LRRC15	131578	broad.mit.edu	37	3	194081021	194081021	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr3:194081021T>A	ENST00000347624.3	-	2	837	c.752A>T	c.(751-753)tAc>tTc	p.Y251F	LRRC15_ENST00000428839.1_Missense_Mutation_p.Y257F|LRRC15_ENST00000439944.2_Missense_Mutation_p.Y257F	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	251						integral to membrane		p.Y251F(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GTTGGACAGGTAGAGTCTCTG	0.552000													16	41					0	0	0.004990	0	0
GCM1	8521	broad.mit.edu	37	6	52993301	52993301	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr6:52993301G>T	ENST00000259803.7	-	6	1225	c.1014C>A	c.(1012-1014)taC>taA	p.Y338*		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	338						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.Y338_Q339>*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GAAGCTGCTGGTAAAAGGGTT	0.463000													17	55					1.15088e-07	1.59479e-07	0.004007	1	0
EVI2A	2123	broad.mit.edu	37	17	29645432	29645432	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr17:29645432T>G	ENST00000247270.3	-	3	1005	c.669A>C	c.(667-669)aaA>aaC	p.K223N	NF1_ENST00000581113.2_3'UTR|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.T140P|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.K200N|EVI2A_ENST00000462804.2_Missense_Mutation_p.K200N|NF1_ENST00000358273.4_Intron	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	200						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)|p.K223N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		CTGTGAGCTGTTTTGTTCTTT	0.453000													6	44					0	0	0.004482	0	0
KMT2C	58508	broad.mit.edu	37	7	151945190	151945190	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr7:151945190T>A	ENST00000355193.2	-	14	2547	c.2329A>T	c.(2329-2331)Agc>Tgc	p.S777C	KMT2C_ENST00000262189.6_Missense_Mutation_p.S777C					lysine (K)-specific methyltransferase 2C									p.S777C(2)									TCTGCCTTGCTTATGTCTGCT	0.423000													37	191					0	0	0.004289	0	0
LCE1F	353137	broad.mit.edu	37	1	152748899	152748899	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr1:152748899C>A	ENST00000334371.2	+	1	52	c.52C>A	c.(52-54)Ccc>Acc	p.P18T		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	18	Pro-rich.				keratinization			p.P18T(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			caagtgcactcccaagtgccc	0.632000													17	72					8.34094e-07	1.12371e-06	0.008871	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													3	88					0	0	0.000602	0	0
TGS1	96764	broad.mit.edu	37	8	56695311	56695311	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr8:56695311C>T	ENST00000260129.5	+	2	583	c.106C>T	c.(106-108)Cga>Tga	p.R36*		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	36					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	p.R36*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TCGCAGGGATCGAAAATTGTA	0.318000													25	78					0	0	0.007291	0	0
NCAM1	4684	broad.mit.edu	37	11	113076778	113076778	+	Silent	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr11:113076778C>A	ENST00000316851.7	+	4	474	c.474C>A	c.(472-474)gtC>gtA	p.V158V	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Silent_p.V50V|NCAM1_ENST00000401611.2_Silent_p.V167V	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	168	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.V167V(2)|p.V158V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GATTCATAGTCCTGTCCAACA	0.502000													23	47					7.88262e-20	1.3183e-19	0.003330	1	0
S1PR1	1901	broad.mit.edu	37	1	101705215	101705215	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr1:101705215C>A	ENST00000305352.6	+	2	1050	c.675C>A	c.(673-675)taC>taA	p.Y225*		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	225					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.Y225*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCAGAATCTACTCCTTGGTCA	0.567000													15	61					4.7546e-09	6.93529e-09	0.004007	1	0
SALL3	27164	broad.mit.edu	37	18	76754914	76754914	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr18:76754914C>A	ENST00000537592.2	+	2	2923	c.2923C>A	c.(2923-2925)Ccc>Acc	p.P975T	SALL3_ENST00000575389.2_Intron|SALL3_ENST00000536229.3_Intron	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	975					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P975T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGGTAAGTGTCCCAGCACTGT	0.657000													10	12					7.48243e-07	1.0151e-06	0.006214	1	0
COL5A3	50509	broad.mit.edu	37	19	10102467	10102467	+	Silent	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr19:10102467G>A	ENST00000264828.3	-	23	2029	c.1944C>T	c.(1942-1944)tcC>tcT	p.S648S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	648	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.S648S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTCAAACCTGGGACCCATGGT	0.557000													6	106					0	0	0.004482	0	0
ENTPD2	954	broad.mit.edu	37	9	139944797	139944797	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr9:139944797C>T	ENST00000355097.2	-	6	1015	c.968G>A	c.(967-969)tGc>tAc	p.C323Y	ENTPD2_ENST00000312665.5_Missense_Mutation_p.C323Y	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	323						integral to membrane	ATP binding	p.C323Y(1)		endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGAGAAGGGGCAGGAGGAGAA	0.607000											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	106					0	0	0.000602	0	0
DMBT1	1755	broad.mit.edu	37	10	124358327	124358327	+	Silent	SNP	A	A	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr10:124358327A>C	ENST00000368909.3	+	26	3100	c.2994A>C	c.(2992-2994)ggA>ggC	p.G998G	DMBT1_ENST00000368956.2_Silent_p.G499G|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Silent_p.G988G|DMBT1_ENST00000338354.3_Silent_p.G998G|DMBT1_ENST00000368955.3_Silent_p.G988G|DMBT1_ENST00000330163.4_Silent_p.G499G	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	998	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.G998G(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGTGAATGGAGGTGACAGGT	0.537000													32	271					0	0	0.011902	0	0
CLCN6	1185	broad.mit.edu	37	1	11896114	11896114	+	Silent	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr1:11896114G>A	ENST00000346436.6	+	18	1936	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	CLCN6_ENST00000376487.3_Silent_p.T606T|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Silent_p.T628T	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	628	CBS 1.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.T628T(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGCGCACCACGGTCCACCATG	0.582000													3	20					0	0	0.004672	0	0
LAMA2	3908	broad.mit.edu	37	6	129465145	129465145	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr6:129465145A>G	ENST00000421865.2	+	5	788	c.739A>G	c.(739-741)Agg>Ggg	p.R247G		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	247	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R247G(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGATTTCAGAGGATCCGCAC	0.433000													15	97					0	0	0.003163	0	0
MYO10	4651	broad.mit.edu	37	5	16680116	16680116	+	Silent	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr5:16680116G>A	ENST00000513610.1	-	33	4936	c.4482C>T	c.(4480-4482)aaC>aaT	p.N1494N	MYO10_ENST00000274203.9_Silent_p.N851N|MYO10_ENST00000505695.1_Silent_p.N833N|MYO10_ENST00000515803.1_Silent_p.N833N|MYO10_ENST00000427430.2_Silent_p.N851N	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1494	PH 2.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.N1494N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGTCAGTCACGTTTTGAATGG	0.567000													3	29					0	0	0.004672	0	0
RTTN	25914	broad.mit.edu	37	18	67727182	67727182	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr18:67727182G>A	ENST00000255674.6	-	36	5130	c.4844C>T	c.(4843-4845)tCa>tTa	p.S1615L	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1615							binding	p.S1615L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCACATTGCTGAAAGAAGAGA	0.468000													22	36					0	0	0.012319	0	0
NEIL3	55247	broad.mit.edu	37	4	178257420	178257420	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr4:178257420G>T	ENST00000264596.3	+	4	690	c.572G>T	c.(571-573)gGg>gTg	p.G191V		NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	191					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	p.G191V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCTGGAGTAGGGAACATCATC	0.378000								Base excision repair (BER), DNA glycosylases					15	103					3.52763e-06	4.65551e-06	0.004990	1	0
BAP1	8314	broad.mit.edu	37	3	52437181	52437181	+	Silent	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr3:52437181G>A	ENST00000460680.1	-	14	2334	c.1863C>T	c.(1861-1863)ccC>ccT	p.P621P	BAP1_ENST00000296288.5_Silent_p.P603P	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	621	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L622M(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCCCACTCAAGGGCTCGCCAG	0.607000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							4	39					0	0	0.004482	0	0
OR5M3	219482	broad.mit.edu	37	11	56237132	56237132	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr11:56237132G>T	ENST00000312240.2	-	1	882	c.842C>A	c.(841-843)cCc>cAc	p.P281H		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P281H(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ATTCAACATGGGGATCACTGT	0.418000													9	32					5.50884e-06	7.17258e-06	0.013537	1	0
SEMA5A	9037	broad.mit.edu	37	5	9154736	9154736	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr5:9154736C>T	ENST00000382496.5	-	12	2010	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	449	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.E449K(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGGAAGAGCTCAATCTCTTCC	0.542000													8	114					0	0	0.004482	0	0
TATDN2	9797	broad.mit.edu	37	3	10320619	10320619	+	Silent	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr3:10320619G>A	ENST00000287652.4	+	7	3247	c.2196G>A	c.(2194-2196)acG>acA	p.T732T	TATDN2_ENST00000448281.2_Silent_p.T732T|RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000496355.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	732						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.T732T(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCTTGCATACGGTCCGAGAGA	0.537000													5	32					0	0	0.000602	0	0
SEC22A	26984	broad.mit.edu	37	3	122942517	122942517	+	Nonsense_Mutation	SNP	T	T	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr3:122942517T>G	ENST00000309934.4	+	2	1190	c.294T>G	c.(292-294)taT>taG	p.Y98*	SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000492595.1_Nonsense_Mutation_p.Y98*|SEC22A_ENST00000481965.2_Intron	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	98	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity	p.Y98*(1)		NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		TTACTACTTATAACATGATGA	0.388000													50	135					0	0	0.014410	0	0
GDPD1	284161	broad.mit.edu	37	17	57311875	57311875	+	Silent	SNP	T	T	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr17:57311875T>C	ENST00000284116.4	+	2	302	c.165T>C	c.(163-165)aaT>aaC	p.N55N	GDPD1_ENST00000581140.1_Silent_p.N55N|GDPD1_ENST00000581276.1_Silent_p.N55N	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	55	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	p.N55N(2)		endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATTTGGAGAATACAATGGCAG	0.289000													5	65					0	0	0.001168	0	0
NCKAP5	344148	broad.mit.edu	37	2	133486443	133486443	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr2:133486443C>T	ENST00000409261.1	-	18	5899	c.5526G>A	c.(5524-5526)atG>atA	p.M1842I	NCKAP5_ENST00000409213.1_Missense_Mutation_p.M523I|NCKAP5_ENST00000317721.6_Missense_Mutation_p.M1842I|NCKAP5_ENST00000405974.3_Missense_Mutation_p.M523I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1842							protein binding	p.M362I(1)|p.M1842I(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTGGCTTGCCATTGGGTCTT	0.552000													28	122					0	0	0.010818	0	0
PCDH8	5100	broad.mit.edu	37	13	53422550	53422550	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr13:53422550C>A	ENST00000377942.3	-	1	225	c.22G>T	c.(22-24)Ggc>Tgc	p.G8C	PCDH8_ENST00000338862.4_Missense_Mutation_p.G8C	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	8					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.G8C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CAGGGGCTGCCCCAACGCCTC	0.592000													4	51					0.00024832	0.000291964	0.009096	1	0
FRY	10129	broad.mit.edu	37	13	32653165	32653165	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr13:32653165C>T	ENST00000380250.3	+	2	761	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.P89S(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TATGGCAGAGCCCCTGGTGAG	0.403000													20	114					0	0	0.010504	0	0
SLFN13	146857	broad.mit.edu	37	17	33769261	33769261	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr17:33769261C>A	ENST00000285013.6	-	5	1518	c.1243G>T	c.(1243-1245)Gag>Tag	p.E415*	SLFN13_ENST00000526861.1_Nonsense_Mutation_p.E415*|SLFN13_ENST00000360502.2_Nonsense_Mutation_p.E97*|SLFN13_ENST00000542635.1_Nonsense_Mutation_p.E415*|SLFN13_ENST00000534689.1_Nonsense_Mutation_p.E97*|SLFN13_ENST00000533791.1_Nonsense_Mutation_p.E415*	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	415						intracellular	ATP binding	p.E415*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAAGACAGCTCCTTCCAGAGG	0.428000													6	61					3.59834e-05	4.44635e-05	0.001168	1	0
SEC16B	89866	broad.mit.edu	37	1	177930770	177930770	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr1:177930770G>A	ENST00000308284.6	-	6	831	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.R248W|SEC16B_ENST00000464631.1_Missense_Mutation_p.R248W	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	248					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.R248W(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGATCATCCCGCTCCGGGGCA	0.537000													7	76					0	0	0.001984	0	0
IGLV10-54	28772	broad.mit.edu	37	22	22569450	22569450	+	RNA	SNP	G	G	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr22:22569450G>C	ENST00000390287.2	+	0	155																											CAGCAACATTGTTGGCAACCA	0.587000													5	10					0	0	0.001168	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772816	140772816	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr5:140772816G>A	ENST00000398604.2	+	1	436	c.436G>A	c.(436-438)Gcg>Acg	p.A146T	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1												p.A146T(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACGAAATCGCGGTTCCTGG	0.443000													23	49					0	0	0.014323	0	0
FRMPD4	9758	broad.mit.edu	37	X	12632918	12632918	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chrX:12632918C>A	ENST00000380682.1	+	4	846	c.340C>A	c.(340-342)Ctg>Atg	p.L114M		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	114	PDZ.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.L104M(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGAAGGCAAGCTGATCCCGGG	0.512000													15	92					0.000308642	0.000360702	0.003163	1	0
MARCH1	55016	broad.mit.edu	37	4	164506998	164506998	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr4:164506998G>A	ENST00000503008.1	-	6	1302	c.326C>T	c.(325-327)tCc>tTc	p.S109F	MARCH1_ENST00000514618.1_Missense_Mutation_p.S365F|MARCH1_ENST00000274056.7_Missense_Mutation_p.S109F|MARCH1_ENST00000339875.5_Missense_Mutation_p.S92F	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	109					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.S109F(1)|p.S92F(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTGGAGGCAGGACTGGTGGAC	0.542000													9	58					0	0	0.006214	0	0
XPO4	64328	broad.mit.edu	37	13	21373447	21373447	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr13:21373447A>T	ENST00000400602.2	-	16	2214	c.2179T>A	c.(2179-2181)Tgg>Agg	p.W727R	XPO4_ENST00000255305.6_Missense_Mutation_p.W727R	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	727					protein transport	cytoplasm|nucleus	protein binding	p.W700R(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GCTAAATTCCACCAGTTCTCA	0.378000													6	70					0	0	0.001984	0	0
GPC5	2262	broad.mit.edu	37	13	93518617	93518617	+	Silent	SNP	A	A	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr13:93518617A>T	ENST00000377067.3	+	8	2016	c.1644A>T	c.(1642-1644)gcA>gcT	p.A548A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	548						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.A548A(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAACAGGAGCAGGATGTGCAG	0.438000													11	82					0	0	0.008291	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635164	122635164	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr7:122635164C>G	ENST00000249284.2	-	1	590	c.525G>C	c.(523-525)caG>caC	p.Q175H		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	175					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.Q175H(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAACTGATACTGATGAAAAT	0.418000													31	88					0	0	0.010818	0	0
MOXD1	26002	broad.mit.edu	37	6	132693821	132693821	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr6:132693821G>T	ENST00000367963.3	-	4	707	c.589C>A	c.(589-591)Cca>Aca	p.P197T	MOXD1_ENST00000336749.3_Missense_Mutation_p.P129T	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	197					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.P197T(1)|p.P129T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TCTTTGTTTGGGATGGGGACC	0.363000													5	79					1.23904e-05	1.58141e-05	0.000602	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84659933	84659933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr15:84659933G>T	ENST00000286744.5	+	23	4164	c.3940G>T	c.(3940-3942)Gga>Tga	p.G1314*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.G1314*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1314	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.G1314*(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCAGCCCTTGGAGCAAACGT	0.498000													45	187					2.77807e-22	4.72759e-22	0.013114	1	0
FLT1	2321	broad.mit.edu	37	13	29041231	29041231	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr13:29041231A>G	ENST00000282397.4	-	3	448	c.197T>C	c.(196-198)aTg>aCg	p.M66T	FLT1_ENST00000539099.1_Missense_Mutation_p.M66T|FLT1_ENST00000541932.1_Missense_Mutation_p.M66T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	66	Ig-like C2-type 1.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.M66T(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTTACTCACCATTTCAGGCAA	0.448000													20	107					0	0	0.003330	0	0
DCLK2	166614	broad.mit.edu	37	4	151169531	151169531	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr4:151169531G>T	ENST00000296550.7	+	14	2704	c.1950G>T	c.(1948-1950)tgG>tgT	p.W650C	DCLK2_ENST00000302176.8_Missense_Mutation_p.W667C|DCLK2_ENST00000506325.1_Missense_Mutation_p.W649C	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	650	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	p.W650C(1)|p.W667C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GTCACCCCTGGGTGTCAGTAA	0.478000													3	36					0.00024832	0.000291964	0.009096	1	0
IFNA4	3441	broad.mit.edu	37	9	21187398	21187398	+	Missense_Mutation	SNP	C	C	T	rs145690832	byFrequency	TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr9:21187398C>T	ENST00000421715.1	-	1	200	c.133G>A	c.(133-135)Gga>Aga	p.G45R		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	45					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.G45R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAGATTCTTCCCATTTGTGCC	0.527000													24	89					0	0	0.003954	0	0
GREB1	9687	broad.mit.edu	37	2	11740993	11740993	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr2:11740993T>C	ENST00000381486.2	+	16	2701	c.2401T>C	c.(2401-2403)Tgc>Cgc	p.C801R	GREB1_ENST00000234142.5_Missense_Mutation_p.C801R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	801						integral to membrane		p.C801R(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ATTGCTCAACTGCAGGGAGGT	0.527000													43	182					0	0	0.014410	0	0
TEKT4	150483	broad.mit.edu	37	2	95537412	95537412	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr2:95537412G>A	ENST00000295201.4	+	1	225	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	TEKT4_ENST00000427593.2_Missense_Mutation_p.A30T|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	30					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.A30T(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTCCGGCCTGGCCACCGCCAG	0.672000													4	27					0	0	0.009096	0	0
NECAP1	25977	broad.mit.edu	37	12	8244385	8244385	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr12:8244385A>G	ENST00000339754.5	+	4	400	c.322A>G	c.(322-324)Att>Gtt	p.I108V		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	108					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane		p.I108V(1)		cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TTTCATTGGCATTGGCTTCAC	0.527000													3	35					0	0	0.004672	0	0
MTMR6	9107	broad.mit.edu	37	13	25848295	25848295	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr13:25848295T>C	ENST00000381801.5	-	2	816	c.55A>G	c.(55-57)Agt>Ggt	p.S19G	MTMR6_ENST00000540661.1_Missense_Mutation_p.S19G	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	19						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.S19G(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTGCTGGTACTGAATCGGTCA	0.348000													5	52					0	0	0.000602	0	0
STS	412	broad.mit.edu	37	X	7267979	7267979	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chrX:7267979G>T	ENST00000217961.4	+	10	1649	c.1429G>T	c.(1429-1431)Ggt>Tgt	p.G477C		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	477					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	p.G477C(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CAACCCCGTGGGTTCCAACGG	0.478000									Ichthyosis				21	104					1.96292e-10	2.92928e-10	0.010504	1	0
NPAS3	64067	broad.mit.edu	37	14	34243683	34243683	+	Silent	SNP	T	T	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr14:34243683T>C	ENST00000346562.2	+	7	971	c.897T>C	c.(895-897)caT>caC	p.H299H	NPAS3_ENST00000551492.1_Silent_p.H336H|NPAS3_ENST00000548645.1_Silent_p.H301H|NPAS3_ENST00000357798.5_Silent_p.H318H|NPAS3_ENST00000356141.4_Silent_p.H331H	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.H331H(1)|p.H318H(1)|p.H299H(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTGACTGCCATATGTTCGTCA	0.468000													30	95					0	0	0.012213	0	0
SPTA1	6708	broad.mit.edu	37	1	158632684	158632684	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr1:158632684G>T	ENST00000368148.3	-	17	2452	c.2272C>A	c.(2272-2274)Cat>Aat	p.H758N	SPTA1_ENST00000368147.3_Missense_Mutation_p.H758N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	758					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.H758N(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAATCAGGATGGCCTATTTCT	0.438000													11	71					3.86212e-05	4.7421e-05	0.008291	1	0
STK26	51765	broad.mit.edu	37	X	131197485	131197485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chrX:131197485G>T	ENST00000394334.2	+	4	551	c.298G>T	c.(298-300)Gaa>Taa	p.E100*	MST4_ENST00000481105.1_Nonsense_Mutation_p.E122*|MST4_ENST00000354719.6_Nonsense_Mutation_p.E100*|MST4_ENST00000496850.1_Nonsense_Mutation_p.E100*|MST4_ENST00000394335.2_Nonsense_Mutation_p.E23*	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		100	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	p.E100*(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GATAATAATGGAATACCTGGG	0.323000													16	109					0.00074312	0.000843072	0.006122	1	0
PCDH17	27253	broad.mit.edu	37	13	58207733	58207733	+	Silent	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr13:58207733C>A	ENST00000377918.3	+	1	1079	c.1053C>A	c.(1051-1053)atC>atA	p.I351I		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	351	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.I351I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGCCGTCCATCGGTTTCGTCT	0.662000													4	36					3.59834e-05	4.44635e-05	0.001168	1	0
FSD2	123722	broad.mit.edu	37	15	83451732	83451732	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr15:83451732C>A	ENST00000334574.8	-	4	962	c.781G>T	c.(781-783)Gag>Tag	p.E261*	FSD2_ENST00000541889.1_Nonsense_Mutation_p.E261*			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	261								p.E261*(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCCAAGATCTCGTTGTAATGT	0.383000													4	213					0.00909568	0.0101412	0.009096	1	0
GPC5	2262	broad.mit.edu	37	13	92560221	92560221	+	Silent	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr13:92560221C>A	ENST00000377067.3	+	6	1683	c.1311C>A	c.(1309-1311)atC>atA	p.I437I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	437						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.I437I(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GAAATGGAATCAAAGCCCAGT	0.393000													11	59					3.07112e-06	4.10894e-06	0.010729	1	0
MAP3K5	4217	broad.mit.edu	37	6	137041635	137041635	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr6:137041635T>A	ENST00000359015.4	-	2	901	c.541A>T	c.(541-543)Atc>Ttc	p.I181F		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	181					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	p.I181F(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TAGAGGATGATGTTGTTGGCC	0.468000													13	47					0	0	0.002450	0	0
PVRL1	5818	broad.mit.edu	37	11	119509492	119509492	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr11:119509492C>A	ENST00000341398.2	-	7	1175	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N	RP11-196E1.3_ENST00000532153.1_RNA|RP11-196E1.3_ENST00000601999.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	0					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.K392N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		AAGGCTCCGGCTTCTGGGAGA	0.632000													5	17					3.59834e-05	4.44635e-05	0.001168	1	0
PDE4D	5144	broad.mit.edu	37	5	58271618	58271618	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr5:58271618G>A	ENST00000340635.6	-	14	2054	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	PDE4D_ENST00000405755.2_Missense_Mutation_p.P505S|PDE4D_ENST00000507116.1_Missense_Mutation_p.P563S|PDE4D_ENST00000360047.5_Missense_Mutation_p.P491S|PDE4D_ENST00000358923.6_Missense_Mutation_p.P325S|PDE4D_ENST00000502484.2_Missense_Mutation_p.P566S|PDE4D_ENST00000503258.1_Missense_Mutation_p.P497S|PDE4D_ENST00000546160.1_Missense_Mutation_p.P566S|PDE4D_ENST00000317118.8_Missense_Mutation_p.P336S	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	627					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.P491S(2)|p.P505S(1)|p.P566S(1)|p.P627S(1)|p.P497S(1)|p.P563S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AGCTGGAGAGGCTTTGTTGGG	0.483000													5	26					0	0	0.001168	0	0
KRI1	65095	broad.mit.edu	37	19	10668512	10668512	+	Silent	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr19:10668512C>A	ENST00000312962.6	-	15	1456	c.1437G>T	c.(1435-1437)acG>acT	p.T479T	KRI1_ENST00000361821.5_Silent_p.T475T	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	479								p.T479T(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCTTCTTGCCCGTCAAGGGGG	0.677000													5	27					2.7689e-08	3.94975e-08	0.001984	1	0
GALNT14	79623	broad.mit.edu	37	2	31147016	31147016	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr2:31147016G>T	ENST00000349752.5	-	13	1988	c.1349C>A	c.(1348-1350)gCc>gAc	p.A450D	GALNT14_ENST00000356174.3_Missense_Mutation_p.A417D|GALNT14_ENST00000324589.5_Missense_Mutation_p.A455D|GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000406653.1_Missense_Mutation_p.A430D|GALNT14_ENST00000420311.2_Missense_Mutation_p.A415D	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	450	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A450D(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TTTGACCTTGGCACAGGGGCT	0.517000													54	189					9.79885e-19	1.59746e-18	0.014410	1	0
CREB5	9586	broad.mit.edu	37	7	28610075	28610075	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr7:28610075C>A	ENST00000357727.2	+	5	774	c.384C>A	c.(382-384)aaC>aaA	p.N128K	CREB5_ENST00000409603.1_Missense_Mutation_p.N95K|CREB5_ENST00000396300.2_Missense_Mutation_p.N121K|CREB5_ENST00000396299.2_Missense_Mutation_p.N95K	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	128					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N128K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ATGACACCAACGTTGTGATTC	0.592000													15	71					1.01871e-10	1.55614e-10	0.008871	1	0
NOD1	10392	broad.mit.edu	37	7	30492655	30492655	+	Splice_Site	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr7:30492655C>T	ENST00000222823.4	-	6	903	c.376_splice	c.e6-1	p.V126_splice	NOD1_ENST00000423334.2_Splice_Site_p.V126_splice	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	126					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	p.V126V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TATACCTGCTCACTGGAGGGA	0.582000													11	52					0	0	0.002450	0	0
APOA5	116519	broad.mit.edu	37	11	116660968	116660968	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr11:116660968G>T	ENST00000542499.1	-	4	1049	c.977C>A	c.(976-978)cCa>cAa	p.P326Q	APOA5_ENST00000227665.4_Missense_Mutation_p.P326Q	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	326					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	p.P326Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TTGAAACTCTGGGGCGAAGGC	0.597000													15	28					0.00074312	0.000843072	0.006122	1	0
IL1RL1	9173	broad.mit.edu	37	2	102956626	102956626	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr2:102956626C>A	ENST00000311734.2	+	4	680	c.341C>A	c.(340-342)cCa>cAa	p.P114Q	IL1RL1_ENST00000409584.1_Missense_Mutation_p.P114Q|IL1RL1_ENST00000404917.2_5'UTR|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000233954.1_Missense_Mutation_p.P114Q|IL1RL1_ENST00000393393.3_Missense_Mutation_p.P114Q			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	114	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.P114Q(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TGCAATGTTCCAGATTATTTG	0.348000													16	50					1.02788e-11	1.60814e-11	0.004990	1	0
ATF7IP	55729	broad.mit.edu	37	12	14578064	14578064	+	Silent	SNP	T	T	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr12:14578064T>C	ENST00000544627.1	+	2	1559	c.1239T>C	c.(1237-1239)gaT>gaC	p.D413D	ATF7IP_ENST00000536444.1_Silent_p.D405D|ATF7IP_ENST00000261168.4_Silent_p.D405D|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Silent_p.D405D|ATF7IP_ENST00000540793.1_Silent_p.D405D			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	405	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	p.D405D(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CTTCTGCAGATCTTGTAGAAA	0.328000													4	76					0	0	0.000602	0	0
OR2T8	343172	broad.mit.edu	37	1	248084381	248084381	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr1:248084381C>T	ENST00000319968.4	+	1	62	c.62C>T	c.(61-63)gCc>gTc	p.A21V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A21V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CACACCAGAGCCCACCAAGTC	0.448000													11	161					0	0	0.010729	0	0
SORCS3	22986	broad.mit.edu	37	10	106937932	106937932	+	Splice_Site	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr10:106937932G>T	ENST00000369701.3	+	14	2236		c.e14+1		SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3							integral to membrane	neuropeptide receptor activity	p.?(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACATCATGACGTGAGTACTTC	0.498000													3	45					0.00024832	0.000291964	0.009096	1	0
HOXD8	3234	broad.mit.edu	37	2	176995521	176995521	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr2:176995521C>A	ENST00000313173.4	+	1	1054	c.427C>A	c.(427-429)Cag>Aag	p.Q143K	HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000544999.1_Missense_Mutation_p.Q143K|HOXD8_ENST00000450510.2_Missense_Mutation_p.Q143K|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	143					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q143K(1)		central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CGATAACTTACAGAGACAGCC	0.582000													21	97					4.26978e-12	6.78965e-12	0.003330	1	0
HCN3	57657	broad.mit.edu	37	1	155257693	155257693	+	Silent	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr1:155257693G>T	ENST00000368358.3	+	8	1772	c.1764G>T	c.(1762-1764)cgG>cgT	p.R588R	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	588						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R588R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTCGGGGTCGGGCCCCGAGCA	0.617000													10	53					0.000673444	0.000773066	0.008291	1	0
IL1RL1	9173	broad.mit.edu	37	2	102956627	102956627	+	Silent	SNP	A	A	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr2:102956627A>G	ENST00000311734.2	+	4	681	c.342A>G	c.(340-342)ccA>ccG	p.P114P	IL1RL1_ENST00000409584.1_Silent_p.P114P|IL1RL1_ENST00000404917.2_5'UTR|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000233954.1_Silent_p.P114P|IL1RL1_ENST00000393393.3_Silent_p.P114P			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	114	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.P114Q(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GCAATGTTCCAGATTATTTGA	0.343000													16	50					0	0	0.004990	0	0
FAM181A	90050	broad.mit.edu	37	14	94394801	94394801	+	Missense_Mutation	SNP	G	G	T	rs146784848		TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr14:94394801G>T	ENST00000267594.5	+	3	663	c.356G>T	c.(355-357)cGg>cTg	p.R119L	FAM181A_ENST00000557000.2_Missense_Mutation_p.R57L|FAM181A_ENST00000556222.1_Missense_Mutation_p.R57L|FAM181A_ENST00000557719.1_Missense_Mutation_p.R57L	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	119								p.R119L(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CGGCTCCCGCGGGGCCTTCCT	0.657000													8	22					5.18039e-06	6.79051e-06	0.003080	1	0
MYH11	4629	broad.mit.edu	37	16	15814806	15814806	+	Missense_Mutation	SNP	C	C	T	rs138863103		TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr16:15814806C>T	ENST00000338282.6	-	33	4787	c.4681G>A	c.(4681-4683)Gcc>Acc	p.A1561T	MYH11_ENST00000396324.3_Missense_Mutation_p.A1568T|MYH11_ENST00000300036.5_Missense_Mutation_p.A1561T|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.1_Missense_Mutation_p.A1561T|MYH11_ENST00000452625.2_Missense_Mutation_p.A1568T	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1561					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.A1561T(1)|p.A1568T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCAGTTTGGCGTCCTCCGTG	0.602000			T	CBFB	AML								13	81					0	0	0.001855	0	0
RGS9	8787	broad.mit.edu	37	17	63133675	63133675	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr17:63133675A>G	ENST00000449996.3	+	1	89	c.17A>G	c.(16-18)cAa>cGa	p.Q6R	RGS9_ENST00000262406.9_Missense_Mutation_p.Q6R|RGS9_ENST00000443584.3_Missense_Mutation_p.Q6R	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	6					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.Q6R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ATCCGACACCAAGGCCAGCAG	0.622000													8	54					0	0	0.008291	0	0
OR5H6	79295	broad.mit.edu	37	3	97983253	97983253	+	Missense_Mutation	SNP	C	C	A	rs36040433	byFrequency	TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr3:97983253C>A	ENST00000383696.2	+	1	166	c.125C>A	c.(124-126)cCg>cAg	p.P42Q	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P42Q(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGTAAAATACCGCTCTTCCTG	0.418000													42	155					1.48734e-19	2.46618e-19	0.013114	1	0
LCE1F	353137	broad.mit.edu	37	1	152749165	152749165	+	Silent	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr1:152749165C>T	ENST00000334371.2	+	1	318	c.318C>T	c.(316-318)tgC>tgT	p.C106C		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	106					keratinization			p.C106C(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCTGCTGCGGAGGGGGCA	0.627000													8	40					0	0	0.002450	0	0
GRIN2B	2904	broad.mit.edu	37	12	13768186	13768186	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr12:13768186C>A	ENST00000279593.3	-	7	1725	c.1516G>T	c.(1516-1518)Gcc>Tcc	p.A506S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	506					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.A506S(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCATGTAGGCCCTCTTCATG	0.502000													7	42					8.12818e-05	9.85542e-05	0.001984	1	0
ZMYM5	9205	broad.mit.edu	37	13	20425887	20425887	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr13:20425887C>A	ENST00000337963.4	-	3	698	c.434G>T	c.(433-435)gGa>gTa	p.G145V	ZMYM5_ENST00000382905.4_Missense_Mutation_p.G145V|ZMYM5_ENST00000382907.4_Missense_Mutation_p.G145V	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	145						nucleus	zinc ion binding	p.G145L(2)		kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GTTTTTAGTTCCAGGAAGTCC	0.368000													8	117					0.000157383	0.000188471	0.003080	1	0
PALM	5064	broad.mit.edu	37	19	746366	746366	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr19:746366C>A	ENST00000264560.7	+	8	778	c.584C>A	c.(583-585)gCg>gAg	p.A195E	PALM_ENST00000338448.5_Missense_Mutation_p.A239E|PALM_ENST00000606643.1_3'UTR	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	239					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		p.A239E(1)		endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		ATCCACAAAGCGGACGAGGTC	0.697000													15	36					1.5739e-10	2.36695e-10	0.004007	1	0
HGF	3082	broad.mit.edu	37	7	81386504	81386504	+	Splice_Site	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr7:81386504C>T	ENST00000222390.5	-	4	709		c.e4+1		HGF_ENST00000453018.1_Silent_p.R58R|HGF_ENST00000354224.6_Splice_Site|HGF_ENST00000453411.1_Splice_Site|HGF_ENST00000457544.2_Splice_Site|HGF_ENST00000444829.2_Splice_Site|HGF_ENST00000423064.2_Splice_Site	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)						epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.?(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACTGTTCTTACCTGTGTTCGT	0.388000													15	42					0	0	0.004007	0	0
PLD5	200150	broad.mit.edu	37	1	242264084	242264084	+	Splice_Site	SNP	T	T	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr1:242264084T>A	ENST00000442594.2	-	10	1473	c.963_splice	c.e10-1	p.K322_splice	PLD5_ENST00000427495.1_Splice_Site_p.K352_splice|PLD5_ENST00000536534.1_Splice_Site_p.K414_splice	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	414						integral to membrane	catalytic activity	p.K322*(1)|p.K414*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TCAAAAAATTTCTGTAAGAAA	0.373000													18	77					0	0	0.007413	0	0
KIT	3815	broad.mit.edu	37	4	55569902	55569902	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr4:55569902G>C	ENST00000288135.5	+	5	866	c.769G>C	c.(769-771)Gag>Cag	p.E257Q		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	257	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.E257Q(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAAACTACAGGAGAAATATAA	0.343000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				5	46					0	0	0.000602	0	0
NLRP14	338323	broad.mit.edu	37	11	7063760	7063760	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr11:7063760T>A	ENST00000299481.4	+	4	849	c.503T>A	c.(502-504)gTg>gAg	p.V168E		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	168					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.V168E(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTGTTCGATGTGGATGTCAAA	0.468000													19	88					0	0	0.010504	0	0
PAPPA	5069	broad.mit.edu	37	9	118982243	118982243	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr9:118982243C>A	ENST00000328252.3	+	5	2315	c.1946C>A	c.(1945-1947)cCc>cAc	p.P649H	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	649					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.P649H(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCCTTCACGCCCAATCAAGTC	0.587000													24	80					5.35356e-11	8.24278e-11	0.002780	1	0
WDFY3	23001	broad.mit.edu	37	4	85662997	85662997	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr4:85662997G>A	ENST00000322366.6	-	38	6558	c.6151C>T	c.(6151-6153)Cgt>Tgt	p.R2051C	WDFY3_ENST00000295888.4_Missense_Mutation_p.R2051C			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2051						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.R2051C(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCCACCACACGCTGTGTGAAA	0.383000													9	90					0	0	0.008291	0	0
ZMYM5	9205	broad.mit.edu	37	13	20425888	20425888	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr13:20425888C>A	ENST00000337963.4	-	3	697	c.433G>T	c.(433-435)Gga>Tga	p.G145*	ZMYM5_ENST00000382905.4_Nonsense_Mutation_p.G145*|ZMYM5_ENST00000382907.4_Nonsense_Mutation_p.G145*	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	145						nucleus	zinc ion binding	p.G145L(2)		kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTTTTAGTTCCAGGAAGTCCC	0.363000													8	118					0.000157383	0.000188471	0.003080	1	0
SCML2	10389	broad.mit.edu	37	X	18264732	18264732	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chrX:18264732T>A	ENST00000251900.4	-	13	1946	c.1787A>T	c.(1786-1788)cAt>cTt	p.H596L	SCML2_ENST00000398048.3_Missense_Mutation_p.H332L	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	596					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.H596L(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTTAACTTCATGGGGACTGCT	0.413000													19	93					0	0	0.007413	0	0
XYLT1	64131	broad.mit.edu	37	16	17211812	17211812	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr16:17211812C>A	ENST00000261381.6	-	11	2332	c.2248G>T	c.(2248-2250)Gag>Tag	p.E750*		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	750					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.E750*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATAGCCTCTCCTTGGCATCC	0.572000													5	40					0.000602214	0.000695414	0.000602	1	0
PAN3	255967	broad.mit.edu	37	13	28854560	28854560	+	Missense_Mutation	SNP	C	C	G	rs141442348		TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr13:28854560C>G	ENST00000399613.1	+	15	1664	c.1601C>G	c.(1600-1602)aCt>aGt	p.T534S	PAN3_ENST00000380958.3_Missense_Mutation_p.T734S|PAN3_ENST00000282391.5_Missense_Mutation_p.T422S			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	734	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	p.T734S(1)|p.T534S(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TATTTGTTGACTGACCAAAAC	0.383000													3	85					0	0	0.004672	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103006491	103006491	+	Silent	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr11:103006491G>T	ENST00000375735.2	+	17	2532	c.2388G>T	c.(2386-2388)cgG>cgT	p.R796R	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.R796R	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	796	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAGAAATCCGGGCTAAATATT	0.323000													9	29					3.09899e-07	4.26385e-07	0.004482	1	0
CASS4	57091	broad.mit.edu	37	20	55012297	55012297	+	Silent	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr20:55012297G>T	ENST00000371336.3	+	2	315	c.114G>T	c.(112-114)ctG>ctT	p.L38L	CASS4_ENST00000434344.1_Silent_p.L38L|CASS4_ENST00000360314.3_Silent_p.L38L	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	38	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.L38P(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GGGACATCCTGACCATTCTGG	0.592000													8	71					1.67942e-08	2.41338e-08	0.006122	1	0
WDR17	116966	broad.mit.edu	37	4	177069485	177069485	+	Splice_Site	SNP	T	T	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr4:177069485T>C	ENST00000393643.2	+	13	2148	c.1897_splice	c.e13+1	p.Y632_splice	WDR17_ENST00000507824.2_Splice_Site_p.Y639_splice|WDR17_ENST00000508596.1_Splice_Site_p.Y632_splice|WDR17_ENST00000280190.4_Splice_Site_p.Y656_splice	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	656								p.Y656Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAGATGTATATGGTAGAGTGT	0.358000													12	47					0	0	0.001855	0	0
ASH1L	55870	broad.mit.edu	37	1	155408569	155408569	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr1:155408569G>A	ENST00000368346.3	-	5	6016	c.5377C>T	c.(5377-5379)Cat>Tat	p.H1793Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.H1793Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1793					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.H1793Y(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTGATATGATGGGGGGAACAG	0.443000													13	157					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179398651	179398651	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr2:179398651C>T	ENST00000589042.1	-	358	102915	c.102691G>A	c.(102691-102693)Gaa>Aaa	p.E34231K	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25291K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31663K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32590K|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25358K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25166K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585358.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32590	Ser-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E25166K(1)|p.E31661K(1)|p.E31663K(1)|p.E25291K(1)|p.E25358K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATAGACTTCTCTCACACCT	0.408000													7	46					0	0	0.003080	0	0
KEAP1	9817	broad.mit.edu	37	19	10600347	10600347	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr19:10600347A>T	ENST00000171111.5	-	4	2055	c.1508T>A	c.(1507-1509)aTg>aAg	p.M503K	KEAP1_ENST00000393623.2_Missense_Mutation_p.M503K	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.M503K(1)		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)			GATGGTGTTCATTGCTGTGAT	0.597000													22	49					0	0	0.003330	0	0
EMR2	30817	broad.mit.edu	37	19	14854511	14854511	+	Silent	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr19:14854511G>T	ENST00000315576.3	-	19	2720	c.2269C>A	c.(2269-2271)Cgg>Agg	p.R757R	EMR2_ENST00000353876.1_Silent_p.R664R|EMR2_ENST00000346057.1_Silent_p.R708R|EMR2_ENST00000392967.2_Silent_p.R746R|EMR2_ENST00000392965.3_Silent_p.R699R|EMR2_ENST00000594076.1_Silent_p.R664R|EMR2_ENST00000601345.1_Silent_p.R746R|EMR2_ENST00000596991.2_Silent_p.R746R|EMR2_ENST00000595839.1_Silent_p.R615R|EMR2_ENST00000594294.1_Silent_p.R708R|EMR2_ENST00000353005.1_Silent_p.R615R	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	757					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.R757R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GCCATGACCCGGGCAGCCGGA	0.577000													44	67					5.48756e-27	9.42112e-27	0.011902	1	0
MT-CO1	4512	broad.mit.edu	37	MT	6054	6054	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chrM:6054G>A	ENST00000361624.2	+	1	151	c.151G>A	c.(151-153)Gac>Aac	p.51_51insN						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TTCTAGGTAACGACCACATCT	0.478000													3	0					0	0	0.009096	0	0
MAP3K5	4217	broad.mit.edu	37	6	137041644	137041644	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr6:137041644C>A	ENST00000359015.4	-	2	892	c.532G>T	c.(532-534)Gcc>Tcc	p.A178S		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	178					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	p.A178S(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATGTTGTTGGCCATGCTGAAA	0.458000													14	44					4.3838e-07	5.98914e-07	0.001855	1	0
NOL6	65083	broad.mit.edu	37	9	33469596	33469596	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr9:33469596A>C	ENST00000379471.2	-	5	715	c.628T>G	c.(628-630)Ttg>Gtg	p.L210V	NOL6_ENST00000455041.2_Missense_Mutation_p.L150V|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	210					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	p.L210V(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TGGTGAGCCAAGTGGGCCAGG	0.617000													4	129					0	0	0.000602	0	0
NRCAM	4897	broad.mit.edu	37	7	107823140	107823140	+	Splice_Site	SNP	G	G	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr7:107823140G>C	ENST00000379028.3	-	23	2999	c.2530_splice	c.e23+1	p.D843_splice	NRCAM_ENST00000379024.4_Splice_Site_p.D824_splice|NRCAM_ENST00000351718.4_Splice_Site_p.D827_splice|NRCAM_ENST00000413765.2_Splice_Site_p.D824_splice|NRCAM_ENST00000379022.4_Splice_Site_p.D843_splice|NRCAM_ENST00000425651.2_Splice_Site_p.D843_splice			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	843					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.D827E(1)|p.D843E(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ATCACTTACGGTCTTCTCCAG	0.522000													10	23					0	0	0.006214	0	0
NMUR2	56923	broad.mit.edu	37	5	151784153	151784153	+	Silent	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr5:151784153G>A	ENST00000255262.3	-	1	687	c.522C>T	c.(520-522)tcC>tcT	p.S174S	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	174					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.S174S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGAAGAGCACGGAGAAGCCCC	0.637000													11	75					0	0	0.001855	0	0
ZNF831	128611	broad.mit.edu	37	20	57768653	57768653	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr20:57768653C>T	ENST00000371030.2	+	1	2579	c.2579C>T	c.(2578-2580)gCc>gTc	p.A860V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	860						intracellular	nucleic acid binding|zinc ion binding	p.A860V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGCAGGATGCCGATCCCGGG	0.652000													4	85					0	0	0.009096	0	0
FAT3	120114	broad.mit.edu	37	11	92086791	92086791	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr11:92086791G>C	ENST00000298047.6	+	1	1530	c.1513G>C	c.(1513-1515)Ggg>Cgg	p.G505R	FAT3_ENST00000525166.1_Missense_Mutation_p.G355R|FAT3_ENST00000541502.1_Missense_Mutation_p.G505R|FAT3_ENST00000409404.2_Missense_Mutation_p.G505R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	505	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.G505R(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGAGAAAATGGGTACATCAC	0.383000										TCGA Ovarian(4;0.039)			15	33					0	0	0.002450	0	0
ZNF804A	91752	broad.mit.edu	37	2	185731221	185731221	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr2:185731221T>A	ENST00000302277.6	+	2	831	c.237T>A	c.(235-237)taT>taA	p.Y79*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	79						intracellular	zinc ion binding	p.Y79*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTAATTCATATGACCATGCTC	0.353000													4	63					0	0	0.009096	0	0
FAM83B	222584	broad.mit.edu	37	6	54735136	54735136	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr6:54735136C>T	ENST00000306858.7	+	2	208	c.92C>T	c.(91-93)gCc>gTc	p.A31V		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	31								p.A31V(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TATCGAGTAGCCATTGATATT	0.388000													25	106					0	0	0.003330	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839574	100839574	+	Silent	SNP	G	G	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr7:100839574G>T	ENST00000223114.4	-	6	931	c.765C>A	c.(763-765)acC>acA	p.T255T	MOGAT3_ENST00000440203.2_Silent_p.T255T|MOGAT3_ENST00000379423.3_Intron	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	255					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	p.T255T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCTTCTTGAAGGTGAGCTGGC	0.582000													4	21					0.000602214	0.000695414	0.000602	1	0
IGHV1-58	28464	broad.mit.edu	37	14	107078583	107078583	+	RNA	SNP	G	G	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr14:107078583G>C	ENST00000390628.2	-	0	201																											AGCTAGTAAAGGTGAATCCAG	0.562000													17	31					0	0	0.007413	0	0
PSPH	5723	broad.mit.edu	37	7	56087408	56087408	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr7:56087408C>G	ENST00000395471.3	-	5	965	c.160G>C	c.(160-162)Ggg>Cgg	p.G54R	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.G54R			P78330	SERB_HUMAN	phosphoserine phosphatase	54					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	p.G54R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGCACTGCCCCGCCCATGGCT	0.617000													3	27					0	0	0.009096	0	0
TENM4	26011	broad.mit.edu	37	11	78412983	78412983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr11:78412983G>A	ENST00000278550.7	-	28	5137	c.4675C>T	c.(4675-4677)Cga>Tga	p.R1559*		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.R1559*(4)									AACCGAATTCGGATGTTCCCA	0.488000													4	91					0	0	0.009096	0	0
NIFK	84365	broad.mit.edu	37	2	122488515	122488515	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr2:122488515C>G	ENST00000285814.4	-	4	590	c.518G>C	c.(517-519)aGg>aCg	p.R173T		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		173					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.R173T(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						TAATTTCTTCCTGAGTAATCT	0.393000													12	116					0	0	0.001855	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603645	138603645	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr7:138603645C>G	ENST00000440172.1	-	2	775	c.727G>C	c.(727-729)Gtt>Ctt	p.V243L	KIAA1549_ENST00000242365.4_Missense_Mutation_p.V193L|KIAA1549_ENST00000422774.1_Missense_Mutation_p.V243L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	243						integral to membrane		p.V193L(1)|p.V243L(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGAGTTGGAACGATGCCCTCA	0.522000			O	BRAF	pilocytic astrocytoma								17	64					0	0	0.004990	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889141	23889141	+	Silent	SNP	T	T	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr15:23889141T>C	ENST00000532292.1	-	1	2034	c.1940A>G	c.(1939-1941)tAa>tGa	p.*647*		NM_019066.4	NP_061939.3			MAGE-like 2									p.*647*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTACACCTATTAGCGGGGAGG	0.587000													5	22					0	0	0.000602	0	0
BAP1	8314	broad.mit.edu	37	3	52437180	52437180	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr3:52437180A>T	ENST00000460680.1	-	14	2335	c.1864T>A	c.(1864-1866)Ttg>Atg	p.L622M	BAP1_ENST00000296288.5_Missense_Mutation_p.L604M	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	622	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L622M(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCCCCACTCAAGGGCTCGCCA	0.602000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							4	38					0	0	0.004482	0	0
VARS	7407	broad.mit.edu	37	6	31751989	31751989	+	Splice_Site	SNP	A	A	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr6:31751989A>G	ENST00000375663.3	-	13	2112		c.e13+1		VARS_ENST00000444930.2_Splice_Site	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase						translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	p.?(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	ACAGTCCCCCACCTGGTATCT	0.572000													9	164					0	0	0.006214	0	0
EXTL3	2137	broad.mit.edu	37	8	28574048	28574048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr8:28574048C>T	ENST00000220562.4	+	3	1374	c.472C>T	c.(472-474)Cga>Tga	p.R158*	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	158						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.R158*(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCTGCCCATCCGACTGCTCCC	0.602000													3	45					0	0	0.004672	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149221870	149221870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr5:149221870C>T	ENST00000309241.5	+	10	2778	c.2746C>T	c.(2746-2748)Cga>Tga	p.R916*	PPARGC1B_ENST00000360453.4_Nonsense_Mutation_p.R877*|PPARGC1B_ENST00000394320.3_Nonsense_Mutation_p.R916*|PPARGC1B_ENST00000403750.1_Nonsense_Mutation_p.R852*	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	916	RRM.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	p.R916*(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CATGAGCTCCCGAGAGCTGAA	0.532000													8	53					0	0	0.008291	0	0
RENBP	5973	broad.mit.edu	37	X	153209788	153209788	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chrX:153209788A>C	ENST00000393700.3	-	2	190	c.110T>G	c.(109-111)aTg>aGg	p.M37R	RENBP_ENST00000412763.1_Missense_Mutation_p.M37R|RENBP_ENST00000369997.3_Missense_Mutation_p.M37R	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	37					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	p.M27R(1)|p.M37R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GGAGTGCTCCATCCAGAAAGC	0.622000													14	83					0	0	0.003163	0	0
RNASEH1-AS1	100506054	broad.mit.edu	37	2	3608112	3608131	+	RNA	DEL	TTCCTTCCTTCCTTCCTTCT	TTCCTTCCTTCCTTCCTTCT	-	rs66497914	by1000genomes	TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr2:3608112_3608131delTTCCTTCCTTCCTTCCTTCT	ENST00000438436.1	+	0	789				AC108488.3_ENST00000426725.1_RNA	NR_038429.1																						ccttccttccttccttccttccttccttcttctttccttc	0.405													2	4	---	---	---	---					
ACTR2	10097	broad.mit.edu	37	2	65473856	65473859	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr2:65473856_65473859delAGAG	ENST00000260641.5	+	3	515_518	c.358_361delAGAG	c.(358-363)agfs	p.RE120fs	ACTR2_ENST00000542850.1_Frame_Shift_Del_p.RE65fs|ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000377982.4_Frame_Shift_Del_p.RE125fs	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	120					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						AACCAAAAACAGAGAGAAGATTGT	0.338													9	130	---	---	---	---					
CASC6	101929083	broad.mit.edu	37	6	92356678	92356679	+	RNA	DEL	AA	AA	-	rs56890015		TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr6:92356678_92356679delAA	ENST00000437768.1	-	0	263																											aattttagccAAAAAAAAAAAA	0.337													2	4	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5352636	5352638	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr7:5352636_5352638delGAG	ENST00000399537.4	-	27	8232_8234	c.7884_7886delCTC	c.(7882-7887)tca>tc	p.SS2670del	TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2670	Ser-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		agaggaggatgaggaggaggagg	0.650													2	4	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5430007	5430011	+	Frame_Shift_Del	DEL	AAAAG	AAAAG	-	rs34840801		TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr7:5430007_5430011delAAAAG	ENST00000399434.2	-	3	528_532	c.370_374delCTTTT	c.(370-375)tfs	p.LF124fs	TNRC18_ENST00000399537.4_Intron|TNRC18_ENST00000430969.1_Intron			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	0							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		aaaaaaaaaaaaaaGCCAGCATCCT	0.546													2	4	---	---	---	---					
MACC1	346389	broad.mit.edu	37	7	20198725	20198726	+	Frame_Shift_Ins	INS	-	-	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr7:20198725_20198726insA	ENST00000400331.5	-	5	1566_1567	c.1258_1259insT	c.(1258-1260)gggfs	p.G420fs	MACC1_ENST00000589011.1_Frame_Shift_Ins_p.G420fs|MACC1_ENST00000332878.4_Frame_Shift_Ins_p.G420fs	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	420					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTGCTTCCCCCAGAGCTGAAAC	0.356													8	52	---	---	---	---					
PIK3CG	5294	broad.mit.edu	37	7	106509606	106509606	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr7:106509606delC	ENST00000359195.3	+	2	1910	c.1600delC	c.(1600-1602)ccfs	p.P534fs	PIK3CG_ENST00000440650.2_Frame_Shift_Del_p.P534fs|PIK3CG_ENST00000496166.1_Frame_Shift_Del_p.P534fs	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	534					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TAAGCATCAGCCCACCCCTGA	0.537													19	68	---	---	---	---					
KLHL28	54813	broad.mit.edu	37	14	45414728	45414728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr14:45414728delC	ENST00000396128.4	-	2	523	c.404delG	c.(403-405)gtfs	p.G135fs	KLHL28_ENST00000355081.2_Frame_Shift_Del_p.G149fs	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	135										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AATACAATTACCAGGATCAAG	0.408													9	62	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81183625	81183628	+	RNA	DEL	TTTT	TTTT	-	rs11296516		TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr16:81183625_81183628delTTTT	ENST00000533478.1	-	0	2609				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGTTCACACtttttttttttttt	0.466													2	4	---	---	---	---					
HOXB8	3218	broad.mit.edu	37	17	46690610	46690611	+	Frame_Shift_Ins	INS	-	-	A			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr17:46690610_46690611insA	ENST00000239144.4	-	2	919_920	c.685_686insT	c.(685-687)agafs	p.R229fs	HOXB7_ENST00000567101.1_Intron|HOXB8_ENST00000576562.1_Frame_Shift_Ins_p.R228fs	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	229						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						CGCCGCCTCTGGGGCCCGCTCC	0.644													23	120	---	---	---	---					
KCTD1	284252	broad.mit.edu	37	18	24128325	24128327	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr18:24128325_24128327delTCC	ENST00000417602.1	-	1	173_175	c.174_176delGGA	c.(172-177)gaa>ga	p.EE62del	KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000317932.7_Intron	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ctcctcctcttcctcctcctcct	0.724													4	3	---	---	---	---					
LDLR	3949	broad.mit.edu	37	19	11242055	11242077	+	Frame_Shift_Del	DEL	ATTCAAAGACAGAGAAGACCAAA	ATTCAAAGACAGAGAAGACCAAA	-			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr19:11242055_11242077delATTCAAAGACAGAGAAGACCAAA	ENST00000557933.1	+	18	2795_2817	c.2708_2730delATTCAAAGACAGAGAAGACCAAA	c.(2707-2730)tfs	p.YSKTEKTK903fs	LDLR_ENST00000545707.1_3'UTR|LDLR_ENST00000455727.2_3'UTR|LDLR_ENST00000558518.1_3'UTR|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000535915.1_3'UTR|LDLR_ENST00000558013.1_3'UTR			P01130	LDLR_HUMAN	low density lipoprotein receptor	0					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTG	0.511											OREG0025249	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	48	---	---	---	---					
CTC-559E9.6	0	broad.mit.edu	37	19	19944580	19944580	+	RNA	DEL	T	T	-			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr19:19944580delT	ENST00000591884.1	+	0	520																											ATGTTTAATCttttttttttt	0.378													2	4	---	---	---	---					
SIK1	150094	broad.mit.edu	37	21	44841183	44841184	+	Frame_Shift_Ins	INS	-	-	G			TCGA-49-4506-01A-01D-1265-08	TCGA-49-4506-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d707f8ad-5ea5-493a-a745-9b5dba64f213	b8fa1b54-140b-4a50-bc72-604fe25b0f32	g.chr21:44841183_44841184insG	ENST00000270162.6	-	6	695_696	c.563_564insC	c.(562-564)ctafs	p.L188fs		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	188	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GGGCGGCATACGGGGGGCTCCC	0.589													16	92	---	---	---	---					
